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
CRAMP1L	57585	broad.mit.edu	37	16	1720768	1720768	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:1720768G>C	ENST00000397412.3	+	20	3702	c.3603G>C	c.(3601-3603)tcG>tcC	p.S1201S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.S1201S|CRAMP1L_ENST00000436138.3_Silent_p.S1198S|CRAMP1L_ENST00000262317.4_Silent_p.S576S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1201	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATGGAAACTCGCGGGACTCAT	0.582000													12	65					0	0	0.001368	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994940	51994940	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:51994940C>A	ENST00000291707.3	-	8	1798	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q463H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	581					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATGGCCTCCTGTTCCTGTG	0.582000													24	100					3.08376e-08	6.60914e-08	0.003330	1	0
NACAP1	83955	broad.mit.edu	37	8	102381147	102381147	+	RNA	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:102381147G>A	ENST00000419462.1	+	0	559					NR_002182.1																						AATGCCTGGCGAAGCCACAGA	0.567000													12	24					0	0	0.001368	0	0
AHDC1	27245	broad.mit.edu	37	1	27878118	27878118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:27878118G>A	ENST00000374011.2	-	6	1477	c.509C>T	c.(508-510)tCa>tTa	p.S170L	AHDC1_ENST00000247087.5_Missense_Mutation_p.S170L|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	170	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAAACTGGGTGAGGAGAAGAA	0.662000													6	127					0	0	0.001168	0	0
CHRM2	1129	broad.mit.edu	37	7	136699801	136699801	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:136699801C>G	ENST00000445907.2	+	3	717	c.189C>G	c.(187-189)ttC>ttG	p.F63L	AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.F63L|CHRM2_ENST00000397608.3_Missense_Mutation_p.F63L|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F63L|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.F63L|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.F63L|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTTTTTATTCAGCTTGGCCT	0.468000													12	122					0	0	0.000978	0	0
PTPRC	5788	broad.mit.edu	37	1	198682089	198682089	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:198682089A>G	ENST00000367376.2	+	12	1344	c.1173A>G	c.(1171-1173)ggA>ggG	p.G391G	PTPRC_ENST00000442510.2_Silent_p.G393G|PTPRC_ENST00000352140.3_Silent_p.G343G|PTPRC_ENST00000594404.1_Silent_p.G230G|PTPRC_ENST00000348564.6_Silent_p.G232G	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	391	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGGTCCAGGAGAGCCTCAGA	0.318000													26	59					0	0	0.005443	0	0
BTK	695	broad.mit.edu	37	X	100608907	100608907	+	Missense_Mutation	SNP	T	T	A	rs146681416	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:100608907T>A	ENST00000308731.7	-	17	1864	c.1701A>T	c.(1699-1701)gaA>gaT	p.E567D	BTK_ENST00000372880.1_Missense_Mutation_p.E391D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	567	Protein kinase.		E -> K (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATCAGGACTTCCGGTGGGG	0.443000									Agammaglobulinemia, X-linked				6	93					0	0	0.001168	0	0
INHBC	3626	broad.mit.edu	37	12	57843393	57843393	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57843393C>T	ENST00000309668.2	+	2	774	c.647C>T	c.(646-648)gCc>gTc	p.A216V	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	216					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGTGGAGCTGCCCATAGGCCT	0.622000													13	47					0	0	0.001368	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766844	27766844	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:27766844C>G	ENST00000451261.2	+	5	2231	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TCGGATGAGTCTTCCAGCACT	0.527000													6	16					0	0	0.001168	0	0
CCDC6	8030	broad.mit.edu	37	10	61592413	61592413	+	Splice_Site	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:61592413T>A	ENST00000263102.6	-	3	685		c.e3-2			NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6							cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		ATGCTGCAACTGGAAAATGAA	0.398000			T	RET	NSCLC								6	28					0	0	0.001984	0	0
ESRP1	54845	broad.mit.edu	37	8	95680467	95680467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:95680467G>A	ENST00000433389.2	+	10	1412	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	ESRP1_ENST00000454170.2_Missense_Mutation_p.E408K|ESRP1_ENST00000423620.2_Missense_Mutation_p.E408K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E408K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	408					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CACAGCAGCTGAAGTTCAGCA	0.373000													8	55					0	0	0.004482	0	0
ZBTB21	49854	broad.mit.edu	37	21	43414197	43414197	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:43414197C>G	ENST00000310826.5	-	3	191	c.8G>C	c.(7-9)gGa>gCa	p.G3A	ZBTB21_ENST00000398499.1_Missense_Mutation_p.G3A|ZBTB21_ENST00000398511.3_Missense_Mutation_p.G3A|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.G3A	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		ATGCAGTAATCCCTCCATGGC	0.448000													10	84					0	0	0.000673	0	0
OXR1	55074	broad.mit.edu	37	8	107715290	107715290	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:107715290G>A	ENST00000445937.1	+	8	1093	c.832G>A	c.(832-834)Gat>Aat	p.D278N	OXR1_ENST00000531443.1_Missense_Mutation_p.D278N|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.D279N|OXR1_ENST00000517566.2_Missense_Mutation_p.D278N|OXR1_ENST00000312046.6_Missense_Mutation_p.D271N|OXR1_ENST00000497705.1_Missense_Mutation_p.D211N	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	279					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAAATTTTGGATAGCAAAAT	0.353000													17	27					0	0	0.000743	0	0
NMI	9111	broad.mit.edu	37	2	152138558	152138558	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:152138558C>T	ENST00000243346.5	-	3	552		c.e3-1			NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor						inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CAATTAGTCCCTTAAAAATAT	0.333000													5	16					0	0	0.000602	0	0
LAMC3	10319	broad.mit.edu	37	9	133945219	133945219	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:133945219C>T	ENST00000361069.4	+	17	3184	c.3051C>T	c.(3049-3051)taC>taT	p.Y1017Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1017	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGTCCTGCTACGCCCTGGTGA	0.587000													3	5					0	0	0.000248	0	0
CHST11	50515	broad.mit.edu	37	12	105151344	105151344	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:105151344C>G	ENST00000303694.5	+	3	1261	c.822C>G	c.(820-822)gaC>gaG	p.D274E	CHST11_ENST00000549260.1_Missense_Mutation_p.D269E	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	274					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCCACTATGACCTCGTGGGCA	0.547000													3	29					0	0	0.000602	0	0
OR6N2	81442	broad.mit.edu	37	1	158746962	158746962	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158746962C>A	ENST00000339258.1	-	1	463	c.464G>T	c.(463-465)tGt>tTt	p.C155F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGAAATGGGACACAGGAAGCC	0.498000													18	69					8.34094e-07	1.73662e-06	0.001216	1	0
TMEM2	23670	broad.mit.edu	37	9	74360399	74360399	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:74360399C>A	ENST00000377044.4	-	4	1108	c.569G>T	c.(568-570)gGa>gTa	p.G190V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G190V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	190	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTTTTCTGCTCCAATATGAAG	0.413000													34	62					1.26612e-14	3.01219e-14	0.003271	1	0
SPOP	8405	broad.mit.edu	37	17	47699430	47699430	+	Splice_Site	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:47699430C>G	ENST00000393331.3	-	5	549		c.e5-1		SPOP_ENST00000503676.1_Splice_Site|SPOP_ENST00000513080.1_Splice_Site|SPOP_ENST00000504102.1_Splice_Site|SPOP_ENST00000393328.2_Splice_Site|SPOP_ENST00000347630.2_Splice_Site	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein						mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTACCTTGATCTGTTGATAGA	0.398000										Prostate(2;0.17)			13	19					0	0	0.003163	0	0
DSCAM	1826	broad.mit.edu	37	21	41719757	41719757	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:41719757A>G	ENST00000400454.1	-	6	1527	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	350	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATTTCACCATTGCGGTACC	0.507000													33	105					0	0	0.003271	0	0
HYDIN	54768	broad.mit.edu	37	16	71015349	71015349	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:71015349C>G	ENST00000393567.2	-	29	4605	c.4455G>C	c.(4453-4455)ctG>ctC	p.L1485L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1485								p.L1436L(1)|p.L1484L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCGCTCAGAGTGATAT	0.483000													10	63					0	0	0.001216	0	0
C16orf70	80262	broad.mit.edu	37	16	67173918	67173918	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:67173918G>A	ENST00000219139.3	+	9	881	c.693G>A	c.(691-693)aaG>aaA	p.K231K	C16orf70_ENST00000569600.1_Silent_p.K231K	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	231										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAGATGCCAAGATGCGGGTAT	0.473000													10	198					0	0	0.000978	0	0
FMN2	56776	broad.mit.edu	37	1	240492684	240492684	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:240492684C>G	ENST00000319653.9	+	10	4583	c.4353C>G	c.(4351-4353)gtC>gtG	p.V1451V	FMN2_ENST00000545751.1_Silent_p.V47V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1451	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCGAGTCTTTTGCATCC	0.373000													9	118					0	0	0.000978	0	0
KCTD8	386617	broad.mit.edu	37	4	44177183	44177183	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:44177183C>A	ENST00000360029.3	-	2	1329	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACAGGAAGTCCCACTTTCACT	0.463000										HNSCC(17;0.042)			13	30					4.3838e-07	9.226e-07	0.001855	1	0
OR5T2	219464	broad.mit.edu	37	11	56000129	56000129	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56000129C>A	ENST00000313264.4	-	1	608	c.533G>T	c.(532-534)aGa>aTa	p.R178I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CATGTAGACTCTGGGTGACAT	0.443000													25	103					3.08376e-08	6.60914e-08	0.003330	1	0
ZNF394	84124	broad.mit.edu	37	7	99092065	99092065	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:99092065G>A	ENST00000337673.6	-	3	976	c.773C>T	c.(772-774)tCt>tTt	p.S258F	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCTTCAGGAGAATTTTCAAG	0.483000													9	146					0	0	0.000443	0	0
STXBP2	6813	broad.mit.edu	37	19	7705802	7705802	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7705802G>C	ENST00000441779.2	+	6	412	c.375G>C	c.(373-375)ctG>ctC	p.L125L	STXBP2_ENST00000221283.5_Silent_p.L114L|STXBP2_ENST00000414284.2_Silent_p.L111L|CTD-3214H19.4_ENST00000595866.1_3'UTR	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	114					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCGAGCCCCTGTTCAGTGAGC	0.657000													6	81					0	0	0.000673	0	0
KBTBD2	25948	broad.mit.edu	37	7	32908969	32908969	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:32908969T>C	ENST00000304056.4	-	4	2559	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	620										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATACAGGTGGTAGTGCAACCA	0.423000													8	58					0	0	0.003080	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177778	146177778	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:146177778G>C	ENST00000497985.1	-	4	572	c.133C>G	c.(133-135)Cgt>Ggt	p.R45G	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TCATGCTGACGTCCTGGGTAG	0.567000													5	23					0	0	0.000602	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862412	43862412	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:43862412A>G	ENST00000389420.3	-	8	1213	c.1214T>C	c.(1213-1215)cTt>cCt	p.L405P	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L405P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	405	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGTGTGCCCAAGCTCATGGGC	0.363000													15	38					0	0	0.004007	0	0
SPATA18	132671	broad.mit.edu	37	4	52938153	52938153	+	Silent	SNP	C	C	A	rs146272260	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:52938153C>A	ENST00000295213.4	+	6	963	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	SPATA18_ENST00000419395.2_Silent_p.R165R|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	197					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGAGAATAGGCGGTCAGAGCC	0.527000													7	38					8.12818e-05	0.000160275	0.001984	1	0
SLX4	84464	broad.mit.edu	37	16	3633428	3633428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3633428G>A	ENST00000294008.3	-	14	5463	c.4823C>T	c.(4822-4824)tCa>tTa	p.S1608L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1608	Interaction with MUS81.|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						CTCGGAGTCTGAGTCCAGGGT	0.597000								Direct reversal of damage					8	122					0	0	0.000443	0	0
PRKDC	5591	broad.mit.edu	37	8	48697804	48697804	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:48697804G>A	ENST00000314191.2	-	78	11030	c.10974C>T	c.(10972-10974)ttC>ttT	p.F3658F	PRKDC_ENST00000338368.3_Silent_p.F3658F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3659					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAATGTCGTTGAAGTCACTGA	0.363000								Non-homologous end-joining					6	32					0	0	0.001984	0	0
ACO1	48	broad.mit.edu	37	9	32418476	32418476	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:32418476A>G	ENST00000379923.1	+	7	831	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	ACO1_ENST00000309951.5_Missense_Mutation_p.T209A|ACO1_ENST00000541043.1_Missense_Mutation_p.T110A	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	209					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CTCGCACACTACCATGATTGA	0.433000													42	140					0	0	0.003610	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490580	20490580	+	RNA	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:20490580T>A	ENST00000555186.1	+	0	560					NR_038836.1																						TAAGACACTGTGGCTTCAGGT	0.463000													14	321					0	0	0.002450	0	0
CCDC67	159989	broad.mit.edu	37	11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	46										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388000													16	48					0	0	0.003163	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453682	143453682	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:143453682T>A	ENST00000470691.2	-	1	1107	c.1070A>T	c.(1069-1071)aAa>aTa	p.K357I		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					CTGAAGATTTTTAATATGCTC	0.294000													9	45					0	0	0.000443	0	0
ZNF311	282890	broad.mit.edu	37	6	28971724	28971724	+	Splice_Site	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:28971724T>G	ENST00000377179.3	-	2	520	c.9_splice	c.e2+1	p.E3_splice	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCTTCTTACCTCCTGCATCTT	0.463000													18	110					0	0	0.001523	0	0
PAF1	54623	broad.mit.edu	37	19	39879272	39879272	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:39879272A>T	ENST00000221265.3	-	10	1115	c.785T>A	c.(784-786)cTg>cAg	p.L262Q	PAF1_ENST00000595564.1_Missense_Mutation_p.L252Q|PAF1_ENST00000221266.7_Missense_Mutation_p.L229Q	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	262					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCTACAGGCAGGAAATAGGC	0.527000													20	73					0	0	0.001523	0	0
IKBIP	121457	broad.mit.edu	37	12	99007959	99007959	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:99007959C>G	ENST00000342502.2	-	3	868	c.457G>C	c.(457-459)Gac>Cac	p.D153H	IKBIP_ENST00000420861.1_Missense_Mutation_p.D47H|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	153					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTTGTAATGTCTTGAGAAAGC	0.363000													18	55					0	0	0.000743	0	0
INTS5	80789	broad.mit.edu	37	11	62415040	62415040	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:62415040G>C	ENST00000330574.2	-	2	2564	c.2512C>G	c.(2512-2514)Cgg>Ggg	p.R838G		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	838					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACGGTGGCCCGGGCGTGTTCC	0.657000													3	103					0	0	0.004672	0	0
AKAP14	158798	broad.mit.edu	37	X	119054534	119054534	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:119054534C>T	ENST00000371431.3	+	7	832	c.558C>T	c.(556-558)ttC>ttT	p.F186F	AKAP14_ENST00000371423.2_Silent_p.F127F|AKAP14_ENST00000334356.2_Silent_p.F126F|AKAP14_ENST00000371425.4_Silent_p.F126F|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	186						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AATATAGTTTCATGGAGTCAT	0.353000													9	53					0	0	0.000978	0	0
RGS1	5996	broad.mit.edu	37	1	192548282	192548282	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:192548282C>G	ENST00000367459.3	+	5	526	c.460C>G	c.(460-462)Cgc>Ggc	p.R154G		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	154	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TATTGACTTCCGCACTCGAGA	0.333000													13	71					0	0	0.002450	0	0
DMD	1756	broad.mit.edu	37	X	31792249	31792249	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:31792249G>T	ENST00000357033.4	-	51	7576	c.7370C>A	c.(7369-7371)tCc>tAc	p.S2457Y	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.S2453Y|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2457					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTAGTTTGGAGATGGCAGT	0.433000													17	55					2.4624e-09	5.42347e-09	0.001216	1	0
GKAP1	80318	broad.mit.edu	37	9	86414160	86414160	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:86414160G>C	ENST00000376371.2	-	4	700	c.300C>G	c.(298-300)aaC>aaG	p.N100K	GKAP1_ENST00000376365.3_Missense_Mutation_p.N100K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	100					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TCTGTACTGGGTTTGACAATG	0.363000													35	134					0	0	0.003755	0	0
BMP4	652	broad.mit.edu	37	14	54417231	54417231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:54417231C>G	ENST00000245451.4	-	4	1139	c.746G>C	c.(745-747)gGc>gCc	p.G249A	BMP4_ENST00000559087.1_Missense_Mutation_p.G249A|BMP4_ENST00000558984.1_Missense_Mutation_p.G249A|BMP4_ENST00000417573.1_Missense_Mutation_p.G249A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	249					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GACATGCTGGCCCTGGTGGGT	0.617000													23	67					0	0	0.003954	0	0
MC2R	4158	broad.mit.edu	37	18	13884801	13884801	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:13884801G>T	ENST00000327606.3	-	2	897	c.717C>A	c.(715-717)gtC>gtA	p.V239V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	239					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCATCAAGAGGACATGAAGCA	0.542000													7	49					8.12818e-05	0.000160275	0.001984	1	0
ACSL4	2182	broad.mit.edu	37	X	108921236	108921236	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:108921236G>A	ENST00000340800.2	-	9	1538	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	ACSL4_ENST00000469796.2_Missense_Mutation_p.P345L|ACSL4_ENST00000348502.6_Missense_Mutation_p.P304L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GAGTGTAAGCGGAGAAGAATA	0.428000													6	67					0	0	0.001168	0	0
CD1D	912	broad.mit.edu	37	1	158153926	158153926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158153926C>T	ENST00000368171.3	+	7	1493	c.994C>T	c.(994-996)Cag>Tag	p.Q332*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	332					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGTTCCTATCAGGGCGTCCT	0.512000													8	136					0	0	0.003080	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746095	77746095	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:77746095C>A	ENST00000409088.3	-	3	1314	c.900G>T	c.(898-900)tgG>tgT	p.W300C	LRRTM4_ENST00000409282.1_Missense_Mutation_p.W301C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.W300C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.W301C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.W300C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	300						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTAATGATATCCACGCATTGA	0.373000													4	18					2.56e-06	5.2674e-06	0.000248	1	0
FAM65B	9750	broad.mit.edu	37	6	24873906	24873906	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:24873906C>G	ENST00000259698.4	-	3	398	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	FAM65B_ENST00000510784.2_Missense_Mutation_p.E109Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E75Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E75Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E104Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	75	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TAGACTTCTTCCACCCTTTTA	0.448000													15	72					0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85781681	85781681	+	Missense_Mutation	SNP	C	C	G	rs138518540	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:85781681C>G	ENST00000322366.6	-	4	471	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P	WDFY3_ENST00000295888.4_Missense_Mutation_p.A22P			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	22						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCCTAAGGCGTTGTCTTGT	0.542000													12	55					0	0	0.001368	0	0
ATRNL1	26033	broad.mit.edu	37	10	116853721	116853721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:116853721C>A	ENST00000355044.3	+	1	338	c.212C>A	c.(211-213)tCg>tAg	p.S71*	ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.S71*|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	71	EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCTGCTTCTCGGGCCGCTGT	0.662000													7	20					0.00198382	0.00375531	0.001984	1	0
C4BPB	725	broad.mit.edu	37	1	207265065	207265065	+	Missense_Mutation	SNP	C	C	G	rs139041322		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207265065C>G	ENST00000243611.5	+	3	603	c.309C>G	c.(307-309)atC>atG	p.I103M	C4BPB_ENST00000451804.2_Missense_Mutation_p.I93M|C4BPB_ENST00000391923.1_Missense_Mutation_p.I103M|C4BPB_ENST00000367078.3_Missense_Mutation_p.I103M|C4BPB_ENST00000367076.3_Missense_Mutation_p.I102M	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	103	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GTGACAAAATCACGTTTATGT	0.483000													6	101					0	0	0.001984	0	0
SMG8	55181	broad.mit.edu	37	17	57288086	57288086	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:57288086G>C	ENST00000543872.2	+	2	938	c.674G>C	c.(673-675)cGa>cCa	p.R225P	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.R225P|SMG8_ENST00000578922.1_Missense_Mutation_p.R225P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	225					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACTTATGATCGAGTATTCAGA	0.473000													31	37					0	0	0.001271	0	0
DPP4	1803	broad.mit.edu	37	2	162891810	162891810	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:162891810G>C	ENST00000360534.3	-	9	1198	c.638C>G	c.(637-639)gCt>gGt	p.A213G		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	213					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CCACCACAGAGCAGAGTAGGC	0.398000													9	42					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9003692	9003692	+	Splice_Site	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9003692T>A	ENST00000397910.4	-	49	40153		c.e49-2			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						GGCCAGTGGCTGTAGTAAAAG	0.418000													34	140					0	0	0.003271	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587077	15587077	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:15587077C>T	ENST00000292609.4	-	2	533	c.404G>A	c.(403-405)cGc>cAc	p.R135H	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.R135H			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	135					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TATGACCCTGCGCCCTTGCAG	0.597000													13	67					0	0	0.001368	0	0
SVEP1	79987	broad.mit.edu	37	9	113208279	113208279	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:113208279C>G	ENST00000401783.2	-	26	4637	c.4301G>C	c.(4300-4302)gGc>gCc	p.G1434A	SVEP1_ENST00000302728.8_Missense_Mutation_p.G1434A|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1411A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1434	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCATAGATGCCAGAAACTTC	0.423000													4	28					0	0	0.000602	0	0
ACP1	52	broad.mit.edu	37	2	271881	271881	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:271881C>T	ENST00000272067.6	+	2	155	c.59C>T	c.(58-60)tCa>tTa	p.S20L	ACP1_ENST00000407983.3_Missense_Mutation_p.S20L|ACP1_ENST00000439645.2_Missense_Mutation_p.S20L|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000405233.1_Missense_Mutation_p.S20L|ACP1_ENST00000272065.5_Missense_Mutation_p.S20L	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	20				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).		cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		ATTTGTCGATCACCCATTGCA	0.448000													7	80					0	0	0.003080	0	0
POLQ	10721	broad.mit.edu	37	3	121217352	121217352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:121217352G>A	ENST00000264233.5	-	13	2253	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	709					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)		TGTCGATGCTGTCTCTCAGTT	0.473000								DNA polymerases (catalytic subunits)					7	131					0	0	0.001984	0	0
EPS8L2	64787	broad.mit.edu	37	11	722485	722485	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:722485G>A	ENST00000533256.1	+	14	1519	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	EPS8L2_ENST00000318562.8_Missense_Mutation_p.G382S|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.G382S|EPS8L2_ENST00000526198.1_Missense_Mutation_p.G398S			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	382						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCCTGCGCGGCCACCTGGT	0.662000													9	31					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76854951	76854951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:76854951G>A	ENST00000373344.5	-	25	6099	c.5885C>T	c.(5884-5886)tCt>tTt	p.S1962F	ATRX_ENST00000395603.3_Missense_Mutation_p.S1924F|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1962					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCTCCCCGAGATCTTGAATT	0.383000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						39	425					0	0	0.001706	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470691	67470691	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:67470691C>T	ENST00000326152.5	+	5	1135	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	335					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	AGCTCGGCCCCGCCGCCGCTA	0.637000													17	140					0	0	0.001523	0	0
PCDH9	5101	broad.mit.edu	37	13	67801710	67801710	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:67801710C>T	ENST00000544246.1	-	2	1554	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	PCDH9_ENST00000377861.3_Missense_Mutation_p.R288Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.R288Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.R288Q|PCDH9_ENST00000377865.2_Missense_Mutation_p.R288Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	288	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R288L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAAATGTACCGGATTTCAGC	0.463000													17	95					0	0	0.000958	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802642	31802642	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:31802642G>T	ENST00000334068.2	+	1	71	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	17						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCCTTTGGGGGCTACCTGTA	0.552000													26	72					4.59853e-10	1.02574e-09	0.005443	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260092	90260092	+	RNA	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:90260092C>A	ENST00000471857.1	+	0	376																											CAGGGAAAGCCCCTGAGCTCC	0.493000													31	162					3.90053e-15	9.33036e-15	0.002445	1	0
DUOXA1	90527	broad.mit.edu	37	15	45409770	45409770	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:45409770G>C	ENST00000267803.4	-	11	1794	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	DUOXA2_ENST00000323030.5_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.F465L|DUOXA1_ENST00000430224.2_Missense_Mutation_p.F420L	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		AAAGATGGAAGAAGGCCCGGG	0.562000													4	7					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9068263	9068263	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9068263T>A	ENST00000397910.4	-	3	19386	c.19183A>T	c.(19183-19185)Act>Tct	p.T6395S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6397	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						ACCTCAGTAGTAGCAGCAGTG	0.488000													11	67					0	0	0.000978	0	0
POLA1	5422	broad.mit.edu	37	X	24742495	24742495	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:24742495C>T	ENST00000379068.3	+	12	1287	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	POLA1_ENST00000379059.3_Missense_Mutation_p.S409L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	409					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACTCCAATTTCAATGAAGGAT	0.328000													7	69					0	0	0.001984	0	0
ZNF683	257101	broad.mit.edu	37	1	26691026	26691026	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:26691026G>C	ENST00000436292.1	-	4	1131	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	ZNF683_ENST00000349618.3_Silent_p.L337L|ZNF683_ENST00000374204.1_Silent_p.L337L|ZNF683_ENST00000403843.1_Silent_p.L337L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGATACCTTGAGATTGGAGA	0.537000													34	131					0	0	0.004289	0	0
AADACL4	343066	broad.mit.edu	37	1	12726424	12726424	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:12726424C>T	ENST00000376221.1	+	4	902	c.902C>T	c.(901-903)cCc>cTc	p.P301L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	301						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCTACCAACCCTGGTCTCCC	0.493000													28	92					0	0	0.005443	0	0
MYOCD	93649	broad.mit.edu	37	17	12666489	12666489	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:12666489C>T	ENST00000425538.1	+	14	2689	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.S782L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	782					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAAGCCCTCGGCTTCCTTT	0.498000													5	89					0	0	0.001984	0	0
UBE2S	27338	broad.mit.edu	37	19	55915773	55915773	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:55915773G>A	ENST00000264552.9	-	3	412	c.225C>T	c.(223-225)ccC>ccT	p.P75P	UBE2S_ENST00000589978.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	75					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		AGTAGCCCTTGGGTGGGGAGG	0.617000													5	20					0	0	0.000602	0	0
FAM135B	51059	broad.mit.edu	37	8	139263149	139263149	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139263149G>T	ENST00000395297.1	-	6	647	c.477C>A	c.(475-477)ttC>ttA	p.F159L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	159										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACAGGTGGAAATAGTCGA	0.592000										HNSCC(54;0.14)			24	138					2.52088e-20	6.16488e-20	0.002780	1	0
NLRP3	114548	broad.mit.edu	37	1	247588696	247588696	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:247588696C>A	ENST00000366497.2	+	4	2731	c.1951C>A	c.(1951-1953)Ccc>Acc	p.P651T	NLRP3_ENST00000366496.2_Missense_Mutation_p.P651T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P651T|NLRP3_ENST00000336119.3_Missense_Mutation_p.P651T|NLRP3_ENST00000348069.2_Missense_Mutation_p.P651T|NLRP3_ENST00000391827.2_Missense_Mutation_p.P651T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	651					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACTATTTCCCCAAGATTGA	0.493000													9	47					3.07112e-06	6.30425e-06	0.000978	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740292	37740292	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:37740292G>T	ENST00000539465.1	+	15	2360	c.1767G>T	c.(1765-1767)gcG>gcT	p.A589A	FRMPD1_ENST00000536622.1_Silent_p.A411A|FRMPD1_ENST00000377765.3_Silent_p.A589A|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.A458A			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	589						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTCCGAGGCGTCCGACTCAG	0.647000													8	37					0.000157383	0.000307222	0.003080	1	0
LRIT1	26103	broad.mit.edu	37	10	85991723	85991723	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:85991723C>G	ENST00000372105.3	-	4	1853	c.1832G>C	c.(1831-1833)gGa>gCa	p.G611A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	611						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCCTTTGACTCCAAAGGCCTG	0.577000													5	23					0	0	0.000602	0	0
CCDC120	90060	broad.mit.edu	37	X	48921431	48921431	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48921431C>A	ENST00000376396.3	+	5	442	c.223C>A	c.(223-225)Cct>Act	p.P75T	CCDC120_ENST00000603986.1_Missense_Mutation_p.P110T|CCDC120_ENST00000597275.1_Missense_Mutation_p.P75T|CCDC120_ENST00000536628.2_Missense_Mutation_p.P63T|CCDC120_ENST00000496529.2_Missense_Mutation_p.P75T|CCDC120_ENST00000422185.2_Missense_Mutation_p.P75T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	75							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACTAGAGCCTGGTGAACG	0.657000													6	24					0.000157383	0.000307222	0.003080	1	0
TECPR1	25851	broad.mit.edu	37	7	97851742	97851742	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:97851742C>G	ENST00000447648.2	-	22	3319	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.G1009A			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1007						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGCGGAGCCGTCCCTTGC	0.677000													3	9					0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152284282	152284282	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152284282G>C	ENST00000368799.1	-	3	3115	c.3080C>G	c.(3079-3081)tCa>tGa	p.S1027*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1027	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGACTTGATCTTGCCTG	0.572000									Ichthyosis				202	432					0	0	0.003610	0	0
CYB5B	80777	broad.mit.edu	37	16	69458737	69458737	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:69458737G>A	ENST00000512062.1	+	1	310	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CYB5B_ENST00000307892.8_Missense_Mutation_p.D51N|CYB5B_ENST00000561792.1_Missense_Mutation_p.D47N|CYB5B_ENST00000515314.1_Missense_Mutation_p.D47N			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	47	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCGAGTCTACGATGTCACCCG	0.587000													5	40					0	0	0.000602	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19854368	19854368	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:19854368G>T	ENST00000397821.3	-	2	327	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.Q13K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	13	SH3 1.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCATCGTGCTGGGCCTGGTAG	0.532000													44	110					1.32136e-16	3.18691e-16	0.001951	1	0
GATAD1	57798	broad.mit.edu	37	7	92085756	92085756	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:92085756C>G	ENST00000287957.3	+	5	967	c.690C>G	c.(688-690)ttC>ttG	p.F230L		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	230							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAGTATTTCAAGTCACGGT	0.453000													9	150					0	0	0.000443	0	0
CUX1	1523	broad.mit.edu	37	7	101843412	101843412	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:101843412C>G	ENST00000360264.3	+	17	2075	c.2055C>G	c.(2053-2055)atC>atG	p.I685M	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.I572M|CUX1_ENST00000292535.7_Missense_Mutation_p.I674M|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.I652M|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	674					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTCCATCCTAGAGCAAG	0.483000													8	90					0	0	0.004482	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504074	123504074	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:123504074A>T	ENST00000371139.4	+	3	549	c.250A>T	c.(250-252)Att>Ttt	p.I84F	SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.I84F	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	84	SH2.		I -> T (in XLP1; reduced protein stability).		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAAAATCTCATTTCAGCATT	0.368000													15	107					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	18					0	0	0.001855	0	0
WIPF1	7456	broad.mit.edu	37	2	175436931	175436931	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:175436931C>A	ENST00000392547.2	-	5	701	c.602G>T	c.(601-603)cGg>cTg	p.R201L	WIPF1_ENST00000272746.5_Missense_Mutation_p.R201L|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.R201L|WIPF1_ENST00000409415.3_Missense_Mutation_p.R201L|WIPF1_ENST00000359761.3_Missense_Mutation_p.R201L|WIPF1_ENST00000392546.2_Missense_Mutation_p.R201L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGGGACCCCCGGTTGTGCGG	0.652000													18	70					1.28384e-07	2.71498e-07	0.001882	1	0
PPEF1	5475	broad.mit.edu	37	X	18842187	18842187	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18842187G>A	ENST00000361511.4	+	17	2142	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K|PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K|PPEF1_ENST00000543630.1_3'UTR	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	550					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATCCGCATTGAAAAACCTGT	0.463000													9	56					0	0	0.004482	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593540	125593540	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:125593540T>C	ENST00000504087.1	-	4	1929	c.892A>G	c.(892-894)Aaa>Gaa	p.K298E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K119E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	298										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCACTGCTTTTAATGTGCAGT	0.363000													8	28					0	0	0.000443	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500686	102500686	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:102500686G>C	ENST00000360184.4	+	56	10815	c.10651G>C	c.(10651-10653)Gaa>Caa	p.E3551Q	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3551					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCAGGACGGAATACCTTTC	0.502000													6	68					0	0	0.001168	0	0
COL14A1	7373	broad.mit.edu	37	8	121295907	121295907	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:121295907A>G	ENST00000297848.3	+	32	4127	c.3857A>G	c.(3856-3858)tAc>tGc	p.Y1286C	COL14A1_ENST00000247781.3_Missense_Mutation_p.Y1191C|COL14A1_ENST00000309791.4_Missense_Mutation_p.Y1286C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1286	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCTCCGACTACACAATCAGT	0.393000													41	93					0	0	0.003610	0	0
SIAH2	6478	broad.mit.edu	37	3	150460112	150460112	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:150460112C>G	ENST00000312960.3	-	2	1318	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	264	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAACTCCAGTCTGTAGGCAAA	0.567000													4	66					0	0	0.000248	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752193	140752193	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140752193C>A	ENST00000576222.1	+	1	2363	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTACAGCGAAAGGACTT	0.512000													7	59					0.00307968	0.00578596	0.003080	1	0
MIR890	100126303	broad.mit.edu	37	X	145075797	145075797	+	RNA	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:145075797A>T	ENST00000401256.1	-	0	72					NR_030589.1																						ACTTGGTAAGACTTACTCTAC	0.478000													12	91					0	0	0.000978	0	0
CREBZF	58487	broad.mit.edu	37	11	85375815	85375815	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:85375815C>G	ENST00000527447.1	-	1	331	c.105G>C	c.(103-105)ctG>ctC	p.L35L	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	35					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CAGCCCGGGTCAGGTCAGAGG	0.692000													4	38					0	0	0.000602	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397176	5397176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:5397176C>A	ENST00000341928.2	-	18	3062	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E213*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E205*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E686*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E739*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E908*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E686*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	908	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTAGCGACCTCCTCCCCTCCT	0.577000													24	124					6.44725e-10	1.43628e-09	0.002299	1	0
OR10Q1	219960	broad.mit.edu	37	11	57996165	57996165	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57996165G>C	ENST00000316770.2	-	1	225	c.183C>G	c.(181-183)acC>acG	p.T61T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AATACATCGGGGTGCGGAGGG	0.527000													9	73					0	0	0.000673	0	0
CKAP5	9793	broad.mit.edu	37	11	46772905	46772905	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:46772905T>C	ENST00000529230.1	-	39	5359	c.5313A>G	c.(5311-5313)aaA>aaG	p.K1771K	CKAP5_ENST00000312055.5_Silent_p.K1711K|CKAP5_ENST00000415402.1_Silent_p.K1771K|CKAP5_ENST00000354558.3_Silent_p.K1711K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1771					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.K1771K(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTGGGCCCTTTTAATTTGC	0.443000													3	120					0	0	0.004672	0	0
MED12L	116931	broad.mit.edu	37	3	151073819	151073819	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:151073819G>A	ENST00000474524.1	+	17	2586	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T	MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A710T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	850					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTGACTTCGCAATACAGGT	0.448000													19	56					0	0	0.001216	0	0
PCNX	22990	broad.mit.edu	37	14	71495434	71495434	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:71495434G>C	ENST00000304743.2	+	16	3930	c.3484G>C	c.(3484-3486)Gca>Cca	p.A1162P	PCNX_ENST00000439984.3_Missense_Mutation_p.A1051P|PCNX_ENST00000238570.5_Missense_Mutation_p.A1162P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1162						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGCCTGCTTGCAGCACTTTA	0.308000													44	46					0	0	0.003610	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899231	112899231	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:112899231A>G	ENST00000374530.3	+	8	1587	c.1407A>G	c.(1405-1407)gcA>gcG	p.A469A	AKAP2_ENST00000555236.1_Silent_p.A469A|AKAP2_ENST00000374525.1_Silent_p.A327A|PALM2-AKAP2_ENST00000302798.7_Silent_p.A469A|AKAP2_ENST00000434623.2_Silent_p.A327A|AKAP2_ENST00000510514.5_Silent_p.A469A|AKAP2_ENST00000259318.7_Silent_p.A238A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		238							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGGCATTGCAGCAAAATGGT	0.522000													12	39					0	0	0.001368	0	0
C4BPB	725	broad.mit.edu	37	1	207265029	207265029	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207265029C>G	ENST00000243611.5	+	3	567	c.273C>G	c.(271-273)ttC>ttG	p.F91L	C4BPB_ENST00000451804.2_Missense_Mutation_p.F81L|C4BPB_ENST00000391923.1_Missense_Mutation_p.F91L|C4BPB_ENST00000367078.3_Missense_Mutation_p.F91L|C4BPB_ENST00000367076.3_Missense_Mutation_p.F90L	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	91	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						ATGGAGAGTTCAGTTCTTCAG	0.483000													7	123					0	0	0.001984	0	0
MYH15	22989	broad.mit.edu	37	3	108135752	108135752	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:108135752C>G	ENST00000273353.3	-	30	3971	c.3915G>C	c.(3913-3915)gaG>gaC	p.E1305D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1305						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGCCTCCTTCTCTTCAAGCC	0.438000													8	61					0	0	0.004482	0	0
HBD	3045	broad.mit.edu	37	11	5254027	5254027	+	Splice_Site	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5254027A>C	ENST00000292901.3	-	3	366	c.315_splice	c.e3-1	p.V106_splice				P02042	HBD_HUMAN	hemoglobin, delta	106					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTTACACACCTGGACAAA	0.398000													7	13					0	0	0.001984	0	0
CSPG4	1464	broad.mit.edu	37	15	75977614	75977614	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:75977614C>T	ENST00000308508.5	-	4	4310	c.4218G>A	c.(4216-4218)ctG>ctA	p.L1406L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1406	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCCTTCTGCAGGGCTCCAT	0.672000													5	56					0	0	0.000602	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755150	140755150	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140755150C>A	ENST00000517434.1	+	1	1500	c.1500C>A	c.(1498-1500)ccC>ccA	p.P500P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGGCGCCCCTGTCCTCCT	0.592000													26	141					3.73148e-12	8.61981e-12	0.001271	1	0
SOHLH2	54937	broad.mit.edu	37	13	36744767	36744767	+	Silent	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:36744767T>G	ENST00000379881.3	-	10	1246	c.1158A>C	c.(1156-1158)tcA>tcC	p.S386S	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S463S|SOHLH2_ENST00000554962.1_Silent_p.S463S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTAAATGAATTGAAATGTTCT	0.493000													7	63					0	0	0.004482	0	0
RC3H2	54542	broad.mit.edu	37	9	125643074	125643074	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:125643074C>A	ENST00000373670.1	-	5	1360		c.e5-1		RC3H2_ENST00000357244.2_Splice_Site|RC3H2_ENST00000373665.2_Splice_Site|RC3H2_ENST00000423239.2_Splice_Site|RC3H2_ENST00000335387.5_Splice_Site			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2							cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGGTAACCTAAAAAATAG	0.388000													4	23					0.00024832	0.000484196	0.000248	1	0
RYR2	6262	broad.mit.edu	37	1	237777906	237777906	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:237777906T>C	ENST00000366574.2	+	37	5795	c.5478T>C	c.(5476-5478)taT>taC	p.Y1826Y	RYR2_ENST00000360064.6_Silent_p.Y1824Y|RYR2_ENST00000542537.1_Silent_p.Y1810Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1826	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTTTTCTATACCCTGCTGA	0.493000													47	181					0	0	0.003610	0	0
MCOLN1	57192	broad.mit.edu	37	19	7594574	7594574	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7594574C>G	ENST00000264079.6	+	11	1460	c.1335C>G	c.(1333-1335)atC>atG	p.I445M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	445					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGCTGGATCGTGCTGGGGC	0.582000													20	99					0	0	0.001523	0	0
NSUN2	54888	broad.mit.edu	37	5	6611186	6611186	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:6611186C>T	ENST00000264670.6	-	11	1419	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	NSUN2_ENST00000539938.1_Missense_Mutation_p.D134N|NSUN2_ENST00000506139.1_Missense_Mutation_p.D335N	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	370						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTGCCCATCTTTCGTCATT	0.502000													20	80					0	0	0.002299	0	0
MNDA	4332	broad.mit.edu	37	1	158812150	158812150	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158812150C>A	ENST00000368141.4	+	2	468	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	69	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAGAACTTGCCAAAGATATGC	0.358000													31	74					5.60225e-13	1.30794e-12	0.001786	1	0
HSPA5	3309	broad.mit.edu	37	9	127998972	127998972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:127998972C>T	ENST00000324460.6	-	8	2067	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	622					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCTTCCAGTTCCTTCTTCTTA	0.418000										Prostate(1;0.17)			32	47					0	0	0.001512	0	0
PYGL	5836	broad.mit.edu	37	14	51390809	51390809	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:51390809C>G	ENST00000216392.7	-	5	870	c.538G>C	c.(538-540)Gca>Cca	p.A180P	PYGL_ENST00000544180.2_Missense_Mutation_p.A146P|PYGL_ENST00000532462.1_Missense_Mutation_p.A180P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	180					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAATCATCTGCTTCTTCTACC	0.383000													8	50					0	0	0.000443	0	0
DCDC1	341019	broad.mit.edu	37	11	31086167	31086167	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:31086167G>T	ENST00000597505.1	-	18	2439	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCACTTTCTTGCAGAACCTAA	0.398000													12	76					1.5842e-08	3.41618e-08	0.001855	1	0
ABCA12	26154	broad.mit.edu	37	2	215854053	215854053	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:215854053C>T	ENST00000272895.7	-	26	4048	c.3829_splice	c.e26+1	p.G1277_splice	ABCA12_ENST00000389661.4_Splice_Site_p.G959_splice	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1277					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACATTCATACCTGGGAAGACA	0.338000													5	26					0	0	0.000602	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773627	145773627	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:145773627G>A	ENST00000276826.5	-	4	1044	c.843C>T	c.(841-843)ctC>ctT	p.L281L	ARHGAP39_ENST00000377307.2_Silent_p.L281L|ARHGAP39_ENST00000540274.1_Silent_p.L281L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	281	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGCTCCCTGGGAGCTCGGCCC	0.692000													5	18					0	0	0.000602	0	0
FRMD7	90167	broad.mit.edu	37	X	131228105	131228105	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:131228105T>C	ENST00000298542.4	-	5	522	c.347A>G	c.(346-348)aAc>aGc	p.N116S	FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.N101S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	116	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CGCTGTACAGTTGTCACTGCA	0.423000													13	126					0	0	0.001368	0	0
ALPL	249	broad.mit.edu	37	1	21889671	21889671	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:21889671G>T	ENST00000374840.3	+	5	616	c.366G>T	c.(364-366)aaG>aaT	p.K122N	ALPL_ENST00000374832.1_Missense_Mutation_p.K122N|ALPL_ENST00000540617.1_Missense_Mutation_p.K67N|ALPL_ENST00000539907.1_Missense_Mutation_p.K45N|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.K122N	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	122					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GTGGGGTGAAGGCCAATGAGG	0.657000													13	66					0.000151284	0.00029664	0.001855	1	0
KIF13A	63971	broad.mit.edu	37	6	17764532	17764532	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:17764532C>T	ENST00000378814.5	-	37	5082	c.5083G>A	c.(5083-5085)Gag>Aag	p.E1695K	KIF13A_ENST00000378826.2_Missense_Mutation_p.E1708K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1695K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1708K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1743K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1743					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTCCCTCTGACACTCCC	0.493000													19	40					0	0	0.000743	0	0
LPL	4023	broad.mit.edu	37	8	19811807	19811807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:19811807C>T	ENST00000311322.8	+	5	1188	c.718C>T	c.(718-720)Cag>Tag	p.Q240*		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	240					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.Q240*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGGTACTTTTCAGCCAGGATG	0.443000													12	56					0	0	0.001368	0	0
CNTN1	1272	broad.mit.edu	37	12	41327310	41327310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:41327310G>A	ENST00000551295.2	+	8	868	c.751G>A	c.(751-753)Gta>Ata	p.V251I	CNTN1_ENST00000547702.1_Missense_Mutation_p.V251I|CNTN1_ENST00000360099.3_Missense_Mutation_p.V251I|CNTN1_ENST00000348761.2_Missense_Mutation_p.V240I|CNTN1_ENST00000347616.1_Missense_Mutation_p.V251I|CNTN1_ENST00000547849.1_Missense_Mutation_p.V251I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	251	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTTCAAGGATGTATATGCATT	0.299000													25	73					0	0	0.001512	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113208415	113208415	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:113208415T>C	ENST00000261965.3	-	8	1108	c.922A>G	c.(922-924)Acg>Gcg	p.T308A	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.T308A	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	308					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTCTGGTCCGTGTATCTTCTG	0.483000													39	57					0	0	0.001951	0	0
BPI	671	broad.mit.edu	37	20	36948668	36948668	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:36948668C>A	ENST00000262865.4	+	7	849	c.760C>A	c.(760-762)Cag>Aag	p.Q254K	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	254					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTGGATGTACAGATGAAGGT	0.483000													6	25					0.00116845	0.00223601	0.001168	1	0
FAM47B	170062	broad.mit.edu	37	X	34962278	34962278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:34962278C>T	ENST00000329357.5	+	1	1366	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	444										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGATACACCAAGCACAAT	0.512000													17	93					0	0	0.002299	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369101	86369101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:86369101C>A	ENST00000400286.2	-	2	2141	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	515						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGGTTATCCTCAAGGTCAATC	0.423000													10	81					0.000673444	0.0012944	0.000673	1	0
HNF1B	6928	broad.mit.edu	37	17	36093688	36093688	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36093688G>C	ENST00000225893.4	-	3	1032	c.671C>G	c.(670-672)tCt>tGt	p.S224C	HNF1B_ENST00000427275.2_Missense_Mutation_p.S198C|HNF1B_ENST00000561193.1_Missense_Mutation_p.S198C|HNF1B_ENST00000560016.1_Missense_Mutation_p.S224C	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	224					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGTGGGCTCAGAGCAGGCATC	0.552000													15	56					0	0	0.002450	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320138	79320138	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:79320138C>A	ENST00000419573.3	-	9	1600	c.1326G>T	c.(1324-1326)atG>atT	p.M442I	RASGRF1_ENST00000558480.2_Missense_Mutation_p.M442I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	442					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTCGATGATCATGCGCTCGA	0.562000													6	102					2.0095e-06	4.13957e-06	0.001984	1	0
OR8K3	219473	broad.mit.edu	37	11	56086553	56086553	+	Missense_Mutation	SNP	G	G	T	rs150576458	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56086553G>T	ENST00000312711.1	+	1	771	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGCTTTTCATGTACGTGCAGC	0.448000													9	57					5.4927e-09	1.19179e-08	0.004482	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144060360	144060360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:144060360G>T	ENST00000056217.5	+	2	772	c.598G>T	c.(598-600)Gaa>Taa	p.E200*		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	200					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGAAGGCTCTGAAAGTGGGAC	0.522000													16	518					1.3612e-06	2.82736e-06	0.003163	1	0
MROH9	80133	broad.mit.edu	37	1	170961323	170961323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:170961323G>A	ENST00000367759.4	+	12	1201	c.1047G>A	c.(1045-1047)tgG>tgA	p.W349*	MROH9_ENST00000367758.3_Nonsense_Mutation_p.W349*	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TACAGATGTGGAAGGCGGCAT	0.478000													5	41					0	0	0.000602	0	0
JPH2	57158	broad.mit.edu	37	20	42743470	42743470	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:42743470C>T	ENST00000372980.3	-	5	2929	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	686					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATGGCCAGGCCGATGTTCAG	0.637000													4	19					0	0	0.000602	0	0
TUBD1	51174	broad.mit.edu	37	17	57955478	57955478	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:57955478C>T	ENST00000325752.3	-	5	1032	c.755G>A	c.(754-756)aGa>aAa	p.R252K	TUBD1_ENST00000340993.6_Missense_Mutation_p.R252K|TUBD1_ENST00000539018.1_Missense_Mutation_p.R36K|TUBD1_ENST00000394239.3_Missense_Mutation_p.R252K|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.R252K|TUBD1_ENST00000592426.1_Missense_Mutation_p.R252K	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	252					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TGGATTTCGTCTGTAGTGAAA	0.408000													6	27					0	0	0.001168	0	0
OR6N2	81442	broad.mit.edu	37	1	158746552	158746552	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158746552G>T	ENST00000339258.1	-	1	873	c.874C>A	c.(874-876)Ctt>Att	p.L292I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTGTTACGAAGACTGTAGATA	0.418000													27	86					1.55811e-20	3.81574e-20	0.001512	1	0
COPB2	9276	broad.mit.edu	37	3	139090585	139090585	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:139090585T>C	ENST00000333188.5	-	10	1366	c.1185A>G	c.(1183-1185)gcA>gcG	p.A395A	COPB2_ENST00000507777.1_Silent_p.A366A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	395					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CGTGGGCCCATGCAAACTCCT	0.453000													7	102					0	0	0.001984	0	0
GPR179	440435	broad.mit.edu	37	17	36484653	36484653	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484653C>G	ENST00000342292.4	-	11	4819	c.4799G>C	c.(4798-4800)aGa>aCa	p.R1600T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1600						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCTCTTGTTCTTTCATTTAC	0.493000													10	183					0	0	0.000673	0	0
HUWE1	10075	broad.mit.edu	37	X	53571657	53571657	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:53571657G>C	ENST00000342160.3	-	71	11572	c.11115C>G	c.(11113-11115)ctC>ctG	p.L3705L	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Silent_p.L3705L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3705					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGGCAGCTGGAGCTCCCGGC	0.522000													5	93					0	0	0.000602	0	0
SLC30A7	148867	broad.mit.edu	37	1	101361893	101361893	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:101361893G>T	ENST00000370112.4	+	1	262	c.75G>T	c.(73-75)tgG>tgT	p.W25C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.W25C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	25					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCTCGGGCTGGTTTAGGTGCG	0.587000													10	63					0.000673444	0.0012944	0.000673	1	0
FOXK1	221937	broad.mit.edu	37	7	4796623	4796623	+	Splice_Site	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:4796623A>G	ENST00000328914.4	+	5	1050		c.e5-1		FOXK1_ENST00000446823.1_Splice_Site	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1						cell differentiation|embryo development|muscle organ 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|magnesium ion 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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCTTCCCTGCAGAATTCTATC	0.532000													7	42					0	0	0.003080	0	0
TCFL5	10732	broad.mit.edu	37	20	61488904	61488904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:61488904C>T	ENST00000335351.3	-	4	1173	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	TCFL5_ENST00000217162.5_Missense_Mutation_p.E313K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	361					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TTCTGAATCTCTCCAAGGGCT	0.562000													9	97					0	0	0.000443	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462953	5462953	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:5462953G>A	ENST00000296564.7	+	13	3728	c.3506G>A	c.(3505-3507)aGa>aAa	p.R1169K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1169										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						GAGCTGGATAGACTTTCCACA	0.428000													6	14					0	0	0.001168	0	0
ITCH	83737	broad.mit.edu	37	20	33068494	33068494	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:33068494G>C	ENST00000374864.4	+	19	2122	c.1909G>C	c.(1909-1911)Gaa>Caa	p.E637Q	ITCH_ENST00000535650.1_Missense_Mutation_p.E527Q|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.E678Q	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	678	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAAGGATTTAGAATCTATTGA	0.323000													18	43					0	0	0.000743	0	0
LINC00471	151477	broad.mit.edu	37	2	232373749	232373749	+	RNA	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:232373749C>G	ENST00000313064.2	-	0	669					NR_024079.1																						AGGCAGTTTTCAGAGGGATGG	0.507000													10	81					0	0	0.000443	0	0
NUP214	8021	broad.mit.edu	37	9	134073156	134073156	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073156C>G	ENST00000359428.5	+	29	4419	c.4275C>G	c.(4273-4275)atC>atG	p.I1425M	NUP214_ENST00000451030.1_Missense_Mutation_p.I1426M|NUP214_ENST00000483497.2_Missense_Mutation_p.I251M|NUP214_ENST00000411637.2_Missense_Mutation_p.I1415M|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1425	11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGGGGTCATCAGTTTTGGTG	0.537000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								17	102					0	0	0.000743	0	0
MUC17	140453	broad.mit.edu	37	7	100685079	100685079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100685079C>G	ENST00000306151.4	+	3	10446	c.10382C>G	c.(10381-10383)tCa>tGa	p.S3461*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3461	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCATTATCAATTATGCCT	0.502000													156	439					0	0	0.003610	0	0
OR56B4	196335	broad.mit.edu	37	11	6129218	6129218	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:6129218C>A	ENST00000316529.3	+	1	305	c.210C>A	c.(208-210)ggC>ggA	p.G70G		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTGCTGGGCATATTAGCAG	0.502000													11	34					3.86212e-05	7.69348e-05	0.000673	1	0
TBX5	6910	broad.mit.edu	37	12	114839711	114839711	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:114839711G>C	ENST00000310346.4	-	3	828	c.162C>G	c.(160-162)atC>atG	p.I54M	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.I54M|TBX5_ENST00000349716.5_Missense_Mutation_p.I4M|TBX5_ENST00000405440.2_Missense_Mutation_p.I54M	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	54			I -> T (in HOS).		cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAAACACTTTGATTCCCTCCA	0.473000													6	41					0	0	0.001168	0	0
CNTRL	11064	broad.mit.edu	37	9	123930380	123930380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:123930380C>T	ENST00000373855.1	+	38	6111	c.5851C>T	c.(5851-5853)Cag>Tag	p.Q1951*	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.Q1951*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.Q1399*			Q7Z7A1	CNTRL_HUMAN	centriolin	1951	Required for centrosome localization.				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						TAAGATGTTTCAGAGACTCCA	0.378000													4	16					0	0	0.000248	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590115	140590115	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140590115C>A	ENST00000239450.2	+	1	1825	c.1636C>A	c.(1636-1638)Ctg>Atg	p.L546M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L209M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		546	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L546M(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGAGGCGCTGGTGCGCGT	0.697000													19	76					0.00121646	0.00232282	0.001216	1	0
AMTN	401138	broad.mit.edu	37	4	71396868	71396868	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:71396868G>T	ENST00000339336.4	+	8	600	c.470G>T	c.(469-471)gGa>gTa	p.G157V	AMTN_ENST00000504451.1_Missense_Mutation_p.G156V	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	157					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CCAGCAGGAGGAGCAGGTGTA	0.607000													11	32					4.68919e-08	1.00131e-07	0.000673	1	0
STAG3	10734	broad.mit.edu	37	7	99779813	99779813	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:99779813C>A	ENST00000426455.1	+	3	624	c.217C>A	c.(217-219)Ccg>Acg	p.P73T	STAG3_ENST00000394018.2_Missense_Mutation_p.P73T|STAG3_ENST00000317296.5_Missense_Mutation_p.P73T			Q9UJ98	STAG3_HUMAN	stromal antigen 3	73					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAACAACACCGGTGAGTCA	0.502000													10	33					0.000442599	0.000856344	0.000443	1	0
KIF1A	547	broad.mit.edu	37	2	241727548	241727548	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:241727548C>T	ENST00000498729.2	-	4	529	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KIF1A_ENST00000320389.7_Missense_Mutation_p.A95T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	95	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGCCCATAGGCGAAGATGCAC	0.617000													5	13					0	0	0.000602	0	0
SUPT20H	55578	broad.mit.edu	37	13	37622712	37622712	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:37622712C>G	ENST00000360252.4	-	3	275	c.28G>C	c.(28-30)Gat>Cat	p.D10H	SUPT20H_ENST00000464744.1_Missense_Mutation_p.D10H|SUPT20H_ENST00000356185.3_Missense_Mutation_p.D10H|SUPT20H_ENST00000350612.6_Missense_Mutation_p.D10H|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D10H|SUPT20H_ENST00000470359.2_5'UTR	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TCTGCACGATCCAAAGCTAGT	0.269000													7	39					0	0	0.003080	0	0
IRS4	8471	broad.mit.edu	37	X	107977922	107977922	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107977922G>T	ENST00000372129.2	-	1	1729	c.1653C>A	c.(1651-1653)ggC>ggA	p.G551G		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	551						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						CACCTGCGGTGCCCTGGCCAT	0.642000													15	164					0.00244969	0.0046322	0.002450	1	0
MACC1	346389	broad.mit.edu	37	7	20198324	20198324	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:20198324C>A	ENST00000400331.5	-	5	1968	c.1660G>T	c.(1660-1662)Ggg>Tgg	p.G554W	MACC1_ENST00000332878.4_Missense_Mutation_p.G554W|MACC1_ENST00000589011.1_Missense_Mutation_p.G554W	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	554	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGGGTTACCCCATAGTTGCTA	0.378000													6	142					0.00116845	0.00223601	0.001168	1	0
DUSP5	1847	broad.mit.edu	37	10	112269778	112269778	+	Splice_Site	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:112269778A>T	ENST00000369583.3	+	4	1033	c.748_splice	c.e4-1	p.D250_splice	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	250	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTCCTTCCAGACTGTGTCAGG	0.483000													8	68					0	0	0.000443	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077033	57077033	+	Missense_Mutation	SNP	C	C	A	rs141886247	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57077033C>A	ENST00000532437.1	-	5	3463	c.3152G>T	c.(3151-3153)aGt>aTt	p.S1051I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1051I			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1051	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTAGCATCACTGTTTTGCCA	0.637000													24	56					9.86323e-18	2.39204e-17	0.003954	1	0
SOX3	6658	broad.mit.edu	37	X	139586788	139586788	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:139586788G>T	ENST00000370536.2	-	1	437	c.438C>A	c.(436-438)ttC>ttA	p.F146L		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	146					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ACCATACCATGAAGGCGTTCA	0.662000													18	34					0.00498961	0.00932423	0.004990	1	0
GPR179	440435	broad.mit.edu	37	17	36484183	36484183	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484183C>G	ENST00000342292.4	-	11	5289	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1757						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCACTCTGGGGTTGGC	0.547000													5	50					0	0	0.000602	0	0
GFM1	85476	broad.mit.edu	37	3	158399882	158399882	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:158399882T>A	ENST00000486715.1	+	14	2057	c.1700T>A	c.(1699-1701)tTg>tAg	p.L567*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.L586*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.L567*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	567					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TACACTAAATTGGAATTTTCA	0.368000													5	25					0	0	0.001168	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									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)		GGGGTAAAGGAGAGAAATCTC	0.363000													8	98					0	0	0.000443	0	0
DHFR	1719	broad.mit.edu	37	5	79945217	79945217	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:79945217C>T	ENST00000439211.2	-	3	726	c.233G>A	c.(232-234)aGa>aAa	p.R78K	DHFR_ENST00000511032.1_Missense_Mutation_p.R78K|DHFR_ENST00000505337.1_Missense_Mutation_p.R78K|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Missense_Mutation_p.R26K	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	78	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CTTGAGTTCTCTGCTGAGAAC	0.343000													9	34					0	0	0.000443	0	0
RLIM	51132	broad.mit.edu	37	X	73812474	73812474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:73812474C>T	ENST00000332687.6	-	4	894	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	RLIM_ENST00000349225.2_Missense_Mutation_p.E226K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	226					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTACTTCTTTCAGCTCTTGCT	0.468000													13	122					0	0	0.001368	0	0
ESRRG	2104	broad.mit.edu	37	1	216850521	216850521	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:216850521C>T	ENST00000391890.3	-	4	817	c.300G>A	c.(298-300)atG>atA	p.M100I	ESRRG_ENST00000361525.3_Missense_Mutation_p.M100I|ESRRG_ENST00000360012.3_Missense_Mutation_p.M100I|ESRRG_ENST00000487276.1_Missense_Mutation_p.M100I|ESRRG_ENST00000366938.2_Missense_Mutation_p.M100I|ESRRG_ENST00000361395.2_Missense_Mutation_p.M100I|ESRRG_ENST00000366937.1_Missense_Mutation_p.M128I|ESRRG_ENST00000366940.2_Missense_Mutation_p.M100I|ESRRG_ENST00000463665.1_Missense_Mutation_p.M100I|ESRRG_ENST00000408911.3_Missense_Mutation_p.M123I|ESRRG_ENST00000493748.1_Missense_Mutation_p.M100I|ESRRG_ENST00000359162.2_Missense_Mutation_p.M100I|ESRRG_ENST00000493603.1_Missense_Mutation_p.M100I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	123					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GTCTCTTGGGCATCGAGTTGA	0.498000													20	79					0	0	0.001523	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994191	140994191	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:140994191C>A	ENST00000285879.4	+	4	1287	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	334							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGTTTTCCCCAGTCTCTT	0.463000										HNSCC(15;0.026)			40	187					1.07121e-22	2.63439e-22	0.001485	1	0
IGSF1	3547	broad.mit.edu	37	X	130416528	130416528	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:130416528A>T	ENST00000370904.1	-	13	2019	c.1109T>A	c.(1108-1110)cTc>cAc	p.L370H	IGSF1_ENST00000370903.3_Missense_Mutation_p.L379H|IGSF1_ENST00000361420.3_Missense_Mutation_p.L379H|IGSF1_ENST00000370910.1_Missense_Mutation_p.L370H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	379	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACATTGTTGAGGAAGAATGA	0.453000													12	48					0	0	0.000978	0	0
MEFV	4210	broad.mit.edu	37	16	3304450	3304450	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3304450G>A	ENST00000219596.1	-	2	657	c.618C>T	c.(616-618)aaC>aaT	p.N206N	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	206					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGGAGCTGGCGTTTCTGCGCA	0.756000													10	40					0	0	0.000443	0	0
C12orf42	374470	broad.mit.edu	37	12	103699898	103699898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:103699898C>T	ENST00000548048.1	-	8	780	c.284G>A	c.(283-285)tGg>tAg	p.W95*	C12orf42_ENST00000548883.1_Nonsense_Mutation_p.W162*|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Nonsense_Mutation_p.W162*			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	162										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGAACTGTTCCAAGCCTGCTT	0.493000													13	48					0	0	0.002450	0	0
STK10	6793	broad.mit.edu	37	5	171471924	171471924	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:171471924C>T	ENST00000176763.5	-	19	3212	c.2869G>A	c.(2869-2871)Gcc>Acc	p.A957T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	957							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGAACTTGGCGGCCTTGCTT	0.597000													11	52					0	0	0.000978	0	0
FCRL4	83417	broad.mit.edu	37	1	157556230	157556230	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:157556230C>G	ENST00000271532.1	-	6	998	c.863G>C	c.(862-864)gGg>gCg	p.G288A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	288	Ig-like C2-type 4.					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)				CAGGAGCACCCCAGACACAGG	0.602000													25	60					0	0	0.005443	0	0
SATB2	23314	broad.mit.edu	37	2	200137230	200137230	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:200137230C>A	ENST00000443023.1	-	10	3194	c.1729G>T	c.(1729-1731)Gta>Tta	p.V577L	SATB2_ENST00000417098.1_Missense_Mutation_p.V636L|SATB2_ENST00000457245.1_Missense_Mutation_p.V636L|SATB2_ENST00000428695.1_Missense_Mutation_p.V518L|SATB2_ENST00000260926.5_Missense_Mutation_p.V636L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	636						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACAGGCCTACATCATGAATA	0.532000													13	67					0.00010058	0.000197439	0.001368	1	0
ZNF852	285346	broad.mit.edu	37	3	44541173	44541173	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:44541173G>C	ENST00000436261.1	-	4	1256	c.1096C>G	c.(1096-1098)Cag>Gag	p.Q366E	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	366					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TGAGAGATCTGATTGAAGGCT	0.418000													3	41					0	0	0.004672	0	0
OR4C3	256144	broad.mit.edu	37	11	48346907	48346907	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:48346907C>T	ENST00000319856.4	+	1	436	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGAGATCATTCTGCTCACAGT	0.488000													31	139					0	0	0.001512	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070547	32070547	+	RNA	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:32070547T>G	ENST00000566806.1	-	0	499																											GCCCACTTCCTGGTGCAGCTG	0.577000													6	42					0	0	0.001368	0	0
NUDCD1	84955	broad.mit.edu	37	8	110293364	110293364	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110293364C>G	ENST00000239690.4	-	6	1235	c.861G>C	c.(859-861)ttG>ttC	p.L287F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L258F	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	287	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGGTTACTGTCAAATCATCTT	0.363000													4	51					0	0	0.000602	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532037	84532037	+	RNA	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:84532037C>A	ENST00000527857.1	+	0	2059					NR_026851.1																						CCATCTCCATCATTCCTGGAG	0.488000													5	64					7.48243e-07	1.56159e-06	0.000443	1	0
RRN3	54700	broad.mit.edu	37	16	15179505	15179505	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:15179505C>T	ENST00000198767.6	-	6	606	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.E175K|RRN3_ENST00000564131.1_Missense_Mutation_p.E175K|RRN3_ENST00000540462.1_Missense_Mutation_p.E26K|RRN3_ENST00000327307.7_Missense_Mutation_p.E142K|RRN3_ENST00000429751.2_Missense_Mutation_p.E145K	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	175					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTATCATCTTCATCATCAGAA	0.408000													5	26					0	0	0.000602	0	0
ANXA7	310	broad.mit.edu	37	10	75156946	75156946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:75156946C>A	ENST00000372921.4	-	4	402	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	116	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TGTGCTGGACCACCTCCATAA	0.463000													6	25					0.00307968	0.00578596	0.003080	1	0
SIRPG	55423	broad.mit.edu	37	20	1616920	1616920	+	Missense_Mutation	SNP	C	C	T	rs148726891		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:1616920C>T	ENST00000381580.1	-	3	742	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SIRPG_ENST00000303415.3_Missense_Mutation_p.R221H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.R221H|SIRPG_ENST00000381583.2_Missense_Mutation_p.R221H			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	221	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GACCTGAGAGCGAACGTCCCA	0.617000													21	75					0	0	0.001882	0	0
ABCC9	10060	broad.mit.edu	37	12	21970227	21970227	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:21970227C>A	ENST00000261200.4	-	31	3785	c.3786G>T	c.(3784-3786)ttG>ttT	p.L1262F	ABCC9_ENST00000261201.4_Missense_Mutation_p.L1262F|ABCC9_ENST00000345162.2_Missense_Mutation_p.L1226F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1262	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAACCCAATTCAAATAATTGG	0.383000													11	65					3.86212e-05	7.69348e-05	0.000673	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764339	140764339	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140764339G>A	ENST00000518325.1	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGGTGCGCAC	0.647000													8	63					0	0	0.004482	0	0
CR1	1378	broad.mit.edu	37	1	207753627	207753627	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207753627C>T	ENST00000367049.4	+	30	4979	c.4979C>T	c.(4978-4980)cCa>cTa	p.P1660L	CR1_ENST00000367051.1_Missense_Mutation_p.P1210L|CR1_ENST00000367053.1_Missense_Mutation_p.P1210L|CR1_ENST00000400960.2_Missense_Mutation_p.P1210L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1210L|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1210	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCATACCCCAAGCCATCAG	0.537000													10	177					0	0	0.000978	0	0
FMN2	56776	broad.mit.edu	37	1	240255773	240255773	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:240255773A>G	ENST00000319653.9	+	1	594	c.364A>G	c.(364-366)Agc>Ggc	p.S122G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	122					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCAGACCTCAGCCTCTCGGC	0.687000													4	11					0	0	0.000248	0	0
TLN1	7094	broad.mit.edu	37	9	35707190	35707190	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35707190C>G	ENST00000314888.9	-	37	5187	c.4834G>C	c.(4834-4836)Gga>Cga	p.G1612R	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.G1612R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1612	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGATGAGTCCCCCGGCACTC	0.637000													11	48					0	0	0.000978	0	0
RC3H1	149041	broad.mit.edu	37	1	173934113	173934113	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:173934113G>C	ENST00000367696.2	-	10	1831	c.1480C>G	c.(1480-1482)Cca>Gca	p.P494A	RC3H1_ENST00000258349.4_Missense_Mutation_p.P494A|RC3H1_ENST00000367694.2_Missense_Mutation_p.P494A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	494					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATTCCATTTGGCAGAGCAGGA	0.478000													34	87					0	0	0.004878	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275158	2275158	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2275158G>C	ENST00000242257.8	-	3	368	c.340C>G	c.(340-342)Ctt>Gtt	p.L114V	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.L20V|FTSJ2_ENST00000486040.1_5'UTR	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	114					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		AATATGTGAAGAAGATCTACC	0.468000													10	51					0	0	0.000673	0	0
RNF144B	255488	broad.mit.edu	37	6	18459890	18459890	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:18459890C>T	ENST00000259939.3	+	6	906	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RNF144B_ENST00000429054.2_Missense_Mutation_p.R108W	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	197					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CCCAGTTTGCCGGGTTTATAT	0.468000													5	74					0	0	0.000602	0	0
PAGE5	90737	broad.mit.edu	37	X	55248198	55248198	+	Splice_Site	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:55248198A>C	ENST00000289619.5	+	3	386		c.e3-1		PAGE5_ENST00000374955.3_Splice_Site|PAGE5_ENST00000374952.1_Splice_Site	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TTACACCCTTAGGTCCAGCAG	0.393000													7	11					0	0	0.003080	0	0
SEMA3C	10512	broad.mit.edu	37	7	80394477	80394477	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:80394477G>C	ENST00000265361.3	-	13	1998	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V	SEMA3C_ENST00000419255.2_Silent_p.V479V|SEMA3C_ENST00000544525.1_Silent_p.V497V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	479	Sema.				immune response|response to drug	membrane	receptor activity			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						AAACCTTAAAGACTTCCAGCT	0.378000													4	70					0	0	0.000248	0	0
ZNF473	25888	broad.mit.edu	37	19	50549315	50549315	+	Silent	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:50549315A>C	ENST00000595661.1	+	6	2110	c.1615A>C	c.(1615-1617)Aga>Cga	p.R539R	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.R539R|ZNF473_ENST00000270617.3_Silent_p.R539R|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.R527R			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	539	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTCACGCCAGAGAAAAACA	0.443000													14	49					0	0	0.004990	0	0
FAM217B	63939	broad.mit.edu	37	20	58519303	58519303	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:58519303G>A	ENST00000358293.3	+	5	720	c.305G>A	c.(304-306)aGa>aAa	p.R102K	FAM217B_ENST00000360816.3_Missense_Mutation_p.R102K|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	102								p.R102I(1)									GATTCGGAAAGAATTCCCATT	0.433000													7	41					0	0	0.001984	0	0
SNX8	29886	broad.mit.edu	37	7	2297046	2297046	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2297046T>C	ENST00000222990.3	-	9	1130	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	363					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCTCGCGGTTCTGCGCGGT	0.677000													5	17					0	0	0.001168	0	0
CRB3	92359	broad.mit.edu	37	19	6465616	6465616	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:6465616C>G	ENST00000598494.1	+	3	674	c.143C>G	c.(142-144)tCc>tGc	p.S48C	CRB3_ENST00000308243.7_Missense_Mutation_p.S48C|CRB3_ENST00000356762.3_Missense_Mutation_p.S48C|CRB3_ENST00000600229.1_Missense_Mutation_p.S48C			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	48					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						AGCTCCAGCTCCGATGGCAAC	0.493000													48	199					0	0	0.003610	0	0
DBT	1629	broad.mit.edu	37	1	100681578	100681578	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:100681578G>C	ENST00000370132.3	-	6	746	c.733C>G	c.(733-735)Ccg>Gcg	p.P245A	DBT_ENST00000370131.3_Missense_Mutation_p.P245A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	245					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GTGAATACCGGAGGTTTTGAT	0.388000													18	101					0	0	0.001216	0	0
RAC1	5879	broad.mit.edu	37	7	6441557	6441557	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:6441557A>G	ENST00000348035.4	+	5	560	c.347A>G	c.(346-348)aAa>aGa	p.K116R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.K135R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	116					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GTGGGAACTAAACTTGATCTT	0.488000													4	81					0	0	0.000248	0	0
OGG1	4968	broad.mit.edu	37	3	9796474	9796474	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:9796474G>C	ENST00000302036.7	+	4	995	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	OGG1_ENST00000344629.7_Missense_Mutation_p.E218Q|OGG1_ENST00000339511.5_Missense_Mutation_p.E218Q|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Missense_Mutation_p.E218Q|OGG1_ENST00000302003.7_Missense_Mutation_p.E218Q|OGG1_ENST00000349503.5_Missense_Mutation_p.E218Q|OGG1_ENST00000449570.2_Missense_Mutation_p.E218Q	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	218					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CATCCTGGAAGAACAGGGCGG	0.642000								Base excision repair (BER), DNA glycosylases					5	16					0	0	0.000602	0	0
PSME4	23198	broad.mit.edu	37	2	54148034	54148034	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:54148034G>C	ENST00000404125.1	-	18	2309	c.2254C>G	c.(2254-2256)Cct>Gct	p.P752A	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	752					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCTTGATAGGAAAGTATTCA	0.363000													7	66					0	0	0.003080	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254265	30254265	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30254265T>C	ENST00000361644.2	+	5	961	c.224T>C	c.(223-225)gTa>gCa	p.V75A	MAGEB3_ENST00000378986.1_Missense_Mutation_p.V75A	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTACATCTGTAGATGTTTCT	0.458000													5	17					0	0	0.000602	0	0
ZNF347	84671	broad.mit.edu	37	19	53643887	53643887	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53643887T>G	ENST00000452676.2	-	5	2623	c.2197A>C	c.(2197-2199)Act>Cct	p.T733P	ZNF347_ENST00000601469.2_Missense_Mutation_p.T733P|ZNF347_ENST00000334197.7_Missense_Mutation_p.T732P|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTTTTTCCAGTATGGATTGCC	0.433000													35	123					0	0	0.003755	0	0
TKTL1	8277	broad.mit.edu	37	X	153539314	153539314	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153539314C>G	ENST00000369915.3	+	4	667	c.478C>G	c.(478-480)Cac>Gac	p.H160D	TKTL1_ENST00000369912.2_Missense_Mutation_p.H104D|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	160					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCTGGGACACAGTGGTGC	0.512000													7	75					0	0	0.001984	0	0
NHS	4810	broad.mit.edu	37	X	17746379	17746379	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:17746379G>T	ENST00000380060.3	+	6	4428	c.4090G>T	c.(4090-4092)Gcc>Tcc	p.A1364S	NHS_ENST00000398097.3_Missense_Mutation_p.A1208S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1364						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGTATTTCAGCCAAAAGTGC	0.403000													17	36					5.3912e-06	1.09767e-05	0.000743	1	0
PIK3CG	5294	broad.mit.edu	37	7	106509407	106509407	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:106509407G>T	ENST00000359195.3	+	2	1711	c.1401G>T	c.(1399-1401)ctG>ctT	p.L467L	PIK3CG_ENST00000440650.2_Silent_p.L467L|PIK3CG_ENST00000496166.1_Silent_p.L467L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	467					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAACCTGCTGCTGATAGACC	0.532000													32	62					5.6714e-07	1.18787e-06	0.002096	1	0
ZNF536	9745	broad.mit.edu	37	19	30936467	30936467	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:30936467G>T	ENST00000355537.3	+	2	2145	c.1998G>T	c.(1996-1998)gtG>gtT	p.V666V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTGCACGTGGGCCTGGATG	0.701000													13	43					0.00136819	0.0026097	0.001368	1	0
ZNF587B	100293516	broad.mit.edu	37	19	58331292	58331292	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:58331292T>A	ENST00000316462.4	+	1	194	c.12T>A	c.(10-12)gcT>gcA	p.A4A	ZNF586_ENST00000599802.1_3'UTR|CTD-2583A14.10_ENST00000598031.1_Silent_p.A4A			B4DR41	B4DR41_HUMAN	zinc finger protein 587B	5					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TGGCTGCGGCTGCGCCGAGGC	0.642000													3	6					0	0	0.004672	0	0
PLEK	5341	broad.mit.edu	37	2	68609701	68609701	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:68609701T>A	ENST00000234313.7	+	4	587	c.408T>A	c.(406-408)acT>acA	p.T136T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	136	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGAAAGACACTGAAAAAGGAA	0.378000													28	70					0	0	0.001061	0	0
OR2T33	391195	broad.mit.edu	37	1	248437009	248437009	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248437009G>T	ENST00000318021.2	-	1	129	c.108C>A	c.(106-108)tcC>tcA	p.S36S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCCAAACAGGGAGGTCAAAA	0.488000													21	83					3.1745e-13	7.43121e-13	0.001512	1	0
LAMA2	3908	broad.mit.edu	37	6	129513899	129513899	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:129513899G>T	ENST00000421865.2	+	12	1732	c.1683G>T	c.(1681-1683)ttG>ttT	p.L561F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	561	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGACGACTTGGACTCACCTC	0.557000													7	42					0.00198382	0.00375531	0.001984	1	0
OR5D13	390142	broad.mit.edu	37	11	55541290	55541290	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55541290T>G	ENST00000361760.1	+	1	377	c.377T>G	c.(376-378)gTg>gGg	p.V126G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GACCGTTTTGTGGCAGTTTGT	0.448000													37	182					0	0	0.001485	0	0
MID2	11043	broad.mit.edu	37	X	107148729	107148729	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107148729G>C	ENST00000262843.6	+	5	1494	c.946G>C	c.(946-948)Gca>Cca	p.A316P	MID2_ENST00000443968.2_Missense_Mutation_p.A316P|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	316						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GAGAAAGTTGGCACAGCAGGT	0.373000													7	111					0	0	0.003080	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939090	6939090	+	RNA	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:6939090A>T	ENST00000251761.8	+	0	599				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						ATGCACCTGCAGATGCGGGAG	0.602000													25	91					0	0	0.005443	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857875	101857875	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101857875C>T	ENST00000604957.1	+	1	3428	c.806C>T	c.(805-807)cCt>cTt	p.P269L	ARMCX5_ENST00000372742.1_Missense_Mutation_p.P269L|ARMCX5_ENST00000536530.1_Missense_Mutation_p.P269L|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P269L|ARMCX5_ENST00000541409.1_Missense_Mutation_p.P269L|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P269L	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAGATCCCACCTTATCATGGG	0.488000													10	119					0	0	0.000978	0	0
APH1A	51107	broad.mit.edu	37	1	150239858	150239858	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:150239858T>A	ENST00000360244.4	-	4	871	c.379A>T	c.(379-381)Atc>Ttc	p.I127F	APH1A_ENST00000414276.2_Missense_Mutation_p.I57F|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.I127F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	127					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)			CCACTGATGATACCGAAGGAG	0.498000													25	37					0	0	0.005443	0	0
GJC2	57165	broad.mit.edu	37	1	228346341	228346341	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:228346341G>C	ENST00000366714.2	+	2	1057	c.882G>C	c.(880-882)gcG>gcC	p.A294A		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	294					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGGGCAGCGCGCAGGACGCGG	0.741000													14	37					0	0	0.003163	0	0
BTNL9	153579	broad.mit.edu	37	5	180477289	180477289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:180477289C>G	ENST00000327705.9	+	4	887	c.656C>G	c.(655-657)gCg>gGg	p.A219G	BTNL9_ENST00000376842.3_Missense_Mutation_p.A219G|BTNL9_ENST00000515271.1_Missense_Mutation_p.A150G|BTNL9_ENST00000376841.2_Missense_Mutation_p.A219G	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	219						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGTCCGAGCGGGAGCCCTC	0.557000													24	91					0	0	0.002780	0	0
AP1S2	8905	broad.mit.edu	37	X	15863569	15863569	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:15863569C>A	ENST00000380291.1	-	4	475	c.359G>T	c.(358-360)gGg>gTg	p.G120V	AP1S2_ENST00000479184.1_5'UTR|AP1S2_ENST00000421527.2_Missense_Mutation_p.G162V|AP1S2_ENST00000329235.2_Missense_Mutation_p.G120V|AP1S2_ENST00000545766.1_Missense_Mutation_p.G162V			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	120					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					CTGAACTTCCCCTCCCAAAAG	0.358000													21	73					5.35047e-06	1.09192e-05	0.003330	1	0
P2RY10	27334	broad.mit.edu	37	X	78216597	78216597	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:78216597G>T	ENST00000171757.2	+	4	860	c.580G>T	c.(580-582)Gcg>Tcg	p.A194S	P2RY10_ENST00000544091.1_Missense_Mutation_p.A194S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	194						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A194T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAATGCAGTTGCGTTGGTCGG	0.458000													6	66					1.06961e-07	2.27017e-07	0.003080	1	0
GK	2710	broad.mit.edu	37	X	30738843	30738843	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30738843C>A	ENST00000378943.3	+	16	1503	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M	RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.L442M|GK_ENST00000378946.3_Missense_Mutation_p.L448M|GK_ENST00000427190.1_Missense_Mutation_p.L243M	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	448					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AGCAGACATTCTGTATATACC	0.398000													32	86					3.03874e-20	7.42097e-20	0.003271	1	0
GAS2L3	283431	broad.mit.edu	37	12	101017491	101017491	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:101017491G>T	ENST00000537247.1	+	10	1550	c.596G>T	c.(595-597)aGt>aTt	p.S199I	GAS2L3_ENST00000539410.1_Missense_Mutation_p.S303I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S303I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S303I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	303					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTAATGAAAGTGTACCTGAT	0.378000													7	45					2.0095e-06	4.13957e-06	0.001984	1	0
HIST1H3G	8355	broad.mit.edu	37	6	26271337	26271337	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:26271337G>T	ENST00000305910.3	-	1	275	c.276C>A	c.(274-276)gcC>gcA	p.A92A		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	92					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCCTGCAGGGCCATCACCG	0.562000													29	122					1.1423e-28	2.84116e-28	0.001786	1	0
IFT172	26160	broad.mit.edu	37	2	27670397	27670397	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:27670397C>G	ENST00000260570.3	-	42	4747	c.4644G>C	c.(4642-4644)caG>caC	p.Q1548H		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1548					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTTTGACACTCTGGGCTGCAG	0.498000													19	190					0	0	0.001882	0	0
PARP14	54625	broad.mit.edu	37	3	122437543	122437543	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122437543C>G	ENST00000474629.2	+	14	4811	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGCGATGATCAAGAGAGTTC	0.383000													21	229					0	0	0.001216	0	0
CPM	1368	broad.mit.edu	37	12	69265656	69265656	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:69265656C>G	ENST00000551568.1	-	4	399	c.339G>C	c.(337-339)ctG>ctC	p.L113L	CPM_ENST00000338356.3_Silent_p.L113L|CPM_ENST00000546373.1_Silent_p.L113L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	113					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TACTATTGATCAGATTTGTGA	0.443000													14	83					0	0	0.002450	0	0
FABP2	2169	broad.mit.edu	37	4	120240198	120240198	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:120240198A>T	ENST00000274024.3	-	4	684	c.397T>A	c.(397-399)Tga>Aga	p.*133R		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	0							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AATAATGCTCAATCCTTTTTA	0.328000													14	74					0	0	0.000743	0	0
APOL2	23780	broad.mit.edu	37	22	36629289	36629289	+	Splice_Site	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:36629289T>C	ENST00000249066.6	-	4	398		c.e4-2		APOL2_ENST00000451256.2_Splice_Site|APOL2_ENST00000358502.5_Splice_Site	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCCTTAACCCTTGAGAACGAG	0.567000													30	38					0	0	0.001061	0	0
ATOH1	474	broad.mit.edu	37	4	94750474	94750474	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:94750474G>C	ENST00000306011.3	+	1	433	c.397G>C	c.(397-399)Ggc>Cgc	p.G133R		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	133					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAAGCTGAAAGGCGGGGTGGT	0.672000													3	44					0	0	0.004672	0	0
PLXNC1	10154	broad.mit.edu	37	12	94694716	94694716	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:94694716G>A	ENST00000258526.4	+	28	4518	c.4269G>A	c.(4267-4269)ctG>ctA	p.L1423L	PLXNC1_ENST00000545312.1_Silent_p.L162L|PLXNC1_ENST00000547057.1_Silent_p.L470L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1423					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TAAACATCCTGAAGAACCCTC	0.423000													14	52					0	0	0.003163	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535434	27535434	+	RNA	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:27535434A>T	ENST00000574842.1	+	0	255																											AGCTCACTCGACTTCTGCTCT	0.398000													12	74					0	0	0.000978	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237159	5237159	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:5237159G>T	ENST00000274181.7	+	14	2239	c.2101G>T	c.(2101-2103)Ggg>Tgg	p.G701W	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G701W(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTCAAAGATGGGACTCCATG	0.373000													16	55					4.14922e-12	9.57217e-12	0.004007	1	0
BAI3	577	broad.mit.edu	37	6	69949029	69949029	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:69949029G>C	ENST00000370598.1	+	20	3546	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	BAI3_ENST00000238918.8_Missense_Mutation_p.E115Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	909					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATACGCTCTGAGAGATCCAT	0.373000													12	142					0	0	0.004007	0	0
KCNH4	23415	broad.mit.edu	37	17	40315263	40315263	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:40315263G>A	ENST00000264661.3	-	14	2899	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S856F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	856					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCGCCTGGGAGCGGGGCCT	0.597000													11	46					0	0	0.001368	0	0
TEX15	56154	broad.mit.edu	37	8	30702709	30702709	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:30702709C>G	ENST00000256246.2	-	1	3899	c.3825G>C	c.(3823-3825)gtG>gtC	p.V1275V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1275										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAAGTGCTTCACATTTGAAT	0.358000													13	34					0	0	0.001855	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626924	43626924	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:43626924C>A	ENST00000332857.6	-	4	1791	c.1763G>T	c.(1762-1764)aGt>aTt	p.S588I		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GAGTTCAGGACTGACTGGAAA	0.493000													13	128					2.37509e-13	5.57478e-13	0.001523	1	0
SLFN12	55106	broad.mit.edu	37	17	33749704	33749704	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:33749704G>C	ENST00000394562.1	-	4	867	c.344C>G	c.(343-345)tCt>tGt	p.S115C	SLFN12_ENST00000452764.3_Missense_Mutation_p.S115C|SLFN12_ENST00000304905.5_Missense_Mutation_p.S115C			Q8IYM2	SLN12_HUMAN	schlafen family member 12	115							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGCAGACCAGAGGTGTTCAA	0.398000													9	54					0	0	0.004482	0	0
DLGAP1	9229	broad.mit.edu	37	18	3880032	3880032	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:3880032C>G	ENST00000315677.3	-	4	632	c.37G>C	c.(37-39)Ggg>Cgg	p.G13R	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.G13R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.G13R|DLGAP1_ENST00000584874.1_Missense_Mutation_p.G13R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	13					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGTGACCCCGTGGTGATGG	0.662000													11	25					0	0	0.001368	0	0
BCOR	54880	broad.mit.edu	37	X	39932751	39932751	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:39932751G>T	ENST00000342274.4	-	4	2210	c.1848C>A	c.(1846-1848)ggC>ggA	p.G616G	BCOR_ENST00000397354.3_Silent_p.G616G|BCOR_ENST00000378444.4_Silent_p.G616G|BCOR_ENST00000378455.4_Silent_p.G616G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	616					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCTTTGGCGCCCTTGCTGC	0.567000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						22	67					4.26978e-12	9.81152e-12	0.003330	1	0
MTOR	2475	broad.mit.edu	37	1	11206848	11206848	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:11206848C>A	ENST00000361445.4	-	32	4647	c.4570_splice	c.e32-1	p.G1524_splice	MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1524	FAT.				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						GTCCCACTGACCTATACACAC	0.488000													18	40					1.33834e-09	2.95887e-09	0.000958	1	0
SF3B3	23450	broad.mit.edu	37	16	70573046	70573046	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:70573046G>T	ENST00000302516.5	+	8	1214	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	335					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TACTGTACCCGTTGCTGCTGC	0.423000													43	90					2.215e-12	5.14176e-12	0.002852	1	0
AMER3	205147	broad.mit.edu	37	2	131520753	131520753	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:131520753G>C	ENST00000423981.1	+	2	1218	c.1108G>C	c.(1108-1110)Ggc>Cgc	p.G370R	AMER3_ENST00000321420.4_Missense_Mutation_p.G370R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CATCGACACAGGCACCCCCAA	0.627000													6	35					0	0	0.001168	0	0
NUP214	8021	broad.mit.edu	37	9	134073559	134073559	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073559C>A	ENST00000359428.5	+	29	4822	c.4678C>A	c.(4678-4680)Ctt>Att	p.L1560I	NUP214_ENST00000451030.1_Missense_Mutation_p.L1561I|NUP214_ENST00000483497.2_Missense_Mutation_p.L386I|NUP214_ENST00000411637.2_Missense_Mutation_p.L1550I			P35658	NU214_HUMAN	nucleoporin 214kDa	1560	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAGTACTAGTCTTGTAGCACT	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								9	63					5.4927e-09	1.19179e-08	0.004482	1	0
KLHL34	257240	broad.mit.edu	37	X	21675204	21675204	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:21675204G>T	ENST00000379499.2	-	1	1244	c.703C>A	c.(703-705)Cgc>Agc	p.R235S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	235	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GAGTACACGCGCCGCAGTACG	0.667000													36	32					6.19805e-25	1.53722e-24	0.005524	1	0
RGL4	266747	broad.mit.edu	37	22	24039430	24039430	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:24039430G>C	ENST00000290691.5	+	8	2404	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	RGL4_ENST00000401461.1_Missense_Mutation_p.D276H	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	412	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGACGACCTGGATGTGAGTGA	0.607000													6	81					0	0	0.001168	0	0
LRRC37B	114659	broad.mit.edu	37	17	30374901	30374901	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:30374901C>G	ENST00000327564.7	+	9	2506	c.2445C>G	c.(2443-2445)atC>atG	p.I815M	LRRC37B_ENST00000543378.2_Missense_Mutation_p.I706M|LRRC37B_ENST00000394713.3_Missense_Mutation_p.I737M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I788M|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I749M			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	788						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCAGTGGCATCAACTTGTCAG	0.507000													25	309					0	0	0.003954	0	0
FGD4	121512	broad.mit.edu	37	12	32793299	32793299	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:32793299G>T	ENST00000427716.2	+	17	2557	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	FGD4_ENST00000534526.2_Silent_p.L848L|FGD4_ENST00000531134.1_Silent_p.L796L|FGD4_ENST00000525053.1_Silent_p.L823L|FGD4_ENST00000546442.1_Silent_p.L618L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	711	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTCAAACTGACCCAGTCTA	0.517000													19	95					5.35267e-07	1.12246e-06	0.000958	1	0
MUC16	94025	broad.mit.edu	37	19	9048498	9048498	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9048498G>A	ENST00000397910.4	-	5	33336	c.33133C>T	c.(33133-33135)Ctg>Ttg	p.L11045L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11047	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						CTAGTGACCAGAGAGGTCACC	0.493000													18	75					0	0	0.004990	0	0
TLE4	7091	broad.mit.edu	37	9	82227616	82227616	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:82227616C>G	ENST00000376520.4	+	5	1126	c.298C>G	c.(298-300)Cct>Gct	p.P100A	TLE4_ENST00000265284.6_Missense_Mutation_p.P100A|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Missense_Mutation_p.P100A|TLE4_ENST00000376537.4_Missense_Mutation_p.P100A|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.P100A			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAAGTCATTCCTTTCCTGTC	0.418000													6	88					0	0	0.001984	0	0
ZNF835	90485	broad.mit.edu	37	19	57176264	57176264	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:57176264C>G	ENST00000537055.2	-	2	534	c.303G>C	c.(301-303)gaG>gaC	p.E101D		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCCACCTCTCTCCCGCTGGC	0.642000													16	45					0	0	0.004990	0	0
TPP2	7174	broad.mit.edu	37	13	103282533	103282533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:103282533C>G	ENST00000376052.3	+	10	1248	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	TPP2_ENST00000376065.4_Missense_Mutation_p.S411C			P29144	TPP2_HUMAN	tripeptidyl peptidase II	411					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTGGTCTTCTAGAGGACCT	0.413000													14	41					0	0	0.004007	0	0
RPRML	388394	broad.mit.edu	37	17	45056164	45056164	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:45056164G>T	ENST00000322329.3	-	1	450	c.210C>A	c.(208-210)atC>atA	p.I70I	GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.2_ENST00000571841.1_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	70						integral to membrane				lung(1)	1						AGAGCACGGCGATCTGCGCCA	0.687000													30	33					1.57351e-24	3.89706e-24	0.003755	1	0
ABCC12	94160	broad.mit.edu	37	16	48145806	48145806	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:48145806C>G	ENST00000311303.3	-	14	2350	c.2005G>C	c.(2005-2007)Gat>Cat	p.D669H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.D669H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	669	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATAACTTCATCACAAGACTCT	0.433000													6	33					0	0	0.001168	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558977	129558977	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:129558977C>G	ENST00000422113.2	-	9	3069	c.2743G>C	c.(2743-2745)Gac>Cac	p.D915H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D453H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	915						integral to membrane		p.D915N(1)		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)		ATTTCTAAGTCGCTCAGCCCT	0.488000													10	52					0	0	0.000443	0	0
TET2	54790	broad.mit.edu	37	4	106156786	106156786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:106156786G>T	ENST00000540549.1	+	3	2547	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*	TET2_ENST00000305737.2_Nonsense_Mutation_p.G563*|TET2_ENST00000513237.1_Nonsense_Mutation_p.G584*|TET2_ENST00000394764.1_Nonsense_Mutation_p.G563*|TET2_ENST00000545826.1_Nonsense_Mutation_p.G563*|TET2_ENST00000413648.2_Nonsense_Mutation_p.G563*|TET2_ENST00000380013.4_Nonsense_Mutation_p.G563*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	563					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTGAAACCAGGATGGATTGA	0.463000			"""Mis N, F"""		MDS								21	73					9.95505e-16	2.39441e-15	0.002299	1	0
MTERFD1	51001	broad.mit.edu	37	8	97270606	97270606	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:97270606C>G	ENST00000523821.1	-	2	432	c.313G>C	c.(313-315)Gat>Cat	p.D105H	MTERFD1_ENST00000287025.3_Missense_Mutation_p.D105H			Q96E29	MTER1_HUMAN	MTERF domain containing 1	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGCTCAGAATCAAAGCTGGAT	0.413000													6	36					0	0	0.001168	0	0
FHOD3	80206	broad.mit.edu	37	18	34261476	34261476	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:34261476G>T	ENST00000257209.4	+	12	1510	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.R425L|FHOD3_ENST00000590592.1_Missense_Mutation_p.R638L|FHOD3_ENST00000359247.4_Missense_Mutation_p.R463L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	463					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGAGGCGGCGGCAGGAGAGA	0.433000													11	54					0.000673444	0.0012944	0.000673	1	0
CCDC170	80129	broad.mit.edu	37	6	151939225	151939225	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:151939225A>G	ENST00000367290.5	+	11	2201	c.2112A>G	c.(2110-2112)aaA>aaG	p.K704K	CCDC170_ENST00000239374.7_Silent_p.K697K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	697																	CCTGCCTCAAAGATGTGACTA	0.463000													11	58					0	0	0.001368	0	0
CDK9	1025	broad.mit.edu	37	9	130551532	130551532	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:130551532G>A	ENST00000373265.2	+	7	1180	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	CDK9_ENST00000373264.4_Missense_Mutation_p.D277N			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	277					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GAAGGTGAAGGACAGGCTGAA	0.602000													12	31					0	0	0.001368	0	0
FBN2	2201	broad.mit.edu	37	5	127647623	127647623	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127647623G>C	ENST00000508053.1	-	44	5876	c.4902C>G	c.(4900-4902)ccC>ccG	p.P1634P	FBN2_ENST00000262464.4_Silent_p.P1634P			P35556	FBN2_HUMAN	fibrillin 2	1634					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTCACCTCCGGGACACAGGG	0.408000													7	30					0	0	0.003080	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998664	120998664	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:120998664G>T	ENST00000273666.6	+	19	2242	c.1971G>T	c.(1969-1971)ggG>ggT	p.G657G	STXBP5L_ENST00000497029.1_Silent_p.G657G|STXBP5L_ENST00000472879.1_Silent_p.G657G|STXBP5L_ENST00000471454.1_Silent_p.G657G|STXBP5L_ENST00000492541.1_Silent_p.G657G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	657					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTGCATTTGGGAACTGCAATG	0.353000													11	75					2.80697e-09	6.15916e-09	0.000978	1	0
CPVL	54504	broad.mit.edu	37	7	29111998	29111998	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:29111998G>A	ENST00000409850.1	-	12	1297	c.651C>T	c.(649-651)atC>atT	p.I217I	CPVL_ENST00000396276.3_Silent_p.I217I|CPVL_ENST00000265394.5_Silent_p.I217I			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	217					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGAGGGAATGGATGAGGTGTG	0.433000													13	35					0	0	0.003163	0	0
STAB2	55576	broad.mit.edu	37	12	103988252	103988252	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:103988252C>T	ENST00000388887.2	+	3	499	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	99					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTCCAACCTCGGTGTTGTCC	0.493000													21	100					0	0	0.002299	0	0
SEC16A	9919	broad.mit.edu	37	9	139371758	139371758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:139371758G>A	ENST00000313050.7	-	1	383	c.310C>T	c.(310-312)Cag>Tag	p.Q104*		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2068					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGGGTCCCTGAGAGCTATCT	0.592000													11	93					0	0	0.000673	0	0
SYT9	143425	broad.mit.edu	37	11	7437333	7437333	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:7437333C>A	ENST00000318881.6	+	4	1342	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGCTGGCAGGCTGACCATTAC	0.433000													22	46					1.10923e-09	2.45856e-09	0.002780	1	0
AP1G2	8906	broad.mit.edu	37	14	24034829	24034829	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:24034829C>T	ENST00000308724.5	-	6	1482	c.727G>A	c.(727-729)Gac>Aac	p.D243N	AP1G2_ENST00000397120.3_Missense_Mutation_p.D243N|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	243					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGGAAGGGGTCGCTGACTCCA	0.557000													9	22					0	0	0.000978	0	0
DMXL1	1657	broad.mit.edu	37	5	118469789	118469789	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:118469789G>C	ENST00000311085.8	+	12	2250	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E724Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	724										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGGAGTTTCTGAGCTTGCCCG	0.463000													15	105					0	0	0.004007	0	0
DDX26B	203522	broad.mit.edu	37	X	134681181	134681181	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:134681181A>G	ENST00000370752.4	+	6	1067	c.733A>G	c.(733-735)Att>Gtt	p.I245V	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	245										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTCCTATTGGAGAAGG	0.308000													8	133					0	0	0.004482	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947762	57947762	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57947762C>A	ENST00000335397.3	+	3	1162	c.846C>A	c.(844-846)ccC>ccA	p.P282P		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AGGTCATCCCCATGTTGAATC	0.458000													27	61					1.2476e-16	3.01317e-16	0.001061	1	0
DST	667	broad.mit.edu	37	6	56484118	56484118	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56484118G>A	ENST00000370765.6	-	23	4821	c.4714C>T	c.(4714-4716)Cta>Tta	p.L1572L	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5251					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)			TTTTGTTTTAGCATCTCTGCA	0.328000													9	105					0	0	0.000673	0	0
KPNA4	3840	broad.mit.edu	37	3	160243624	160243624	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:160243624T>A	ENST00000334256.4	-	10	1040	c.735A>T	c.(733-735)ccA>ccT	p.P245P		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	245					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CACAAAGGGCTGGAAGAATCT	0.264000													4	19					0	0	0.001168	0	0
CRELD1	78987	broad.mit.edu	37	3	9985648	9985648	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:9985648C>T	ENST00000326434.5	+	11	1195	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	CRELD1_ENST00000397170.3_Intron|CRELD1_ENST00000452070.1_Intron|CRELD1_ENST00000489674.1_Intron|CRELD1_ENST00000383811.3_Intron	NM_001031717.3	NP_001026887.1	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	0					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						gttgggttctcatccccactc	0.468000													5	80					0	0	0.000602	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142667	49142667	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:49142667G>C	ENST00000055335.6	+	4	1531	c.1515G>C	c.(1513-1515)gcG>gcC	p.A505A	PPP1R3F_ENST00000466508.1_Silent_p.A159A|PPP1R3F_ENST00000438316.1_Silent_p.A176A|PPP1R3F_ENST00000495799.1_Silent_p.A159A|PPP1R3F_ENST00000376188.1_Silent_p.A159A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	505						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGTGGCTGCGGGTGGGGCAG	0.657000													7	18					0	0	0.004482	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983035	92983035	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:92983035G>C	ENST00000523629.1	-	11	1844	c.1390C>G	c.(1390-1392)Ctg>Gtg	p.L464V	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L427V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L464V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L475V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L427V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L437V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L427V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L437V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	464					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTTCTGCAGCTCCGTCATC	0.597000													3	49					0	0	0.004672	0	0
RASGRP3	25780	broad.mit.edu	37	2	33752432	33752432	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:33752432G>A	ENST00000403687.3	+	10	1776	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RASGRP3_ENST00000407811.1_Missense_Mutation_p.A346T|RASGRP3_ENST00000402538.3_Missense_Mutation_p.A346T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	346	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCTGCAGAATGCCTCTCACCA	0.468000													9	29					0	0	0.004482	0	0
CTNND2	1501	broad.mit.edu	37	5	11018126	11018126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:11018126C>T	ENST00000304623.8	-	18	3233	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N	CTNND2_ENST00000458100.2_Missense_Mutation_p.S582N|CTNND2_ENST00000359640.2_Missense_Mutation_p.S957N|CTNND2_ENST00000511377.1_Missense_Mutation_p.S924N|CTNND2_ENST00000503622.1_Missense_Mutation_p.S678N|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1015					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						CTGCCACATGCTGTTGAGGAC	0.517000													7	82					0	0	0.001984	0	0
IRS4	8471	broad.mit.edu	37	X	107978169	107978169	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107978169C>A	ENST00000372129.2	-	1	1482	c.1406G>T	c.(1405-1407)gGg>gTg	p.G469V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	469						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						GCCTTCCTCCCCAAAGTTGCC	0.582000													14	119					1.5842e-08	3.41618e-08	0.001855	1	0
GP2	2813	broad.mit.edu	37	16	20329553	20329553	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:20329553T>G	ENST00000302555.5	-	7	1356	c.1207A>C	c.(1207-1209)Act>Cct	p.T403P	GP2_ENST00000381360.5_Missense_Mutation_p.T259P|GP2_ENST00000341642.5_Missense_Mutation_p.T256P|GP2_ENST00000381362.4_Missense_Mutation_p.T406P			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	406	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGTCTTCAGTGGGGGTGGCA	0.468000													7	48					0	0	0.001984	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043106	74043106	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:74043106C>T	ENST00000358602.4	-	2	654	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E67K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E180K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	180					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)			CCTGCAGCTTCTAGTAAAGCT	0.398000													7	73					0	0	0.001984	0	0
KCNA5	3741	broad.mit.edu	37	12	5154004	5154004	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:5154004G>A	ENST00000252321.3	+	1	920	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	231						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCCCGCAACGAGTTCCAGCG	0.602000													17	101					0	0	0.000743	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685492	128685492	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:128685492G>A	ENST00000281154.4	+	3	623	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	152					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GCCCGAACCCGATTAGGTGTC	0.398000													7	40					0	0	0.001984	0	0
DNAH1	25981	broad.mit.edu	37	3	52404172	52404172	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:52404172C>T	ENST00000420323.2	+	39	6446	c.6185C>T	c.(6184-6186)tCa>tTa	p.S2062L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2062					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2063delT(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGATCGCCTCAACCAACTGC	0.577000													4	30					0	0	0.000248	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965672	88965672	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:88965672G>C	ENST00000333190.4	+	4	3985	c.3376G>C	c.(3376-3378)Gac>Cac	p.D1126H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1126						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCAGAAACCTGACAAAGTCGA	0.338000										HNSCC(36;0.09)			7	82					0	0	0.003080	0	0
FAM47A	158724	broad.mit.edu	37	X	34149176	34149176	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:34149176C>G	ENST00000346193.3	-	1	1271	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	407										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGCACACTCCAGTCTTGGG	0.567000													16	75					0	0	0.003163	0	0
HIP1	3092	broad.mit.edu	37	7	75189091	75189091	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:75189091G>A	ENST00000336926.6	-	14	1346	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	HIP1_ENST00000434438.2_Silent_p.L440L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	440	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGCCTCCTGAGCTCGTCCA	0.697000			T	PDGFRB	CMML								15	72					0	0	0.000958	0	0
NGFRAP1	27018	broad.mit.edu	37	X	102632528	102632528	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:102632528C>A	ENST00000361298.4	+	3	444	c.79C>A	c.(79-81)Cgg>Agg	p.R27R	NGFRAP1_ENST00000372635.1_Silent_p.R37R|NGFRAP1_ENST00000372634.1_Silent_p.R27R|NGFRAP1_ENST00000372645.3_Silent_p.R37R|NGFRAP1_ENST00000299872.7_Silent_p.R37R	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	37					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGAAATCGACGGGGACAGGC	0.522000													14	193					1.05317e-09	2.33726e-09	0.002450	1	0
PUM1	9698	broad.mit.edu	37	1	31414879	31414879	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:31414879T>A	ENST00000373747.3	-	19	3188	c.3089A>T	c.(3088-3090)gAg>gTg	p.E1030V	PUM1_ENST00000373741.4_Missense_Mutation_p.E1065V|PUM1_ENST00000373742.2_Missense_Mutation_p.E968V|PUM1_ENST00000440538.2_Missense_Mutation_p.E1003V|PUM1_ENST00000257075.5_Missense_Mutation_p.E1027V|PUM1_ENST00000426105.2_Missense_Mutation_p.E1029V|PUM1_ENST00000424085.2_Missense_Mutation_p.E785V|PUM1_ENST00000423018.2_Missense_Mutation_p.E885V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1027	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTGAAGCTCCTCTAAAATAGG	0.517000													27	117					0	0	0.001061	0	0
FMO4	2329	broad.mit.edu	37	1	171293343	171293343	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:171293343G>A	ENST00000367749.3	+	5	718	c.388G>A	c.(388-390)Gag>Aag	p.E130K	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	130					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTTGTCACAGAGACAGAGGG	0.458000													33	401					0	0	0.002096	0	0
TAOK1	57551	broad.mit.edu	37	17	27829692	27829692	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:27829692C>G	ENST00000261716.3	+	13	1808	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.S430*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	430					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CGTCACAAATCACACTATCGT	0.393000													7	41					0	0	0.003080	0	0
NLRP12	91662	broad.mit.edu	37	19	54313208	54313208	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54313208C>T	ENST00000324134.6	-	3	1873	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	NLRP12_ENST00000345770.5_Missense_Mutation_p.E569K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E569K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E569K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E569K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E569K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E569K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E569K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	569					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGTCTCCTCGTTCAGGAGT	0.572000													25	72					0	0	0.004656	0	0
WDR12	55759	broad.mit.edu	37	2	203748374	203748374	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:203748374G>A	ENST00000261015.3	-	11	1828	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	360	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TAAAGATCCTGAAATCAGCTG	0.378000													6	38					0	0	0.001984	0	0
PMFBP1	83449	broad.mit.edu	37	16	72158692	72158692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:72158692C>A	ENST00000537465.1	-	17	2736	c.2578G>T	c.(2578-2580)Gag>Tag	p.E860*	PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E855*|PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.E21*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E710*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	860								p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGGAGGTTCTCTTTTAAGGCG	0.567000											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	138					8.00594e-06	1.62815e-05	0.000958	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129039981	129039981	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:129039981C>T	ENST00000274487.4	+	21	3336	c.3191C>T	c.(3190-3192)aCc>aTc	p.T1064I	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1064	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTTAGATGTACCAACCCAAGA	0.448000													9	102					0	0	0.000673	0	0
ACKR4	51554	broad.mit.edu	37	3	132320167	132320167	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:132320167C>G	ENST00000249887.2	+	2	1022	c.926C>G	c.(925-927)tCt>tGt	p.S309C	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		ATGGGAGCATCTTTCAAAAAC	0.443000													7	93					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152278665	152278665	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152278665T>C	ENST00000368799.1	-	3	8732	c.8697A>G	c.(8695-8697)ggA>ggG	p.G2899G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2899	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGAATGTCCCTCACTGT	0.567000									Ichthyosis				12	484					0	0	0.004990	0	0
ALMS1	7840	broad.mit.edu	37	2	73718601	73718601	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:73718601A>G	ENST00000264448.6	+	10	9623	c.9512A>G	c.(9511-9513)gAg>gGg	p.E3171G	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3129G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3171					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						TCCAATCCAGAGGGGACCCCA	0.413000													3	57					0	0	0.004672	0	0
PDIA5	10954	broad.mit.edu	37	3	122842957	122842957	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122842957C>T	ENST00000316218.7	+	9	749	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	218	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)		TTGAAAACATCAAGGAGGAGT	0.557000													17	62					0	0	0.004007	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27788028	27788028	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:27788028G>C	ENST00000318304.8	+	4	533	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	PPFIBP1_ENST00000535047.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E84Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	84					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AACGCTTGTTGAATGGCTTCA	0.408000													17	59					0	0	0.000743	0	0
TOX2	84969	broad.mit.edu	37	20	42635314	42635314	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:42635314G>T	ENST00000358131.5	+	3	528	c.320G>T	c.(319-321)gGc>gTc	p.G107V	TOX2_ENST00000423191.1_Missense_Mutation_p.G56V|TOX2_ENST00000341197.3_Missense_Mutation_p.G98V|TOX2_ENST00000372999.1_Missense_Mutation_p.G56V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	107	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTGCCACGGCCTCACCCCC	0.622000													12	66					4.36969e-10	9.75935e-10	0.001855	1	0
CLEC17A	388512	broad.mit.edu	37	19	14710934	14710934	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:14710934C>T	ENST00000547437.1	+	12	911	c.834C>T	c.(832-834)gcC>gcT	p.A278A	CLEC17A_ENST00000397439.2_Silent_p.A261A|CLEC17A_ENST00000417570.1_Silent_p.A278A	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	278	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GGGATGAGGCCCGGATGTTCT	0.527000													8	51					0	0	0.003080	0	0
BEST3	144453	broad.mit.edu	37	12	70049561	70049561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:70049561C>T	ENST00000330891.5	-	10	1359	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	BEST3_ENST00000488961.1_Nonsense_Mutation_p.W165*|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Nonsense_Mutation_p.W272*	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	378						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCCCACAGCCACTCCTCGTC	0.552000													30	90					0	0	0.002445	0	0
C9	735	broad.mit.edu	37	5	39341354	39341354	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:39341354C>T	ENST00000263408.4	-	4	465	c.370G>A	c.(370-372)Gac>Aac	p.D124N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	124	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTCCGCAGTCATTGTCACCA	0.463000													10	74					0	0	0.000978	0	0
OR6B1	135946	broad.mit.edu	37	7	143701434	143701434	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:143701434G>C	ENST00000408922.2	+	1	413	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GTGTGCTTCTGGCCGCCATGG	0.498000													29	58					0	0	0.001512	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692545	38692545	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38692545G>C	ENST00000222345.6	+	20	5537	c.5028G>C	c.(5026-5028)ctG>ctC	p.L1676L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1676					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCGGCCCTGAGCCCGGACA	0.657000													4	53					0	0	0.000248	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871289	8871289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:8871289C>G	ENST00000256707.3	-	30	5058	c.4877G>C	c.(4876-4878)cGg>cCg	p.R1626P	KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1527P|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1607P|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1607P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1626					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGATTCCCCGCTTTCCGCT	0.483000													8	45					0	0	0.004482	0	0
GCLM	2730	broad.mit.edu	37	1	94354598	94354598	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:94354598C>T	ENST00000370238.3	-	7	1019	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	258					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTTGATAATTCCTCTACTTTT	0.413000													5	65					0	0	0.001168	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912810	130912810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:130912810C>A	ENST00000261655.4	-	12	2438	c.2275G>T	c.(2275-2277)Gag>Tag	p.E759*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	759						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCTCGTCCTCCTCCATGATG	0.612000													11	57					9.70103e-10	2.15565e-09	0.000673	1	0
NHSL2	340527	broad.mit.edu	37	X	71359607	71359607	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:71359607C>A	ENST00000373677.1	+	2	2373	c.1111C>A	c.(1111-1113)Cct>Act	p.P371T	NHSL2_ENST00000540800.1_Missense_Mutation_p.P737T|NHSL2_ENST00000510661.1_Missense_Mutation_p.P506T|NHSL2_ENST00000535692.1_Missense_Mutation_p.P371T			F5H593	F5H593_HUMAN	NHS-like 2	737										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACTTACCCCCTCCAAGCAG	0.577000													6	63					8.12818e-05	0.000160275	0.001984	1	0
KCNH5	27133	broad.mit.edu	37	14	63511873	63511873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:63511873G>A	ENST00000322893.7	-	1	300	c.32C>T	c.(31-33)cCg>cTg	p.P11L	KCNH5_ENST00000420622.2_Missense_Mutation_p.P11L|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	11					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGTTCTGCGGTGCCACCAG	0.647000													7	61					0	0	0.001984	0	0
KRR1	11103	broad.mit.edu	37	12	75895584	75895584	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:75895584C>T	ENST00000229214.4	-	9	945	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KRR1_ENST00000438169.2_Missense_Mutation_p.E251K|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	308	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTGATGGCTTCTGCTTGTTTA	0.303000													6	29					0	0	0.001984	0	0
ALDOB	229	broad.mit.edu	37	9	104187801	104187801	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:104187801T>A	ENST00000374855.4	-	7	857	c.733A>T	c.(733-735)Act>Tct	p.T245S		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	245					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGTTCTGGAGTATACTTCTTG	0.507000													22	78					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9083129	9083129	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9083129C>T	ENST00000397910.4	-	1	8889	c.8686G>A	c.(8686-8688)Gag>Aag	p.E2896K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2897	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						CTTGGGACCTCAGAAAACTCA	0.507000													5	25					0	0	0.000602	0	0
NLGN1	22871	broad.mit.edu	37	3	173998723	173998723	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173998723A>C	ENST00000457714.1	+	7	2531	c.2102A>C	c.(2101-2103)aAg>aCg	p.K701T	NLGN1_ENST00000545397.1_Missense_Mutation_p.K701T|NLGN1_ENST00000361589.4_Missense_Mutation_p.K701T|NLGN1_ENST00000401917.3_Missense_Mutation_p.K741T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	718					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTACAAAAAGGATAAGAGG	0.468000													20	78					0	0	0.001216	0	0
DVL2	1856	broad.mit.edu	37	17	7131012	7131012	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:7131012G>A	ENST00000005340.5	-	11	1475	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	DVL2_ENST00000575458.1_Missense_Mutation_p.S392F	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	398					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGTGCTCATGGAGGAGGAACC	0.597000													5	17					0	0	0.000602	0	0
CSMD3	114788	broad.mit.edu	37	8	113562955	113562955	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:113562955G>T	ENST00000297405.5	-	27	4753	c.4509C>A	c.(4507-4509)atC>atA	p.I1503I	CSMD3_ENST00000352409.3_Silent_p.I1503I|CSMD3_ENST00000343508.3_Silent_p.I1463I|CSMD3_ENST00000455883.2_Silent_p.I1399I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1503	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCAAACTGGATGGTTACTA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	75					5.4927e-09	1.19179e-08	0.004482	1	0
NAV3	89795	broad.mit.edu	37	12	78562546	78562546	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:78562546T>A	ENST00000397909.2	+	24	5054	c.4881T>A	c.(4879-4881)ctT>ctA	p.L1627L	NAV3_ENST00000228327.6_Silent_p.L1627L|NAV3_ENST00000266692.7_Silent_p.L1450L|NAV3_ENST00000536525.2_Silent_p.L1627L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1627						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATCTGAACTTATAGAACTAA	0.408000										HNSCC(70;0.22)			24	93					0	0	0.003954	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004978	153004978	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:153004978G>A	ENST00000307098.4	+	2	222	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	SPRR1B_ENST00000392661.3_Splice_Site	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	53	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAAAGTGCCCGAGCC	0.632000													19	177					0	0	0.001216	0	0
FLT4	2324	broad.mit.edu	37	5	180046692	180046692	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:180046692C>G	ENST00000261937.6	-	18	2698	c.2620G>C	c.(2620-2622)Gac>Cac	p.D874H	FLT4_ENST00000393347.3_Missense_Mutation_p.D874H|FLT4_ENST00000502649.1_Missense_Mutation_p.D874H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	874	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCACGGTGTCACAGCTGCTG	0.677000													5	125					0	0	0.001168	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7999954	7999954	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:7999954C>T	ENST00000377507.3	-	2	267		c.e2+1			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTACTCACCAGCTGGGCA	0.453000													21	48					0	0	0.001523	0	0
EYA1	2138	broad.mit.edu	37	8	72127676	72127676	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:72127676A>G	ENST00000340726.3	-	16	2182	c.1543T>C	c.(1543-1545)Tat>Cat	p.Y515H	EYA1_ENST00000388740.3_Missense_Mutation_p.Y482H|EYA1_ENST00000388741.2_Missense_Mutation_p.Y481H|EYA1_ENST00000419131.1_Missense_Mutation_p.Y480H|EYA1_ENST00000303824.7_Missense_Mutation_p.Y509H|EYA1_ENST00000388743.2_Missense_Mutation_p.Y514H|EYA1_ENST00000388742.4_Missense_Mutation_p.Y515H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	515					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCTAACCCATACAGCAGGACT	0.348000													42	68					0	0	0.001485	0	0
PABPC3	5042	broad.mit.edu	37	13	25671507	25671507	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:25671507G>A	ENST00000281589.3	+	1	1208	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	391					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTGTACGAGCTGTGCCCAA	0.507000													21	99					0	0	0.001882	0	0
NUF2	83540	broad.mit.edu	37	1	163317670	163317670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:163317670C>A	ENST00000271452.3	+	12	1345	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K	NUF2_ENST00000524800.1_Missense_Mutation_p.Q309K|NUF2_ENST00000367900.3_Missense_Mutation_p.Q356K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	356	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGCCACAGCACAATTCAAAAT	0.323000													5	19					0.000602214	0.0011626	0.000602	1	0
KNG1	3827	broad.mit.edu	37	3	186450368	186450368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:186450368G>T	ENST00000265023.4	+	7	1047	c.835G>T	c.(835-837)Gag>Tag	p.E279*	KNG1_ENST00000447445.1_Nonsense_Mutation_p.E243*|KNG1_ENST00000287611.2_Nonsense_Mutation_p.E279*|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	279	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCCAGAGCTGGAGGAGACACT	0.448000													6	145					2.0095e-06	4.13957e-06	0.001984	1	0
METTL17	64745	broad.mit.edu	37	14	21464897	21464897	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:21464897G>C	ENST00000382985.4	+	13	1315	c.1292G>C	c.(1291-1293)tGg>tCg	p.W431S	METTL17_ENST00000556670.2_Intron|METTL17_ENST00000339374.6_Intron|RP11-84C10.4_ENST00000557335.1_RNA			Q9H7H0	MET17_HUMAN	methyltransferase like 17	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAAAATCAGTGGGATGTGGCA	0.572000													17	102					0	0	0.001216	0	0
FAM122C	159091	broad.mit.edu	37	X	133979247	133979247	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:133979247G>A	ENST00000445123.1	+	6	1300	c.4G>A	c.(4-6)Gat>Aat	p.D2N	FAM122C_ENST00000370784.4_Missense_Mutation_p.D87N|FAM122C_ENST00000370785.3_Missense_Mutation_p.D87N			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	87										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCCATGGATTTAATAAA	0.284000													17	145					0	0	0.001882	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202400908	202400908	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:202400908T>G	ENST00000439140.1	-	13	1386	c.1342A>C	c.(1342-1344)Att>Ctt	p.I448L	ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.I448L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.I448L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	448										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGGTTAGAAATAGTGCACAAT	0.383000													21	113					0	0	0.001882	0	0
PLG	5340	broad.mit.edu	37	6	161127476	161127476	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:161127476G>C	ENST00000308192.9	+	2	150	c.87G>C	c.(85-87)caG>caC	p.Q29H	PLG_ENST00000366924.2_Missense_Mutation_p.Q29H|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	29	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGAATACCCAGGGGGCTTCAC	0.458000													22	105					0	0	0.001523	0	0
PSD2	84249	broad.mit.edu	37	5	139189229	139189229	+	Missense_Mutation	SNP	C	C	G	rs34206173	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:139189229C>G	ENST00000274710.3	+	2	409	c.204C>G	c.(202-204)ttC>ttG	p.F68L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	68					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGCCTTCCATGGCCTCA	0.637000													12	67					0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32037926	32037926	+	Silent	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:32037926A>C	ENST00000375244.3	-	14	5457	c.5256T>G	c.(5254-5256)ccT>ccG	p.P1752P	TNXB_ENST00000375247.2_Silent_p.P1752P			P22105	TENX_HUMAN	tenascin XB	1834					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCAGTGAGAGGGCCATGGC	0.642000													9	19					0	0	0.004482	0	0
CYB5B	80777	broad.mit.edu	37	16	69458700	69458700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:69458700G>C	ENST00000512062.1	+	1	273	c.102G>C	c.(100-102)ttG>ttC	p.L34F	CYB5B_ENST00000307892.8_Missense_Mutation_p.L38F|CYB5B_ENST00000561792.1_Missense_Mutation_p.L34F|CYB5B_ENST00000515314.1_Missense_Mutation_p.L34F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	34	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCAACTCCTTGAAGGAACTGT	0.607000													4	54					0	0	0.000602	0	0
PITPNA	5306	broad.mit.edu	37	17	1437393	1437393	+	Splice_Site	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:1437393T>C	ENST00000313486.7	-	10	1023	c.768_splice	c.e10+1	p.E256_splice	PITPNA_ENST00000539476.1_Splice_Site_p.E256_splice	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	256					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CCCCACTTACTTCATCCAGCT	0.502000													4	295					0	0	0.000602	0	0
OGT	8473	broad.mit.edu	37	X	70776893	70776893	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:70776893C>G	ENST00000373719.3	+	10	1475	c.1258C>G	c.(1258-1260)Cgt>Ggt	p.R420G	OGT_ENST00000373701.3_Missense_Mutation_p.R410G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	420					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTGTTATACGCGTGCCATCCA	0.408000													4	46					0	0	0.000602	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945761	46945761	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:46945761C>A	ENST00000311124.4	-	5	1415	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	SLC19A1_ENST00000380010.4_Silent_p.V421V|SLC19A1_ENST00000485649.2_Silent_p.V381V|SLC19A1_ENST00000567670.1_Silent_p.V421V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	421					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCAGGCCCCGCACGTCCGAGA	0.582000													20	59					4.35082e-09	9.52285e-09	0.001523	1	0
ABL2	27	broad.mit.edu	37	1	179084079	179084079	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:179084079C>T	ENST00000502732.1	-	9	1698	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	ABL2_ENST00000367623.4_Missense_Mutation_p.E478K|ABL2_ENST00000392043.3_Missense_Mutation_p.E478K|ABL2_ENST00000504405.1_Missense_Mutation_p.E463K|ABL2_ENST00000344730.3_Missense_Mutation_p.E484K|ABL2_ENST00000511413.1_Missense_Mutation_p.E499K|ABL2_ENST00000507173.1_Missense_Mutation_p.E478K|ABL2_ENST00000408940.3_Missense_Mutation_p.E463K|ABL2_ENST00000512653.1_Missense_Mutation_p.E484K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	499	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TATCCTTTTTCTAGTAGGTCA	0.408000			T	ETV6	AML								7	77					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123805604	123805604	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:123805604C>A	ENST00000422452.2	-	6	1160	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	TENM1_ENST00000371130.3_Missense_Mutation_p.R366M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCGGTCCCCCTGTTCCCTTT	0.438000													27	169					1.5548e-18	3.78119e-18	0.005443	1	0
LCP2	3937	broad.mit.edu	37	5	169714999	169714999	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:169714999G>C	ENST00000046794.5	-	3	778	c.163C>G	c.(163-165)Cag>Gag	p.Q55E		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	55	SAM.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGAACTTCTGGATGTCATTT	0.537000													11	31					0	0	0.000673	0	0
CLDN3	1365	broad.mit.edu	37	7	73184251	73184251	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:73184251C>T	ENST00000395145.2	-	1	349	c.129G>A	c.(127-129)caG>caA	p.Q43Q		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	43					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CCCAGATGTTCTGCGACGTGA	0.647000													5	49					0	0	0.000602	0	0
DDX46	9879	broad.mit.edu	37	5	134143458	134143458	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:134143458G>A	ENST00000452510.2	+	16	2133	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	DDX46_ENST00000354283.4_Missense_Mutation_p.D659N	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	659	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATATGACAGAGATAGCATCAT	0.373000													11	46					0	0	0.000978	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640191	176640191	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:176640191C>G	ENST00000367662.3	+	4	3241	c.2077C>G	c.(2077-2079)Cgg>Ggg	p.R693G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R693G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	693	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCTCAGTGCGGGAAGACCT	0.507000													63	148					0	0	0.003610	0	0
BEND2	139105	broad.mit.edu	37	X	18221663	18221663	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18221663G>T	ENST00000380033.4	-	5	997	c.865C>A	c.(865-867)Cca>Aca	p.P289T	BEND2_ENST00000380030.3_Missense_Mutation_p.P289T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	289										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCTCTACCTGGGCCCACATTT	0.418000													28	95					9.39395e-14	2.21981e-13	0.001061	1	0
DZIP1L	199221	broad.mit.edu	37	3	137803006	137803006	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:137803006G>C	ENST00000327532.2	-	8	1514	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	DZIP1L_ENST00000469243.1_Silent_p.L384L|DZIP1L_ENST00000488595.1_Intron	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	384						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTGGGCACGGAGGGTGCTGA	0.612000													5	91					0	0	0.001168	0	0
SMYD1	150572	broad.mit.edu	37	2	88402603	88402603	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:88402603G>C	ENST00000419482.2	+	7	1000	c.915G>C	c.(913-915)atG>atC	p.M305I	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.M292I	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGAAGGAGATGATACAATTCT	0.453000													4	46					0	0	0.000248	0	0
HSP90B1	7184	broad.mit.edu	37	12	104335647	104335647	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:104335647A>T	ENST00000299767.5	+	11	1528	c.1346A>T	c.(1345-1347)gAg>gTg	p.E449V		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	449					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTTTCCCGCGAGACTCTTCAG	0.453000													18	58					0	0	0.001216	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685234	125685234	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:125685234C>A	ENST00000371126.1	-	1	1600	c.1358G>T	c.(1357-1359)gGc>gTc	p.G453V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	453										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCATGGAGGCCTGCAGGGAG	0.557000													5	104					5.9392e-07	1.24248e-06	0.001168	1	0
TENM4	26011	broad.mit.edu	37	11	78413272	78413272	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:78413272G>T	ENST00000278550.7	-	28	4848	c.4386C>A	c.(4384-4386)gcC>gcA	p.A1462A		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TTGCGTGGATGGCCACCTTGC	0.552000													11	32					2.80697e-09	6.15916e-09	0.000978	1	0
SS18L1	26039	broad.mit.edu	37	20	60733801	60733801	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:60733801C>T	ENST00000331758.3	+	2	169	c.143C>T	c.(142-144)aCg>aTg	p.T48M	SS18L1_ENST00000421564.1_Missense_Mutation_p.T48M	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	48	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCCGAGTGCACGCAGTGAGTG	0.607000			T	SSX1	synovial sarcoma								9	86					0	0	0.000443	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910570	101910570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101910570G>A	ENST00000537097.1	+	6	2542	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	GPRASP1_ENST00000361600.5_Missense_Mutation_p.E577K|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E577K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E577K	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	577	Glu-rich.					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						AGCTGAAGAAGAGACAATATT	0.507000													22	157					0	0	0.001523	0	0
FRY	10129	broad.mit.edu	37	13	32813472	32813472	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:32813472G>A	ENST00000380250.3	+	45	6998	c.6502G>A	c.(6502-6504)Gaa>Aaa	p.E2168K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGATATAGCCGAAAGGATTGC	0.463000													6	58					0	0	0.001168	0	0
DIDO1	11083	broad.mit.edu	37	20	61511825	61511825	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:61511825G>A	ENST00000266070.4	-	16	5808	c.5483C>T	c.(5482-5484)cCc>cTc	p.P1828L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1828L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1828	Pro-rich.				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)					AAGGTAAGAGGGTGAGGGGCC	0.602000													19	75					0	0	0.001216	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774538	89774538	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:89774538C>A	ENST00000448984.1	+	8	1508	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	393	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GTCTCTTTACCACCTCCCCAC	0.418000													12	68					5.03518e-11	1.14205e-10	0.000958	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764245	140764245	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140764245G>C	ENST00000518325.1	+	1	1779	c.1779G>C	c.(1777-1779)gcG>gcC	p.A593A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAAAG	0.637000													23	104					0	0	0.003330	0	0
OR2B6	26212	broad.mit.edu	37	6	27925414	27925414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:27925414C>A	ENST00000244623.1	+	1	396	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTCCATTACTCAGTTATCA	0.493000													14	156					1.5842e-08	3.41618e-08	0.001855	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819143	159819143	+	RNA	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:159819143T>A	ENST00000497452.1	-	0	517																											GGCTACTCCATGATCATTAAA	0.348000													15	41					0	0	0.004007	0	0
VPS16	64601	broad.mit.edu	37	20	2842527	2842527	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:2842527T>G	ENST00000380445.3	+	10	1048	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	326					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CACCCACGAGTTCCTGCATGA	0.612000													10	19					0	0	0.000978	0	0
ITIH6	347365	broad.mit.edu	37	X	54785154	54785154	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:54785154G>T	ENST00000218436.6	-	8	1382	c.1353C>A	c.(1351-1353)cgC>cgA	p.R451R		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	451	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CCTCATATATGCGCCGGGCTA	0.572000													10	29					2.17888e-05	4.38027e-05	0.000443	1	0
ITPR1	3708	broad.mit.edu	37	3	4847887	4847887	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:4847887A>G	ENST00000354582.6	+	54	7513	c.7163A>G	c.(7162-7164)cAt>cGt	p.H2388R	ITPR1_ENST00000423119.2_Missense_Mutation_p.H2355R|ITPR1_ENST00000544951.1_Missense_Mutation_p.H366R|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.H2340R|ITPR1_ENST00000443694.2_Missense_Mutation_p.H2388R|ITPR1_ENST00000357086.4_Missense_Mutation_p.H2355R|ITPR1_ENST00000302640.8_Missense_Mutation_p.H2388R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2403					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCCTCTATCATTTGTTGTAT	0.443000													22	35					0	0	0.002780	0	0
C2orf71	388939	broad.mit.edu	37	2	29296154	29296154	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:29296154A>G	ENST00000331664.5	-	1	973	c.974T>C	c.(973-975)cTg>cCg	p.L325P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	325					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TAGCTGCCTCAGAGCCCTCAG	0.577000													20	89					0	0	0.001216	0	0
CNKSR3	154043	broad.mit.edu	37	6	154763316	154763316	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:154763316C>T	ENST00000607772.1	-	3	869	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D29N	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	109	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGTTGCCATCGTAAGCGGGA	0.542000													6	45					0	0	0.001984	0	0
ITGB6	3694	broad.mit.edu	37	2	160994114	160994114	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:160994114C>G	ENST00000283249.2	-	10	1728	c.1491G>C	c.(1489-1491)ctG>ctC	p.L497L	ITGB6_ENST00000428609.2_Silent_p.L455L|ITGB6_ENST00000409872.1_Silent_p.L497L|ITGB6_ENST00000409967.2_Silent_p.L497L			P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCTGTGCTCAGCATGTCCT	0.602000													4	55					0	0	0.000248	0	0
ZNF285	26974	broad.mit.edu	37	19	44892232	44892232	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44892232G>T	ENST00000330997.4	-	4	239	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	ZNF285_ENST00000591679.1_Missense_Mutation_p.Q66K|ZNF285_ENST00000544719.2_Missense_Mutation_p.Q59K|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCCTTTGCCTGAAGATTCAAA	0.398000													11	72					6.40141e-05	0.000126941	0.000978	1	0
ABCC9	10060	broad.mit.edu	37	12	21970162	21970162	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:21970162C>A	ENST00000261200.4	-	31	3850	c.3851G>T	c.(3850-3852)aGt>aTt	p.S1284I	ABCC9_ENST00000261201.4_Missense_Mutation_p.S1284I|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1248I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1284					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTCAGGAAACTGTTCACCTT	0.368000													16	108					5.3912e-06	1.09767e-05	0.000743	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643946	37643946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:37643946C>A	ENST00000356958.4	-	5	1113	c.855G>T	c.(853-855)ttG>ttT	p.L285F	ZNF585A_ENST00000292841.5_Missense_Mutation_p.L230F|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.L230F|ZNF585A_ENST00000355533.2_Missense_Mutation_p.L230F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGTGCAATCAAATGGGTCT	0.433000													45	175					2.13384e-23	5.25507e-23	0.003610	1	0
ZIC4	84107	broad.mit.edu	37	3	147113922	147113922	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:147113922G>C	ENST00000383075.3	-	3	917	c.405C>G	c.(403-405)gcC>gcG	p.A135A	ZIC4_ENST00000473123.1_Silent_p.A135A|ZIC4_ENST00000525172.2_Silent_p.A185A|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Silent_p.A135A|ZIC4_ENST00000425731.3_Silent_p.A173A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	135						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGTGCCGTCGGCCGCCAGCC	0.657000													12	53					0	0	0.000978	0	0
ATXN7L1	222255	broad.mit.edu	37	7	105516849	105516849	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:105516849G>T	ENST00000419735.3	-	1	201	c.156C>A	c.(154-156)gaC>gaA	p.D52E	ATXN7L1_ENST00000478915.1_Missense_Mutation_p.D24E|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.D52E	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	52										endometrium(1)|large_intestine(4)|lung(5)	10						ATTTGGCGGCGTCGATCCAGG	0.527000													8	12					5.18039e-06	1.05844e-05	0.003080	1	0
GAS2L3	283431	broad.mit.edu	37	12	101017768	101017768	+	Silent	SNP	G	G	C	rs61748062	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:101017768G>C	ENST00000537247.1	+	10	1827	c.873G>C	c.(871-873)ccG>ccC	p.P291P	GAS2L3_ENST00000539410.1_Silent_p.P395P|GAS2L3_ENST00000266754.5_Silent_p.P395P|GAS2L3_ENST00000547754.1_Silent_p.P395P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	395					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAAGAAACCGCAGGCTCCTT	0.418000													28	87					0	0	0.005443	0	0
NUP214	8021	broad.mit.edu	37	9	134073548	134073548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073548C>G	ENST00000359428.5	+	29	4811	c.4667C>G	c.(4666-4668)tCt>tGt	p.S1556C	NUP214_ENST00000451030.1_Missense_Mutation_p.S1557C|NUP214_ENST00000483497.2_Missense_Mutation_p.S382C|NUP214_ENST00000411637.2_Missense_Mutation_p.S1546C			P35658	NU214_HUMAN	nucleoporin 214kDa	1556	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACTGCAGCATCTAGTACTAGT	0.557000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								10	65					0	0	0.000443	0	0
ACAN	176	broad.mit.edu	37	15	89414699	89414699	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:89414699G>A	ENST00000439576.2	+	14	7407	c.7033G>A	c.(7033-7035)Gag>Aag	p.E2345K	ACAN_ENST00000352105.7_Missense_Mutation_p.E2307K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2345K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2307K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2345					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTGGATGCTGAGCGCCGGTG	0.637000													5	32					0	0	0.000602	0	0
PARS2	25973	broad.mit.edu	37	1	55224789	55224789	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:55224789T>A	ENST00000371279.3	-	2	128	c.46A>T	c.(46-48)Acc>Tcc	p.T16S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	16					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CGGCTGCAGGTGGCCAGGGCG	0.597000													5	25					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167159754	167159754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:167159754C>A	ENST00000303354.6	-	7	1090	c.750G>T	c.(748-750)atG>atT	p.M250I	SCN9A_ENST00000409435.1_Missense_Mutation_p.M249I|SCN9A_ENST00000409672.1_Missense_Mutation_p.M249I|SCN9A_ENST00000375387.4_Missense_Mutation_p.M250I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	249						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGTCAGGATCATGACATCAG	0.393000													6	30					0.00198382	0.00375531	0.001984	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702830	40702830	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:40702830C>G	ENST00000356699.5	+	4	516	c.487C>G	c.(487-489)Cag>Gag	p.Q163E	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		CAAGCATCCTCAGGATCTGGC	0.587000													9	385					0	0	0.000673	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467409	25467409	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:25467409C>A	ENST00000264709.3	-	14	2004	c.1667_splice	c.e14+1	p.R556_splice	DNMT3A_ENST00000402667.1_Splice_Site_p.R333_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R556_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.R367_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	556	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGCCTCACCTGCAGCAGTT	0.652000			"""Mis, F, N, S"""		AML								8	41					1.12685e-05	2.26795e-05	0.004482	1	0
OR5H1	26341	broad.mit.edu	37	3	97852332	97852332	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97852332C>G	ENST00000354565.2	+	1	791	c.791C>G	c.(790-792)tCt>tGt	p.S264C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGCCCTGCATCTCCGCAAGCA	0.433000													13	110					0	0	0.001855	0	0
LRCH4	4034	broad.mit.edu	37	7	100175789	100175789	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100175789C>G	ENST00000310300.6	-	7	993	c.941G>C	c.(940-942)gGa>gCa	p.G314A	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	314					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACCTCATTTCCAGACCACCT	0.592000													21	35					0	0	0.001523	0	0
TOX	9760	broad.mit.edu	37	8	59872534	59872534	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:59872534C>G	ENST00000361421.1	-	2	356	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	46						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGCTCGGCTCTGTCATGCTC	0.388000													3	55					0	0	0.004672	0	0
CNTN3	5067	broad.mit.edu	37	3	74350577	74350577	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:74350577G>A	ENST00000263665.6	-	15	2094	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	689	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTTTCTGAGGGTAAACTTG	0.413000													14	61					0	0	0.002450	0	0
OR7D2	162998	broad.mit.edu	37	19	9297146	9297146	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9297146C>G	ENST00000344248.2	+	1	868	c.689C>G	c.(688-690)tCa>tGa	p.S230*		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	230					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						AAGATGTCCTCATCTGGGGGA	0.463000													8	58					0	0	0.003080	0	0
OR4S2	219431	broad.mit.edu	37	11	55419152	55419152	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55419152G>T	ENST00000312422.2	+	1	773	c.773G>T	c.(772-774)cGc>cTc	p.R258L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATGTACATGCGCCCTGATACG	0.463000													29	157					5.61819e-17	1.35876e-16	0.005443	1	0
ABTB1	80325	broad.mit.edu	37	3	127395201	127395201	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:127395201G>A	ENST00000232744.8	+	5	493	c.407G>A	c.(406-408)cGt>cAt	p.R136H	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	136	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGGGTGCACGTAGTGCCTAC	0.582000													7	125					0	0	0.003080	0	0
KMT2D	8085	broad.mit.edu	37	12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:49434307G>A	ENST00000301067.7	-	31	7245	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GACTGGGACTGAGGACTGGCA	0.647000													5	33					0	0	0.000602	0	0
CRTC2	200186	broad.mit.edu	37	1	153926054	153926054	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:153926054C>G	ENST00000368633.1	-	5	590	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	155					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCCCTTCTCTGCAGGGAAA	0.517000													4	40					0	0	0.000248	0	0
CTSC	1075	broad.mit.edu	37	11	88027277	88027277	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:88027277C>A	ENST00000227266.5	-	7	1403	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	430					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAGCCGGTGCCCCAGCTGTT	0.507000													10	63					3.07112e-06	6.30425e-06	0.000978	1	0
PNPLA3	80339	broad.mit.edu	37	22	44340664	44340664	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:44340664C>T	ENST00000216180.3	+	8	1379	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PNPLA3_ENST00000423180.2_Silent_p.L398L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	402					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGTGTCTGCTCCCCGCCTCCA	0.567000													6	90					0	0	0.001168	0	0
PDS5B	23047	broad.mit.edu	37	13	33271024	33271024	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:33271024G>T	ENST00000315596.10	+	15	1771	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	529					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATTTTCAAAAGTGATGGTTAT	0.259000													18	54					2.21704e-12	5.14176e-12	0.002780	1	0
NIPBL	25836	broad.mit.edu	37	5	37003451	37003451	+	Splice_Site	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:37003451T>C	ENST00000282516.8	+	16	4354		c.e16+2		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						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)			TTAAATCATGTAAGTTTAAGA	0.318000													15	98					0	0	0.002450	0	0
OR14K1	343170	broad.mit.edu	37	1	247902360	247902360	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:247902360C>T	ENST00000283225.2	+	1	444	c.444C>T	c.(442-444)ctC>ctT	p.L148L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGTCCTGGCTCAACAGAGGGG	0.537000													9	110					0	0	0.004482	0	0
PTPRB	5787	broad.mit.edu	37	12	70954649	70954649	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:70954649A>T	ENST00000334414.6	-	17	4278	c.4234T>A	c.(4234-4236)Tgg>Agg	p.W1412R	PTPRB_ENST00000550857.1_Missense_Mutation_p.W1104R|PTPRB_ENST00000538708.1_Missense_Mutation_p.W1104R|PTPRB_ENST00000451516.2_Missense_Mutation_p.W1104R|PTPRB_ENST00000261266.5_Missense_Mutation_p.W1194R|PTPRB_ENST00000551525.1_Missense_Mutation_p.W1411R|PTPRB_ENST00000550358.1_Missense_Mutation_p.W1324R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1194	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTGGACTCCAGTTGAACCAA	0.458000													16	88					0	0	0.000958	0	0
FAT4	79633	broad.mit.edu	37	4	126242430	126242430	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:126242430C>G	ENST00000394329.3	+	1	4877	c.4864C>G	c.(4864-4866)Cag>Gag	p.Q1622E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1622	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCATTCTTCAGGGCCTTGA	0.428000													16	106					0	0	0.004990	0	0
ATN1	1822	broad.mit.edu	37	12	7047658	7047658	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:7047658G>C	ENST00000356654.4	+	7	2769	c.2532G>C	c.(2530-2532)gaG>gaC	p.E844D	ATN1_ENST00000396684.2_Missense_Mutation_p.E844D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	844					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGCTCAGGAGGGCCGTGCTC	0.587000											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	31					0	0	0.000602	0	0
ATP1B1	481	broad.mit.edu	37	1	169094256	169094256	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:169094256A>G	ENST00000367816.1	+	4	890	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	ATP1B1_ENST00000367813.3_Missense_Mutation_p.M113V|ATP1B1_ENST00000499679.3_Missense_Mutation_p.M65V|ATP1B1_ENST00000367815.3_Missense_Mutation_p.M121V|ATP1B1_ENST00000494797.1_3'UTR			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	121					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GAGGGATGACATGATTTTTGA	0.373000													8	134					0	0	0.004482	0	0
CDH8	1006	broad.mit.edu	37	16	61851473	61851473	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:61851473T>C	ENST00000577390.1	-	7	2141	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	CDH8_ENST00000584337.1_Missense_Mutation_p.Y396C|CDH8_ENST00000299345.6_Missense_Mutation_p.Y396C|CDH8_ENST00000577730.1_Missense_Mutation_p.Y396C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	396	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTCAAGTAGGTAAGTCGGTGA	0.483000													9	39					0	0	0.000443	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635666	233635666	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:233635666G>A	ENST00000233826.3	-	2	546	c.407C>T	c.(406-408)gCc>gTc	p.A136V	GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.A136V|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	136						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GGCAAGTAAGGCGATTGCACT	0.413000													12	50					0	0	0.001368	0	0
ALMS1	7840	broad.mit.edu	37	2	73799886	73799886	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:73799886C>G	ENST00000264448.6	+	16	10990	c.10879C>G	c.(10879-10881)Cga>Gga	p.R3627G	ALMS1_ENST00000409009.1_Missense_Mutation_p.R3585G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3627					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						CTTGGTGGACCGACTTGATCG	0.468000													16	58					0	0	0.003163	0	0
SPNS3	201305	broad.mit.edu	37	17	4389751	4389751	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:4389751G>T	ENST00000355530.2	+	11	1603	c.1323G>T	c.(1321-1323)caG>caT	p.Q441H	SPNS3_ENST00000333476.2_Missense_Mutation_p.Q314H	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	441					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTATCTGCAGCGCTTCCGCA	0.662000													8	45					2.62144e-13	6.14477e-13	0.004482	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897759	72897759	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:72897759C>G	ENST00000308744.6	+	1	239	c.141C>G	c.(139-141)agC>agG	p.S47R	NPFFR2_ENST00000344413.5_Missense_Mutation_p.S47R	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	47					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGAGCGGAAGCCTGGAGTGGA	0.662000													7	36					0	0	0.001984	0	0
WDR52	55779	broad.mit.edu	37	3	113085109	113085109	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:113085109C>A	ENST00000393845.2	-	19	2558	c.2492G>T	c.(2491-2493)cGa>cTa	p.R831L	WDR52_ENST00000295868.2_Missense_Mutation_p.R831L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	831										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GACATAGACTCGAATTGCTCC	0.308000													10	30					0.000442599	0.000856344	0.000443	1	0
ZNF827	152485	broad.mit.edu	37	4	146806946	146806946	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:146806946G>A	ENST00000508784.1	-	4	1858	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	ZNF827_ENST00000379448.4_Missense_Mutation_p.P544L|ZNF827_ENST00000513320.1_Missense_Mutation_p.P194L			Q17R98	ZN827_HUMAN	zinc finger protein 827	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTGGTTGGCGGGCCTGTCGGC	0.557000													8	56					0	0	0.004482	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750532	167750532	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:167750532G>A	ENST00000470487.1	-	9	1641	c.952C>T	c.(952-954)Cca>Tca	p.P318S	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P290S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	318	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTGGCTCTGGGGGAGCCTGA	0.507000													58	101					0	0	0.003610	0	0
AVPR1A	552	broad.mit.edu	37	12	63543842	63543842	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:63543842C>A	ENST00000299178.2	-	1	880	c.775G>T	c.(775-777)Gca>Tca	p.A259S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	259					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTTGCTCTGCACCCTTGCTC	0.612000													23	96					1.96895e-08	4.23541e-08	0.002780	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													7	15					0	0	0.001984	0	0
OXR1	55074	broad.mit.edu	37	8	107763141	107763141	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:107763141A>G	ENST00000445937.1	+	16	2774	c.2513A>G	c.(2512-2514)cAa>cGa	p.Q838R	OXR1_ENST00000531443.1_Missense_Mutation_p.Q838R|OXR1_ENST00000449762.2_Missense_Mutation_p.Q208R|OXR1_ENST00000452423.2_Missense_Mutation_p.Q286R|OXR1_ENST00000297447.6_Missense_Mutation_p.Q235R|OXR1_ENST00000521592.1_Missense_Mutation_p.Q111R|OXR1_ENST00000442977.2_Missense_Mutation_p.Q866R|OXR1_ENST00000517566.2_Missense_Mutation_p.Q865R|OXR1_ENST00000312046.6_Missense_Mutation_p.Q831R	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	866	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTCTTTATCCAAGATATTGAA	0.388000													18	58					0	0	0.000958	0	0
CCDC108	255101	broad.mit.edu	37	2	219873820	219873820	+	Silent	SNP	G	G	A	rs149741043		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:219873820G>A	ENST00000341552.5	-	29	4706	c.4623C>T	c.(4621-4623)gaC>gaT	p.D1541D	CCDC108_ENST00000441968.1_Silent_p.D1541D|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.D1541D	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1541						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)		GCACCTTCTCGTCCTTCCACT	0.547000													17	57					0	0	0.000958	0	0
CSMD3	114788	broad.mit.edu	37	8	113243846	113243846	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:113243846C>T	ENST00000297405.5	-	69	11000	c.10756G>A	c.(10756-10758)Gat>Aat	p.D3586N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D3516N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3546N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D3417N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3586						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGCTCCATCAGGCTCAGCA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	122					0	0	0.000443	0	0
ITGA7	3679	broad.mit.edu	37	12	56094761	56094761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:56094761G>A	ENST00000257880.7	-	4	811	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	ITGA7_ENST00000452168.2_Nonsense_Mutation_p.Q101*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000257879.6_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000555728.1_Nonsense_Mutation_p.Q198*			Q13683	ITA7_HUMAN	integrin, alpha 7	198					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGCCCTGCTGGCAGAACCCA	0.592000													4	34					0	0	0.000248	0	0
MYOCD	93649	broad.mit.edu	37	17	12666815	12666815	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:12666815G>C	ENST00000425538.1	+	14	3015	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.E891Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	891					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAAACCATGGAGTGGCTGGA	0.552000													9	40					0	0	0.004482	0	0
CPEB4	80315	broad.mit.edu	37	5	173376544	173376544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:173376544C>G	ENST00000265085.5	+	6	2944	c.1490C>G	c.(1489-1491)cCt>cGt	p.P497R	CPEB4_ENST00000334035.5_Missense_Mutation_p.P480R|CPEB4_ENST00000522336.1_Missense_Mutation_p.P107R|CPEB4_ENST00000519835.1_Missense_Mutation_p.P472R|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.P472R|CPEB4_ENST00000517880.1_Missense_Mutation_p.P90R	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	497	RRM 1.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCTTTGGCCCTCTGATTGTG	0.308000													7	31					0	0	0.004482	0	0
MAD1L1	8379	broad.mit.edu	37	7	2259027	2259027	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2259027C>A	ENST00000406869.1	-	6	1093	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R179L|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R87L|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R179L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	179					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.R179Q(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCGCTTCACCCGCATCTCCTG	0.632000													6	14					2.0095e-06	4.13957e-06	0.001984	1	0
CHSY3	337876	broad.mit.edu	37	5	129520705	129520705	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:129520705C>G	ENST00000305031.4	+	3	2228	c.1870C>G	c.(1870-1872)Ctc>Gtc	p.L624V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	624						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGTACACATTCTCGTTCCTCT	0.348000													13	46					0	0	0.001855	0	0
PYGL	5836	broad.mit.edu	37	14	51375033	51375033	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:51375033C>A	ENST00000216392.7	-	19	2667	c.2335G>T	c.(2335-2337)Gaa>Taa	p.E779*	PYGL_ENST00000544180.2_Nonsense_Mutation_p.E745*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.E779*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	779					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACATAGGCTTCGTAGTCTGCA	0.303000													14	41					2.31682e-05	4.65224e-05	0.003163	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011308	105011308	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:105011308C>G	ENST00000372582.1	+	11	2471	c.1715C>G	c.(1714-1716)tCc>tGc	p.S572C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S572C|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.S177C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	572					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCTGGACTCCGCAGAACAA	0.438000													12	101					0	0	0.001855	0	0
GJA5	2702	broad.mit.edu	37	1	147230503	147230503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:147230503G>A	ENST00000271348.2	-	2	1005	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.P282S	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	282					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGCTGAAGGGATTGAAGAAT	0.542000													5	144					0	0	0.000602	0	0
GRM6	2916	broad.mit.edu	37	5	178416278	178416278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:178416278G>A	ENST00000231188.5	-	5	1319	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R381C	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	381					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GTGCATTTGCGGGTGGAATCG	0.617000													14	30					0	0	0.001855	0	0
OR7E47P	26628	broad.mit.edu	37	12	52501166	52501166	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:52501166C>T	ENST00000546390.1	+	0	565																											CTCCTAGAACCTCAGAGGATC	0.498000													3	6					0	0	0.004672	0	0
DUSP27	92235	broad.mit.edu	37	1	167095719	167095719	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:167095719C>T	ENST00000361200.2	+	6	1517	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	DUSP27_ENST00000271385.5_Silent_p.L451L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.L451L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	451					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CATCTGGGTCCTGAAGCAGCA	0.697000													5	8					0	0	0.000602	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226476	23226476	+	Missense_Mutation	SNP	G	G	A	rs143742457		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:23226476G>A	ENST00000300061.2	+	13	1779	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	546					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552000													12	54					0	0	0.000978	0	0
DACT3	147906	broad.mit.edu	37	19	47151869	47151869	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:47151869C>T	ENST00000391916.2	-	4	1833	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	DACT3_ENST00000300875.4_Missense_Mutation_p.G362E	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	587										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TGCTCCACCCCCAGAGGCCGC	0.652000													29	116					0	0	0.005443	0	0
DDX54	79039	broad.mit.edu	37	12	113614713	113614713	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:113614713C>A	ENST00000314045.7	-	7	711	c.684G>T	c.(682-684)gtG>gtT	p.V228V	DDX54_ENST00000306014.5_Silent_p.V228V	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	228	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCACATGCACCAACCGTC	0.592000													16	55					3.41278e-10	7.65145e-10	0.004990	1	0
ALDH2	217	broad.mit.edu	37	12	112229161	112229161	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:112229161G>T	ENST00000261733.2	+	7	794	c.733G>T	c.(733-735)Gct>Tct	p.A245S	ALDH2_ENST00000416293.3_Missense_Mutation_p.A198S|RP11-162P23.2_ENST00000546840.2_Silent_p.R241R	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	245					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TGGCCCCACGGCTGGGGCCGC	0.587000			T	HMGA2	leiomyoma								5	18					0.00307968	0.00578596	0.003080	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554222	140554222	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140554222G>T	ENST00000231137.3	+	1	1980	c.1806G>T	c.(1804-1806)ctG>ctT	p.L602L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		602	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCCTGGCTGTCGTACCAGC	0.726000													17	87					0.00121646	0.00232282	0.001216	1	0
ZNF213	7760	broad.mit.edu	37	16	3187533	3187533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3187533C>G	ENST00000396878.3	+	2	727	c.252C>G	c.(250-252)atC>atG	p.I84M	ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000576416.1_Missense_Mutation_p.I84M|ZNF213_ENST00000574902.1_Missense_Mutation_p.I84M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGAGCAGATCCTGGAGCTGC	0.662000													9	61					0	0	0.000443	0	0
ZNF99	7652	broad.mit.edu	37	19	22942301	22942301	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:22942301C>G	ENST00000397104.3	-	4	472	c.473G>C	c.(472-474)tGg>tCg	p.W158S	ZNF99_ENST00000596209.1_Missense_Mutation_p.W137S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTAGTTGTCCAACATTGGTT	0.303000													7	59					0	0	0.001984	0	0
PECR	55825	broad.mit.edu	37	2	216904001	216904001	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:216904001G>C	ENST00000265322.7	-	8	983	c.909C>G	c.(907-909)ctC>ctG	p.L303L		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	303					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCTCAGCTCAGAGCTTAGCTT	0.433000													19	83					0	0	0.000958	0	0
C8A	731	broad.mit.edu	37	1	57378249	57378249	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:57378249G>T	ENST00000361249.3	+	10	1650	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	518	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCAGGTGCCAGTGCCGCCTGG	0.602000													21	69					1.50039e-11	3.41636e-11	0.001882	1	0
NCAN	1463	broad.mit.edu	37	19	19356187	19356187	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:19356187G>A	ENST00000252575.5	+	13	3601	c.3558G>A	c.(3556-3558)gtG>gtA	p.V1186V	NCAN_ENST00000538881.1_Silent_p.V637V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1186	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACTGTGTGGTGATGGTGGCGC	0.577000													13	53					0	0	0.003163	0	0
ABCB11	8647	broad.mit.edu	37	2	169791840	169791840	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:169791840G>T	ENST00000263817.6	-	23	3034	c.2910C>A	c.(2908-2910)ccC>ccA	p.P970P		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	970	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGTCTTGAAGGGCTTCTCCA	0.453000													31	124					1.75199e-13	4.12329e-13	0.001271	1	0
HTR1A	3350	broad.mit.edu	37	5	63256751	63256751	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:63256751C>G	ENST00000323865.3	-	1	1029	c.796G>C	c.(796-798)Ggc>Cgc	p.G266R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	266					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCTCCACGCCCAGCCTCCAG	0.672000													9	94					0	0	0.004482	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754839	5754839	+	Splice_Site	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:5754839A>T	ENST00000414202.2	+	15	1793		c.e15-1		KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ttttattttaaGGAGCAAAAT	0.294000													6	16					0	0	0.001168	0	0
MCTP2	55784	broad.mit.edu	37	15	94901811	94901811	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:94901811A>T	ENST00000357742.4	+	9	1271	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	MCTP2_ENST00000557742.1_Missense_Mutation_p.D12V|MCTP2_ENST00000543482.1_3'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.D424V|MCTP2_ENST00000331706.4_Missense_Mutation_p.D12V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	424	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGGGAAAGGACAACAAAAAG	0.502000													6	21					0	0	0.001168	0	0
LY6K	54742	broad.mit.edu	37	8	143783130	143783130	+	Splice_Site	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:143783130G>C	ENST00000292430.6	+	2	633	c.217_splice	c.e2+1	p.V72_splice	LY6K_ENST00000522591.1_Silent_p.V72V|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000519387.1_Splice_Site_p.V72_splice|LY6K_ENST00000518841.1_Splice_Site_p.V72_splice|LY6K_ENST00000561179.1_Splice_Site_p.V130_splice			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	72	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAGCGGCCGTGAGTGAGTATC	0.483000													3	16					0	0	0.004672	0	0
GPR179	440435	broad.mit.edu	37	17	36484226	36484226	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484226C>G	ENST00000342292.4	-	11	5246	c.5226G>C	c.(5224-5226)gaG>gaC	p.E1742D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1742						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAACAGCTCTCTCCCTGGGTC	0.577000													5	52					0	0	0.000602	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124221632	124221632	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:124221632G>A	ENST00000330342.3	+	9	1100	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	284					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)		AGGACTATTTGAGGCAAGTGC	0.507000													11	109					0	0	0.000978	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269583	30269583	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30269583C>A	ENST00000378981.3	+	4	1294	c.973C>A	c.(973-975)Cgt>Agt	p.R325S	MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527000													19	76					4.96729e-08	1.05812e-07	0.001216	1	0
LMNB2	84823	broad.mit.edu	37	19	2435054	2435054	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:2435054T>C	ENST00000325327.3	-	5	862	c.800A>G	c.(799-801)cAc>cGc	p.H267R	LMNB2_ENST00000582871.1_Missense_Mutation_p.H247R			Q03252	LMNB2_HUMAN	lamin B2	247	Coil 2.|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)		TTGCTCGTCGTGCTGGCTCCG	0.711000													10	45					0	0	0.000978	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407736	1407736	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:1407736C>T	ENST00000381524.3	+	6	614	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	143						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	AGGGGTCCGACGGCCCCCCGT	0.473000													25	134					0	0	0.002780	0	0
PTPRM	5797	broad.mit.edu	37	18	7955122	7955122	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:7955122C>A	ENST00000332175.8	+	7	1879	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.P219Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.P281Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.P281Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.P68Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	281	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTTCAGAACCACCCGTTCCT	0.448000													10	56					3.86212e-05	7.69348e-05	0.000673	1	0
ANLN	54443	broad.mit.edu	37	7	36461541	36461541	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:36461541G>C	ENST00000265748.2	+	13	2460	c.2239G>C	c.(2239-2241)Gaa>Caa	p.E747Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E710Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	747	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTGTGTTGATGAAGAACATGG	0.393000													4	48					0	0	0.000248	0	0
EEA1	8411	broad.mit.edu	37	12	93170693	93170693	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:93170693C>G	ENST00000322349.8	-	28	4304	c.4040G>C	c.(4039-4041)aGa>aCa	p.R1347T		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1347					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GGCCCACTTTCTATTCAACGC	0.333000													8	109					0	0	0.000443	0	0
GALK2	2585	broad.mit.edu	37	15	49584728	49584728	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:49584728C>G	ENST00000327171.3	+	8	1160	c.928C>G	c.(928-930)Caa>Gaa	p.Q310E	GALK2_ENST00000396509.2_Missense_Mutation_p.Q297E|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000560031.1_Missense_Mutation_p.Q321E|GALK2_ENST00000559454.1_Missense_Mutation_p.Q297E|GALK2_ENST00000543495.1_Missense_Mutation_p.Q192E|GALK2_ENST00000544523.1_Missense_Mutation_p.Q297E	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	321					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TCCAAACACTCAAGATGGTGA	0.458000													6	32					0	0	0.001168	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516991	158516991	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:158516991T>C	ENST00000355585.4	+	27	4161	c.4086T>C	c.(4084-4086)aaT>aaC	p.N1362N	SYNJ2_ENST00000367112.1_Silent_p.N447N|SYNJ2_ENST00000367122.2_Silent_p.N1317N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1362							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCACTTACAATAGCAGTGACA	0.622000													8	31					0	0	0.003080	0	0
NLRP11	204801	broad.mit.edu	37	19	56300718	56300718	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:56300718A>G	ENST00000443188.1	-	10	3271	c.2561T>C	c.(2560-2562)aTa>aCa	p.I854T	NLRP11_ENST00000360133.3_Missense_Mutation_p.I800T|NLRP11_ENST00000592953.1_Missense_Mutation_p.I755T|NLRP11_ENST00000589824.2_Missense_Mutation_p.I800T|NLRP11_ENST00000589093.1_Missense_Mutation_p.I854T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	854							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCAATAACTATGGCAATATA	0.423000													25	115					0	0	0.005443	0	0
GRIK5	2901	broad.mit.edu	37	19	42558056	42558056	+	Missense_Mutation	SNP	C	C	T	rs137900269		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:42558056C>T	ENST00000262895.3	-	9	1081	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	GRIK5_ENST00000301218.4_Missense_Mutation_p.R361Q|GRIK5_ENST00000593562.1_Missense_Mutation_p.R361Q	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	361						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GAACTCGACCCGCCCGGTCAG	0.637000													10	25					0	0	0.001855	0	0
DLG3	1741	broad.mit.edu	37	X	69719860	69719860	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:69719860T>C	ENST00000194900.4	+	18	2543	c.2202T>C	c.(2200-2202)taT>taC	p.Y734Y	DLG3_ENST00000542398.1_Silent_p.Y251Y|DLG3_ENST00000374355.3_Silent_p.Y397Y|DLG3_ENST00000374360.3_Silent_p.Y702Y|DLG3_ENST00000461646.1_3'UTR			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	702	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATAACCTCTATGGGACCAGCA	0.498000													8	42					0	0	0.003080	0	0
ZNF597	146434	broad.mit.edu	37	16	3487315	3487315	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3487315T>A	ENST00000301744.4	-	4	619	c.384A>T	c.(382-384)ccA>ccT	p.P128P	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GTTCTACTAATGGGGTGTGGT	0.413000													24	76					0	0	0.002780	0	0
SSX5	6758	broad.mit.edu	37	X	48049698	48049698	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48049698G>A	ENST00000311798.1	-	7	512	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	SSX5_ENST00000376923.1_Missense_Mutation_p.P113S|SSX5_ENST00000347757.1_Missense_Mutation_p.P113S	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGCTTCTCGGGCGTGATCTTT	0.438000													54	243					0	0	0.003610	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982159	89982159	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:89982159C>G	ENST00000222511.6	+	2	129	c.63C>G	c.(61-63)ctC>ctG	p.L21L	GTPBP10_ENST00000257659.8_Silent_p.L21L	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	21					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGCTAAGACTCTTCACCAGGG	0.393000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	63					0	0	0.001984	0	0
PHF3	23469	broad.mit.edu	37	6	64394442	64394442	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:64394442G>C	ENST00000262043.3	+	4	1159	c.819G>C	c.(817-819)ttG>ttC	p.L273F	PHF3_ENST00000393387.1_Missense_Mutation_p.L273F|PHF3_ENST00000509330.1_Missense_Mutation_p.L273F			Q92576	PHF3_HUMAN	PHD finger protein 3	273					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATGAAGCTTTGATGGAATGTA	0.348000													5	63					0	0	0.000602	0	0
OR8H2	390151	broad.mit.edu	37	11	55873233	55873233	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55873233T>A	ENST00000313503.1	+	1	715	c.715T>A	c.(715-717)Tct>Act	p.S239T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAAGCTTTCTCTACTTGCGT	0.383000										HNSCC(53;0.14)			19	65					0	0	0.000958	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606461	84606461	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:84606461G>T	ENST00000344803.2	+	4	1123	c.1076G>T	c.(1075-1077)tGg>tTg	p.W359L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTCACCTGGTGGCAGCCTCAT	0.478000													15	85					1.02788e-11	2.35271e-11	0.004990	1	0
ZNF233	353355	broad.mit.edu	37	19	44778176	44778176	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44778176G>A	ENST00000391958.2	+	5	1490	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.E437K|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATATAAATGTGAGGTATGTGA	0.403000													14	67					0	0	0.001855	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169100	60169100	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:60169100T>A	ENST00000261187.4	+	4	1188	c.1024T>A	c.(1024-1026)Tta>Ata	p.L342I	SLC16A7_ENST00000552024.1_Missense_Mutation_p.L342I|SLC16A7_ENST00000543448.1_Missense_Mutation_p.L243I|SLC16A7_ENST00000552432.1_Missense_Mutation_p.L342I|SLC16A7_ENST00000547379.1_Missense_Mutation_p.L342I	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	342						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AAGCCTGGTATTATATGCTGT	0.453000													8	164					0	0	0.000673	0	0
TCP11	6954	broad.mit.edu	37	6	35087972	35087972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:35087972C>T	ENST00000311875.5	-	8	1535	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	TCP11_ENST00000244645.3_Missense_Mutation_p.R298H|TCP11_ENST00000373974.4_Missense_Mutation_p.R327H|TCP11_ENST00000373979.2_Missense_Mutation_p.R298H|TCP11_ENST00000444780.2_Missense_Mutation_p.R368H|TCP11_ENST00000412155.2_Missense_Mutation_p.R322H|TCP11_ENST00000512012.1_Missense_Mutation_p.R360H|TCP11_ENST00000418521.2_Missense_Mutation_p.R297H			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	360					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTTGGTTATGCGTTTCAGTTT	0.438000													4	24					0	0	0.000602	0	0
WDR16	146845	broad.mit.edu	37	17	9536276	9536276	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:9536276C>G	ENST00000352665.5	+	10	1315	c.1246C>G	c.(1246-1248)Cac>Gac	p.H416D	WDR16_ENST00000396219.3_Missense_Mutation_p.H348D|WDR16_ENST00000299764.5_Missense_Mutation_p.H426D	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	416						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TAACAATGCTCACAGGATCGG	0.517000													9	54					0	0	0.004482	0	0
PASK	23178	broad.mit.edu	37	2	242054809	242054809	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:242054809T>C	ENST00000403638.3	-	13	3183	c.3092A>G	c.(3091-3093)aAg>aGg	p.K1031R	PASK_ENST00000234040.4_Missense_Mutation_p.K1031R|PASK_ENST00000405260.1_Missense_Mutation_p.K1031R|PASK_ENST00000358649.4_Missense_Mutation_p.K1031R|PASK_ENST00000539818.1_Missense_Mutation_p.K815R|PASK_ENST00000544142.1_Missense_Mutation_p.K845R	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1031	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTTCTCCTTCTTAATAAACTT	0.493000													15	48					0	0	0.000743	0	0
NLRP9	338321	broad.mit.edu	37	19	56244612	56244612	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:56244612C>G	ENST00000332836.2	-	2	612	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	195	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTAAGCTGGTCTCTGCGATAC	0.458000													7	28					0	0	0.001984	0	0
ATP10A	57194	broad.mit.edu	37	15	25953204	25953204	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:25953204C>G	ENST00000356865.6	-	12	2605	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	832					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATTCGGCTTCTAGGTGGCTT	0.537000													9	48					0	0	0.004482	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929051	32929051	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:32929051A>T	ENST00000361627.3	+	12	2799	c.2077A>T	c.(2077-2079)Act>Tct	p.T693S	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T504S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T504S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	693					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATGTTATTCAACTCAGATGAA	0.318000													4	24					0	0	0.000248	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131137	55131137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:55131137C>A	ENST00000257290.5	+	5	1011	c.680C>A	c.(679-681)tCa>tAa	p.S227*	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	227	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGTATAAGTCAGGGGAAACG	0.433000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	100					2.44723e-14	5.81425e-14	0.004656	1	0
AMOT	154796	broad.mit.edu	37	X	112025794	112025794	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:112025794A>G	ENST00000371959.3	-	8	2213	c.2214T>C	c.(2212-2214)aaT>aaC	p.N738N	AMOT_ENST00000524145.1_Silent_p.N738N|AMOT_ENST00000304758.1_Silent_p.N329N|AMOT_ENST00000371958.1_Silent_p.N506N|AMOT_ENST00000371962.1_Silent_p.N506N	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	738					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCAACGCTTATTGGCCATCA	0.463000													5	64					0	0	0.000602	0	0
BICD1	636	broad.mit.edu	37	12	32260340	32260340	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:32260340G>C	ENST00000548411.1	+	1	256	c.75G>C	c.(73-75)acG>acC	p.T25T	BICD1_ENST00000281474.5_Silent_p.T25T|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000550207.1_Silent_p.T25T|BICD1_ENST00000551086.1_Silent_p.T25T|BICD1_ENST00000551848.1_Silent_p.T25T	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	25					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGCTCACGGAGACCACCC	0.572000													6	15					0	0	0.001984	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134149	91134149	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:91134149C>A	ENST00000373094.1	+	2	3755	c.2910C>A	c.(2908-2910)aaC>aaA	p.N970K	PCDH11X_ENST00000373088.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N970K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N970K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N970K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	970					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTCGATAACACCTTTGTGG	0.502000													50	154					4.86159e-25	1.20747e-24	0.003610	1	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5656091	5656091	+	Splice_Site	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5656091G>C	ENST00000354852.5	+	10	1985	c.1812_splice	c.e10+1	p.Q604_splice	TRIM34_ENST00000429814.2_Splice_Site_p.Q250_splice|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Splice_Site_p.Q250_splice|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.Q250_splice	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		604						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGCTGCTGCAGGTAAGAAGGT	0.517000													7	19					0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	90073767	90073767	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:90073767G>C	ENST00000405460.2	+	62	12669	c.12573G>C	c.(12571-12573)tgG>tgC	p.W4191C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4191					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTGTTCTGGAGGATATTCC	0.428000													6	17					0	0	0.001168	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299012	125299012	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:125299012A>T	ENST00000538699.1	-	2	976	c.896T>A	c.(895-897)cTg>cAg	p.L299Q	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.L299Q	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	299										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGATGGACAGGAGCCTGGA	0.612000													22	107					0	0	0.001882	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903644	38903644	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38903644G>C	ENST00000454404.2	-	12	1573	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	RASGRP4_ENST00000587738.1_Missense_Mutation_p.Q488E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q474E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q396E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q299E|RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q391E|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q419E	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	488					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGTCCTCCTGAGAGATTGTT	0.542000													16	75					0	0	0.000743	0	0
MYO19	80179	broad.mit.edu	37	17	34871743	34871743	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:34871743C>G	ENST00000431794.3	-	7	1027	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	MYO19_ENST00000268852.9_Missense_Mutation_p.E169Q|MYO19_ENST00000544606.1_Missense_Mutation_p.E35Q|MYO19_ENST00000586007.1_Missense_Mutation_p.E169Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	169	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCCTCTGTTCTATCCTCTCT	0.517000													8	37					0	0	0.004482	0	0
MYEOV	26579	broad.mit.edu	37	11	69063361	69063361	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:69063361G>T	ENST00000535407.1	+	2	913	c.270G>T	c.(268-270)ggG>ggT	p.G90G	MYEOV_ENST00000308946.3_Silent_p.G148G|MYEOV_ENST00000441339.2_Silent_p.G148G			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	148										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGGCACTGGGAACAGGAATT	0.622000													16	330					4.75885e-15	1.1368e-14	0.004990	1	0
ASB4	51666	broad.mit.edu	37	7	95157454	95157454	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:95157454G>C	ENST00000325885.5	+	3	888	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	ASB4_ENST00000428113.1_Missense_Mutation_p.E273Q	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	273					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGATGCTGGAAGCTGGCGC	0.562000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	60					0	0	0.001287	0	0
TRIML2	205860	broad.mit.edu	37	4	189018247	189018247	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:189018247C>G	ENST00000512729.1	-	6	937	c.563G>C	c.(562-564)aGa>aCa	p.R188T	TRIML2_ENST00000326754.3_Missense_Mutation_p.R213T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	188	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTGAGTCCTCTTATGTGGCA	0.493000													12	112					0	0	0.002450	0	0
NPAP1	23742	broad.mit.edu	37	15	24923661	24923661	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:24923661C>A	ENST00000329468.2	+	1	3121	c.2647C>A	c.(2647-2649)Cca>Aca	p.P883T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGATAGGAGACCAACCACAAC	0.483000													16	122					6.31663e-08	1.34391e-07	0.003163	1	0
ZNF445	353274	broad.mit.edu	37	3	44489577	44489577	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:44489577G>A	ENST00000425708.2	-	7	1927	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	ZNF445_ENST00000396077.2_Missense_Mutation_p.A529V			P59923	ZN445_HUMAN	zinc finger protein 445	529					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)		CTCATGCCGCGCACAGTTGGA	0.483000													9	73					0	0	0.000443	0	0
KIF27	55582	broad.mit.edu	37	9	86452160	86452160	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:86452160T>C	ENST00000297814.2	-	18	4105	c.3962A>G	c.(3961-3963)aAt>aGt	p.N1321S	KIF27_ENST00000413982.1_Missense_Mutation_p.N1255S|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.N1224S|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1321					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCTGTTTTATTCTCATTACC	0.418000													24	24					0	0	0.002096	0	0
OR5A2	219981	broad.mit.edu	37	11	59190214	59190214	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:59190214G>T	ENST00000302040.4	-	1	235	c.213C>A	c.(211-213)gaC>gaA	p.D71E		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CATAGCAGATGTCCAGGAAGG	0.493000													21	70					1.28384e-07	2.71498e-07	0.001882	1	0
TRHR	7201	broad.mit.edu	37	8	110100017	110100017	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110100017C>A	ENST00000518632.1	+	2	627	c.276C>A	c.(274-276)gtC>gtA	p.V92V	TRHR_ENST00000311762.2_Silent_p.V92V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	92						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTTCCTGGGTCTATGGCTATG	0.483000													43	83					3.05275e-18	7.41381e-18	0.003214	1	0
ICMT	23463	broad.mit.edu	37	1	6291999	6291999	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:6291999G>C	ENST00000343813.5	-	4	663	c.635C>G	c.(634-636)tCt>tGt	p.S212C		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	212					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCGACGTAAGAAGGATGCCG	0.373000													3	51					0	0	0.004672	0	0
SIM1	6492	broad.mit.edu	37	6	100868714	100868714	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:100868714G>A	ENST00000369208.3	-	10	1901	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	SIM1_ENST00000262901.4_Silent_p.S373S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	373	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGAGAGCCGGGATTTGGCCC	0.507000													11	37					0	0	0.001368	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564192	46564192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:46564192G>A	ENST00000458649.2	-	7	1793	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q369*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q369*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q459*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	459					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACAGATGCCTGAGAGCCACCT	0.572000													10	49					0	0	0.000673	0	0
TAB3	257397	broad.mit.edu	37	X	30872655	30872655	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30872655G>T	ENST00000378933.1	-	3	1304	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	TAB3_ENST00000288422.2_Missense_Mutation_p.P376H|TAB3_ENST00000378932.2_Missense_Mutation_p.P376H|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.P376H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	376	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGTCCCAGGTCTTTGAGA	0.438000													30	116					5.60225e-13	1.30794e-12	0.001786	1	0
RAD50	10111	broad.mit.edu	37	5	131973799	131973799	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:131973799G>A	ENST00000378823.3	+	23	3903	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	AC004041.2_ENST00000435042.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.D1168N|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000417516.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1168					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATACGGTCTGATGCCGATGA	0.398000								Homologous recombination					9	46					0	0	0.004482	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650455	94650455	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:94650455C>T	ENST00000260526.6	-	18	2264	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	694	Rho-GAP.				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)		TATTTTCAATCTCTGAGGCAC	0.323000													6	44					0	0	0.004482	0	0
NRAS	4893	broad.mit.edu	37	1	115256551	115256551	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:115256551C>A	ENST00000369535.4	-	3	413	c.160G>T	c.(160-162)Gac>Tac	p.D54Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	54					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGTATGTCCAACAAACAG	0.458000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			32	97					4.34311e-12	9.96694e-12	0.003271	1	0
EXOSC9	5393	broad.mit.edu	37	4	122734498	122734498	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:122734498G>A	ENST00000512454.1	+	8	1105	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.E313K|EXOSC9_ENST00000379663.3_Missense_Mutation_p.E313K			Q06265	EXOS9_HUMAN	exosome component 9	313					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AGAAAAAGCAGAAGAAATCAT	0.363000													10	111					0	0	0.000978	0	0
ZNF43	7594	broad.mit.edu	37	19	21991840	21991840	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:21991840C>T	ENST00000594012.1	-	7	1495	c.981G>A	c.(979-981)aaG>aaA	p.K327K	ZNF43_ENST00000598381.1_Silent_p.K327K|ZNF43_ENST00000354959.4_Silent_p.K333K|ZNF43_ENST00000595461.1_Silent_p.K327K	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	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TATGAATTCTCTTATGTTTAG	0.388000													11	57					0	0	0.000978	0	0
TRIM22	10346	broad.mit.edu	37	11	5717502	5717502	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5717502A>T	ENST00000379965.3	+	2	317	c.40A>T	c.(40-42)Acc>Tcc	p.T14S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	14					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAGGAGGTGACCTGCCCCAT	0.507000													16	46					0	0	0.003163	0	0
SNX32	254122	broad.mit.edu	37	11	65617935	65617935	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:65617935G>A	ENST00000308342.6	+	5	833	c.408G>A	c.(406-408)gcG>gcA	p.A136A		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	136	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGACAGTTGCGATGCACGAAG	0.592000													6	57					0	0	0.001168	0	0
BAZ2B	29994	broad.mit.edu	37	2	160294955	160294955	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:160294955C>G	ENST00000392783.2	-	8	1647	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	BAZ2B_ENST00000343439.5_Silent_p.V382V|BAZ2B_ENST00000355831.2_Silent_p.V384V|BAZ2B_ENST00000392782.1_Silent_p.V382V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATAAAGGTTTCACATTGGACA	0.393000													22	62					0	0	0.001882	0	0
OR5T3	390154	broad.mit.edu	37	11	56020312	56020312	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56020312C>T	ENST00000303059.3	+	1	637	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGATATGCCTCCTCTCCTTGC	0.408000													6	219					0	0	0.001168	0	0
HSPA8	3312	broad.mit.edu	37	11	122931384	122931384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:122931384C>G	ENST00000534624.1	-	3	604	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.E110Q|HSPA8_ENST00000453788.2_Missense_Mutation_p.E110Q|HSPA8_ENST00000526110.1_Missense_Mutation_p.E110Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E110Q	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	110					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTTTGGTCTCTCCCTTGTAT	0.453000													8	78					0	0	0.003080	0	0
PPP5D1	100506012	broad.mit.edu	37	19	47030233	47030233	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:47030233C>A	ENST00000414155.1	-	2	414	c.184G>T	c.(184-186)Ggc>Tgc	p.G62C						PPP5 tetratricopeptide repeat domain containing 1																		TGCTCGTCGCCTGCGATGGCC	0.582000													6	13					0.00116845	0.00223601	0.001168	1	0
OR3A4P	390756	broad.mit.edu	37	17	3213903	3213903	+	RNA	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:3213903G>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							TATAAGGCCTGCCTCTCCGAG	0.562000													24	75					7.87624e-14	1.86621e-13	0.002780	1	0
ABHD17C	58489	broad.mit.edu	37	15	81041863	81041863	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:81041863G>T	ENST00000258884.4	+	2	727	c.600G>T	c.(598-600)gtG>gtT	p.V200V	ABHD17C_ENST00000558464.1_Silent_p.V200V|ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_5'UTR	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		GGTATGGCGTGAGTCCCGAGA	0.483000													8	70					3.09899e-07	6.52987e-07	0.004482	1	0
WAS	7454	broad.mit.edu	37	X	48542680	48542680	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48542680C>A	ENST00000376701.4	+	2	216	c.141C>A	c.(139-141)gcC>gcA	p.A47A	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	47	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGACGCTGGCCACTGCAGTTG	0.602000			"""Mis, N, F, S"""			lymphoma							18	48					2.35188e-11	5.34824e-11	0.000743	1	0
DISP1	84976	broad.mit.edu	37	1	223176180	223176180	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:223176180G>T	ENST00000284476.6	+	8	1605	c.1441G>T	c.(1441-1443)Gtg>Ttg	p.V481L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	481					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCTGACGGCGTGACTACCAT	0.418000													24	74					4.26978e-12	9.81152e-12	0.003330	1	0
ZMYND8	23613	broad.mit.edu	37	20	45865143	45865143	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:45865143G>A	ENST00000311275.7	-	16	2976	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	ZMYND8_ENST00000360911.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S882L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S856L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S935L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S928L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S776L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S799L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S862L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S882L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	908							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGTTGACTGAGGACACAAG	0.587000													11	97					0	0	0.001855	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215588	140215588	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140215588G>C	ENST00000525929.1	+	1	1620	c.1620G>C	c.(1618-1620)gcG>gcC	p.A540A	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A540A|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.682000													36	155					0	0	0.005524	0	0
GABRA6	2559	broad.mit.edu	37	5	161119065	161119065	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:161119065C>T	ENST00000523217.1	+	8	1157	c.915C>T	c.(913-915)ttC>ttT	p.F305F	GABRA6_ENST00000274545.5_Silent_p.F315F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	315					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATTCGTCTTCTCTGCGCTTA	0.488000										TCGA Ovarian(5;0.080)			10	92					0	0	0.000673	0	0
CCDC6	8030	broad.mit.edu	37	10	61666097	61666097	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:61666097G>C	ENST00000263102.6	-	1	317	c.86C>G	c.(85-87)tCg>tGg	p.S29W		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	29						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		gccCGAGGTCGACGAGCAGGA	0.756000			T	RET	NSCLC								5	41					0	0	0.001984	0	0
FNDC9	408263	broad.mit.edu	37	5	156770191	156770191	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:156770191G>A	ENST00000312349.4	-	2	541	c.354C>T	c.(352-354)gcC>gcT	p.A118A	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	118						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCAGCAGAATGGCCATCAGCA	0.592000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	51					0	0	0.003163	0	0
VASH2	79805	broad.mit.edu	37	1	213146178	213146178	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:213146178G>T	ENST00000366968.4	+	7	909	c.559G>T	c.(559-561)Gtc>Ttc	p.V187F	VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Missense_Mutation_p.V208F|VASH2_ENST00000517399.1_Missense_Mutation_p.V252F|VASH2_ENST00000366964.3_Missense_Mutation_p.V110F|VASH2_ENST00000366967.2_Missense_Mutation_p.V148F|VASH2_ENST00000366966.2_Missense_Mutation_p.V187F	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	252					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGGGCTGTACGTCCCCCATGA	0.498000													32	60					1.36161e-19	3.32059e-19	0.004289	1	0
KAT8	84148	broad.mit.edu	37	16	31131716	31131716	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31131716G>T	ENST00000543774.2	+	4	678	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L	KAT8_ENST00000448516.2_Missense_Mutation_p.V115L|KAT8_ENST00000219797.4_Missense_Mutation_p.V115L			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	115	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GACCAAGACAGTGAAGGATGC	0.557000													23	41					1.64293e-13	3.87184e-13	0.003330	1	0
LRRC56	115399	broad.mit.edu	37	11	549902	549902	+	Splice_Site	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:549902G>T	ENST00000270115.7	+	7	827	c.326_splice	c.e7-1	p.R109_splice		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	109										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTCTGCAGGGACTTGGGCA	0.627000													12	31					7.03913e-09	1.52355e-08	0.001368	1	0
THRAP3	9967	broad.mit.edu	37	1	36755352	36755352	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:36755352G>A	ENST00000354618.5	+	5	1956	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Missense_Mutation_p.E578K	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	578					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTTTTGATGAGGACCTCGC	0.512000			T	USP6	aneurysmal bone cysts								5	48					0	0	0.001168	0	0
BRINP1	1620	broad.mit.edu	37	9	121976297	121976297	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:121976297C>G	ENST00000265922.3	-	6	1283	c.822G>C	c.(820-822)ccG>ccC	p.P274P	DBC1_ENST00000373964.2_Silent_p.P274P	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		274					cell cycle arrest|cell death	cytoplasm	protein binding			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						AGTTGCACTGCGGAAACTCCT	0.552000													18	88					0	0	0.000743	0	0
MCMBP	79892	broad.mit.edu	37	10	121618670	121618670	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:121618670G>T	ENST00000360003.3	-	3	337	c.168C>A	c.(166-168)ccC>ccA	p.P56P	MCMBP_ENST00000369077.3_Silent_p.P56P|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	56					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AATAATGAAGGGGAACTTCGT	0.328000													11	29					6.40141e-05	0.000126941	0.000978	1	0
ZNF451	26036	broad.mit.edu	37	6	57013446	57013446	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:57013446G>C	ENST00000370706.4	+	10	2807	c.2563G>C	c.(2563-2565)Gac>Cac	p.D855H	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D855H|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D855H|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	855					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAAAGTTTAGACATGGAGAA	0.333000													4	33					0	0	0.000248	0	0
CD209	30835	broad.mit.edu	37	19	7810693	7810693	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7810693C>T	ENST00000315599.7	-	4	481	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CD209_ENST00000204801.8_Silent_p.L109L|CD209_ENST00000354397.6_Silent_p.L153L|CD209_ENST00000315591.8_Silent_p.L129L|CD209_ENST00000601951.1_Silent_p.L129L|CD209_ENST00000601256.1_Silent_p.L129L|CD209_ENST00000394173.4_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Silent_p.L153L|CD209_ENST00000593821.1_Silent_p.L109L|CD209_ENST00000593660.1_Silent_p.L129L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	153	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCAGCCTTCAGCCAGGTCA	0.552000													17	196					0	0	0.004007	0	0
ABCF3	55324	broad.mit.edu	37	3	183905711	183905711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:183905711C>T	ENST00000429586.2	+	6	694	c.509C>T	c.(508-510)tCt>tTt	p.S170F	ABCF3_ENST00000292808.5_Missense_Mutation_p.S164F|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	170							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGAATCATCTGGCAAGAAC	0.478000													11	117					0	0	0.000673	0	0
BCL10	8915	broad.mit.edu	37	1	85733496	85733496	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:85733496C>T	ENST00000370580.1	-	3	1253	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	172					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CAGGCAAATTCAGAGAAGAAT	0.463000			T	IGH@	MALT								14	55					0	0	0.001855	0	0
BRINP1	1620	broad.mit.edu	37	9	122075438	122075438	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:122075438T>C	ENST00000265922.3	-	2	657	c.196A>G	c.(196-198)Aca>Gca	p.T66A	DBC1_ENST00000373964.2_Missense_Mutation_p.T66A	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		66					cell cycle arrest|cell death	cytoplasm	protein binding			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						TATCTGGTTGTAAATCCTTGA	0.443000													5	31					0	0	0.001168	0	0
IGHM	3507	broad.mit.edu	37	14	106321086	106321086	+	RNA	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:106321086G>A	ENST00000390559.2	-	0	902																											CGGTGCACGTGAACCTCTCCC	0.622000													5	26					0	0	0.001168	0	0
LTBP4	8425	broad.mit.edu	37	19	41114228	41114228	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:41114228C>T	ENST00000308370.7	+	11	1460	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.S420L|LTBP4_ENST00000204005.9_Missense_Mutation_p.S450L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	487	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCGAGTGTCACTCAGCCAG	0.662000													4	22					0	0	0.000248	0	0
ZNF264	9422	broad.mit.edu	37	19	57723646	57723646	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:57723646C>T	ENST00000263095.6	+	4	1595	c.1181C>T	c.(1180-1182)aCt>aTt	p.T394I	ZNF264_ENST00000536056.1_Missense_Mutation_p.T394I	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		GTCATCCACACTGGAGAGAAG	0.552000													9	56					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	186064470	186064470	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:186064470G>T	ENST00000271588.4	+	68	10619	c.10390G>T	c.(10390-10392)Gct>Tct	p.A3464S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3464S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3464	Ig-like C2-type 33.				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						TGGAACCCCAGCTCCCAGTAT	0.517000													8	39					0.000157383	0.000307222	0.003080	1	0
MYH11	4629	broad.mit.edu	37	16	15833949	15833949	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:15833949C>T	ENST00000338282.6	-	23	3062	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MYH11_ENST00000396324.3_Missense_Mutation_p.E993K|MYH11_ENST00000452625.2_Missense_Mutation_p.E993K|MYH11_ENST00000300036.5_Missense_Mutation_p.E986K|MYH11_ENST00000576790.1_Missense_Mutation_p.E986K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCAGGATCTCATCCTCCAGT	0.517000			T	CBFB	AML								7	119					0	0	0.003080	0	0
CCDC155	147872	broad.mit.edu	37	19	49912474	49912474	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49912474G>A	ENST00000447857.3	+	14	1285	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	360						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						GGGCCCAGCTGAGAAGAGTGG	0.632000													5	19					0	0	0.001168	0	0
TARSL2	123283	broad.mit.edu	37	15	102215919	102215919	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:102215919A>T	ENST00000335968.3	-	13	1888	c.1672T>A	c.(1672-1674)Tgt>Agt	p.C558S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	558					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTGCAAACACCCCTTTATT	0.328000													19	47					0	0	0.000958	0	0
C5orf51	285636	broad.mit.edu	37	5	41904501	41904501	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:41904501G>A	ENST00000381647.2	+	1	51	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	11										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGGTGAGACGAGTGGAAGAG	0.662000													6	31					0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	185972962	185972962	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:185972962G>T	ENST00000271588.4	+	29	4690	c.4461G>T	c.(4459-4461)tgG>tgT	p.W1487C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W1487C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1487	Ig-like C2-type 12.				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						ATATTCATTGGTTCAAAGATG	0.403000													6	56					0.00307968	0.00578596	0.003080	1	0
TAZ	6901	broad.mit.edu	37	X	153648522	153648522	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153648522C>A	ENST00000369776.4	+	5	613	c.528C>A	c.(526-528)caC>caA	p.H176Q	TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000299328.5_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCACCCCACGTCTGGCCTT	0.642000													11	221					0.00010058	0.000197439	0.001368	1	0
GEN1	348654	broad.mit.edu	37	2	17954379	17954379	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:17954379G>C	ENST00000381254.2	+	9	1184	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	GEN1_ENST00000317402.7_Missense_Mutation_p.E324Q|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	324					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGCTGTTGTGAGGGATTCCC	0.294000								Homologous recombination					4	34					0	0	0.000248	0	0
YY2	404281	broad.mit.edu	37	X	21875297	21875297	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:21875297C>T	ENST00000429584.2	+	1	1193	c.695C>T	c.(694-696)cCt>cTt	p.P232L	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CTCTCAGATCCTAAACAGCTG	0.483000													179	219					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190067524	190067524	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:190067524T>A	ENST00000367462.3	-	8	2156	c.1925A>T	c.(1924-1926)gAg>gTg	p.E642V	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E540V	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		642						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTAAATGCTCTCATTACCATT	0.413000													34	177					0	0	0.002445	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155924708	155924708	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:155924708G>A	ENST00000368316.1	-	18	2154	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	ARHGEF2_ENST00000368315.3_Silent_p.L591L|ARHGEF2_ENST00000313695.7_Silent_p.L562L|ARHGEF2_ENST00000361247.4_Silent_p.L590L|ARHGEF2_ENST00000313667.4_Silent_p.L589L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	590	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATTCGCCGCAGGTAAGCCTCA	0.453000													35	80					0	0	0.001706	0	0
NPR2	4882	broad.mit.edu	37	9	35801681	35801681	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35801681G>T	ENST00000342694.2	+	8	1733	c.1478G>T	c.(1477-1479)cGt>cTt	p.R493L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	493					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGTTGTGGCGTATTCGCTGG	0.552000													23	45					1.64293e-13	3.87184e-13	0.003330	1	0
MLKL	197259	broad.mit.edu	37	16	74716632	74716632	+	Silent	SNP	C	C	G	rs150099936		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:74716632C>G	ENST00000308807.7	-	6	1336	c.873G>C	c.(871-873)ctG>ctC	p.L291L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	291	Protein kinase.		L -> P (in a gastric adenocarcinoma sample; somatic mutation).				ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ACAGCTCCCTCAGGGTCCCGA	0.557000													3	53					0	0	0.004672	0	0
OR5T3	390154	broad.mit.edu	37	11	56019731	56019731	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56019731T>A	ENST00000303059.3	+	1	56	c.56T>A	c.(55-57)aTg>aAg	p.M19K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAAACTGAAATGGACAAGTTG	0.368000													5	37					0	0	0.001168	0	0
INPP4A	3631	broad.mit.edu	37	2	99180077	99180077	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:99180077C>T	ENST00000074304.5	+	19	2413	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C	INPP4A_ENST00000545415.1_Missense_Mutation_p.R635C|INPP4A_ENST00000409851.3_Missense_Mutation_p.R669C|INPP4A_ENST00000409540.3_Missense_Mutation_p.R635C|INPP4A_ENST00000523221.1_Missense_Mutation_p.R674C|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.R635C	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	674					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCAGTACCGCCGTGACGTGGT	0.622000													5	39					0	0	0.000602	0	0
GTF3C1	2975	broad.mit.edu	37	16	27561184	27561184	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:27561184C>G	ENST00000356183.4	-	1	43	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E10Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	10						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGAGCGACTTCGTCCAACAAC	0.687000													10	23					0	0	0.000978	0	0
GLUD2	2747	broad.mit.edu	37	X	120183197	120183197	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:120183197T>C	ENST00000328078.1	+	1	1736	c.1659T>C	c.(1657-1659)gcT>gcC	p.A553A		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	553					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACAGTGAAGCTGGTGTGACCT	0.433000													20	108					0	0	0.001882	0	0
C2orf68	388969	broad.mit.edu	37	2	85836166	85836166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:85836166C>G	ENST00000306336.5	-	4	447	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	135										breast(1)|central_nervous_system(1)|endometrium(1)	3						GACACCTTCTCACTCACCTTT	0.577000													5	45					0	0	0.000602	0	0
DCHS2	54798	broad.mit.edu	37	4	155236942	155236942	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:155236942C>A	ENST00000357232.3	-	15	3852	c.3853G>T	c.(3853-3855)Ggg>Tgg	p.G1285W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368000													7	75					1.06961e-07	2.27017e-07	0.003080	1	0
DOCK1	1793	broad.mit.edu	37	10	129179577	129179577	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:129179577G>C	ENST00000280333.6	+	37	3798	c.3689G>C	c.(3688-3690)tGt>tCt	p.C1230S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1230	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACAAGGAGTGTGATAACTAC	0.373000													40	78					0	0	0.003610	0	0
LEKR1	389170	broad.mit.edu	37	3	156711004	156711004	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:156711004G>T	ENST00000470811.1	+	10	1470	c.135G>T	c.(133-135)ctG>ctT	p.L45L	LEKR1_ENST00000356539.4_Silent_p.L349L			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	58										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAATGAACTGGAGATAACCA	0.328000													21	88					4.26978e-12	9.81152e-12	0.003330	1	0
OR10J1	26476	broad.mit.edu	37	1	159410397	159410397	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:159410397G>C	ENST00000423932.3	+	1	886	c.849G>C	c.(847-849)ctG>ctC	p.L283L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	283					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGACCAGCTGATCTCGGTGA	0.522000													22	88					0	0	0.002780	0	0
SCRN1	9805	broad.mit.edu	37	7	29980412	29980412	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:29980412G>C	ENST00000426154.1	-	5	801	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.Q209E|SCRN1_ENST00000409497.1_Missense_Mutation_p.Q209E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	209					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						CCTTGGCTCTGAGCGTAACTC	0.527000													18	162					0	0	0.001216	0	0
TRUB1	142940	broad.mit.edu	37	10	116698023	116698023	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:116698023C>G	ENST00000298746.3	+	1	72	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	4					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGGCCGCTTCTGAGGCGGCG	0.572000													5	51					0	0	0.000602	0	0
KCND1	3750	broad.mit.edu	37	X	48826247	48826247	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48826247G>T	ENST00000218176.3	-	1	1729	c.432C>A	c.(430-432)gcC>gcA	p.A144A		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	144						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCAGGCGCTCGGCATTCTCCT	0.657000													9	19					1.12685e-05	2.26795e-05	0.004482	1	0
ZNF296	162979	broad.mit.edu	37	19	45575215	45575215	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:45575215C>T	ENST00000303809.2	-	3	1286	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	358					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GTTCTTTGTTCCGTGGTGATG	0.652000													12	149					0	0	0.002450	0	0
FANCM	57697	broad.mit.edu	37	14	45605509	45605509	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:45605509G>C	ENST00000267430.5	+	1	360	c.275G>C	c.(274-276)cGg>cCg	p.R92P	FANCM_ENST00000556036.1_Missense_Mutation_p.R92P|FANCM_ENST00000542564.2_Missense_Mutation_p.R92P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	92					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCCCAGTGCGGGACTACCAG	0.597000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	53					0	0	0.001855	0	0
TLN1	7094	broad.mit.edu	37	9	35716451	35716451	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35716451C>A	ENST00000314888.9	-	20	2914	c.2561G>T	c.(2560-2562)cGc>cTc	p.R854L	TLN1_ENST00000540444.1_Missense_Mutation_p.R854L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	854					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAAGAGCTTGCGGGAGTTCTC	0.567000													22	86					1.96292e-10	4.40651e-10	0.001523	1	0
CMYA5	202333	broad.mit.edu	37	5	79030276	79030276	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:79030276G>T	ENST00000446378.2	+	2	5719	c.5688G>T	c.(5686-5688)ttG>ttT	p.L1896F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1896						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)		ACTGGATGTTGGGAAAGCCAG	0.433000													11	52					4.68919e-08	1.00131e-07	0.000673	1	0
POSTN	10631	broad.mit.edu	37	13	38143521	38143521	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:38143521C>T	ENST00000379747.4	-	21	2465		c.e21-1		POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541179.1_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGGTGACCTCTGAGAGGATA	0.348000													9	48					0	0	0.004482	0	0
MYRIP	25924	broad.mit.edu	37	3	40231679	40231679	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:40231679C>A	ENST00000302541.6	+	10	1732	c.1390C>A	c.(1390-1392)Cga>Aga	p.R464R	MYRIP_ENST00000539167.1_Silent_p.R277R|MYRIP_ENST00000444716.1_Silent_p.R464R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.R464R|MYRIP_ENST00000396217.3_Silent_p.R375R	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	464	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCTCTTCCCGAGAAGTTGG	0.622000													15	42					0.000308642	0.00060048	0.003163	1	0
L1CAM	3897	broad.mit.edu	37	X	153132824	153132824	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153132824G>C	ENST00000370060.1	-	17	2313	c.2124C>G	c.(2122-2124)gtC>gtG	p.V708V	L1CAM_ENST00000361699.4_Silent_p.V708V|L1CAM_ENST00000370057.3_Silent_p.V708V|L1CAM_ENST00000370055.1_Silent_p.V703V|L1CAM_ENST00000543994.1_Silent_p.V710V|L1CAM_ENST00000538883.1_Silent_p.V710V|L1CAM_ENST00000361981.3_Silent_p.V703V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	708					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGGTGTGACCACAGTCT	0.607000													7	120					0	0	0.003080	0	0
HMCN1	83872	broad.mit.edu	37	1	185833652	185833652	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:185833652G>A	ENST00000271588.4	+	3	619	c.390G>A	c.(388-390)ttG>ttA	p.L130L	HMCN1_ENST00000367492.2_Silent_p.L130L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	130	VWFA.				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						AAATTGCCTTGGAAATTTCTC	0.408000													6	43					0	0	0.001984	0	0
CLRN2	645104	broad.mit.edu	37	4	17528565	17528565	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:17528565G>A	ENST00000511148.2	+	3	661	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	187						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACAGTATGAAGAGTCGTTTTG	0.517000													7	43					0	0	0.001984	0	0
ATP2C1	27032	broad.mit.edu	37	3	130649306	130649306	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:130649306T>A	ENST00000510168.1	+	3	603	c.53T>A	c.(52-54)aTt>aAt	p.I18N	ATP2C1_ENST00000508532.1_Missense_Mutation_p.I18N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I2N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I18N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I52N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I52N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I18N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I18N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I18N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	18					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAGACAATGATTCCTGTATTG	0.363000									Hailey-Hailey disease				7	36					0	0	0.000673	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376525	50376525	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:50376525G>T	ENST00000376020.2	-	4	2573	c.2548C>A	c.(2548-2550)Ctt>Att	p.L850I	SHROOM4_ENST00000460112.3_Missense_Mutation_p.L734I|SHROOM4_ENST00000289292.7_Missense_Mutation_p.L850I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	850					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)					TCTGACTGAAGGGGTGACATG	0.443000													23	111					1.1804e-14	2.81207e-14	0.003954	1	0
DKC1	1736	broad.mit.edu	37	X	153997472	153997472	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153997472G>A	ENST00000369550.5	+	9	1012	c.802G>A	c.(802-804)Gat>Aat	p.D268N	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	268					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATGTGCTTGATGCTCAGTG	0.433000									Congenital Dyskeratosis				10	140					0	0	0.001368	0	0
R3HDM1	23518	broad.mit.edu	37	2	136362449	136362449	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:136362449G>A	ENST00000264160.4	+	3	404	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.E12K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.E12K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.E12K|R3HDM1_ENST00000410054.1_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	12							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGTAAAAGATGAAACTGCAAC	0.328000													8	51					0	0	0.000443	0	0
DNAH7	56171	broad.mit.edu	37	2	196729351	196729351	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:196729351C>T	ENST00000312428.6	-	41	7128	c.7028G>A	c.(7027-7029)gGa>gAa	p.G2343E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2343	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCACTCCCTCCAACCCCTAC	0.483000													4	52					0	0	0.000248	0	0
MPPED1	758	broad.mit.edu	37	22	43830958	43830958	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:43830958G>C	ENST00000417669.1	+	3	673	c.229G>C	c.(229-231)Gac>Cac	p.D77H	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.D110H|MPPED1_ENST00000443721.1_Missense_Mutation_p.D77H|MPPED1_ENST00000542779.1_Missense_Mutation_p.D77H			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	77							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGCAGGGTGGACCCGGTGCC	0.657000													14	130					0	0	0.001855	0	0
OR8U1	219417	broad.mit.edu	37	11	56143320	56143320	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56143320C>T	ENST00000302270.1	+	1	221	c.221C>T	c.(220-222)tCt>tTt	p.S74F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTCTGTTACTCTTCTGTCATT	0.403000													6	162					0	0	0.001984	0	0
SMTN	6525	broad.mit.edu	37	22	31492986	31492986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:31492986G>A	ENST00000333137.7	+	15	2247	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.D677N|SMTN_ENST00000347557.2_Missense_Mutation_p.D677N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	677					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCTGCAGATGATGGCACACG	0.657000													5	42					0	0	0.000602	0	0
BRAF	673	broad.mit.edu	37	7	140449137	140449137	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:140449137C>G	ENST00000288602.6	-	16	2002	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	648	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTCATCAATTCATACAGAACA	0.363000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	38					0	0	0.004482	0	0
GGT7	2686	broad.mit.edu	37	20	33440233	33440233	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:33440233C>A	ENST00000336431.5	-	11	1472	c.1428G>T	c.(1426-1428)gtG>gtT	p.V476V	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	476					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCATGATCAGCACCTGGGCAG	0.592000													21	68					5.35356e-11	1.21112e-10	0.002780	1	0
UNC5C	8633	broad.mit.edu	37	4	96256640	96256640	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:96256640G>T	ENST00000453304.1	-	2	615	c.267C>A	c.(265-267)acC>acA	p.T89T	UNC5C_ENST00000504962.1_Silent_p.T89T|UNC5C_ENST00000506749.1_Silent_p.T89T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	89	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATAGATCTGGGTGGCAGGGC	0.428000													20	46					1.50039e-11	3.41636e-11	0.001882	1	0
XAGE5	170627	broad.mit.edu	37	X	52844169	52844169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:52844169G>T	ENST00000351072.1	+	4	298	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	XAGE5_ENST00000425386.1_Nonsense_Mutation_p.E78*|XAGE5_ENST00000375501.1_Nonsense_Mutation_p.E78*|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	78										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GACTGGGGATGAATGCGGAGA	0.428000													6	52					0.00198382	0.00375531	0.001984	1	0
ARHGEF37	389337	broad.mit.edu	37	5	149006649	149006649	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:149006649C>T	ENST00000333677.6	+	11	1638	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	492					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGCTCCTTCCAGGGTCTGAA	0.557000													23	78					0	0	0.002780	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209515	44209515	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:44209515C>G	ENST00000260665.7	-	2	265	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	LRPPRC_ENST00000409946.1_Missense_Mutation_p.E70Q|LRPPRC_ENST00000409659.1_Missense_Mutation_p.E70Q	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	70					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGGACTCCTCTTGAATATCT	0.383000													3	67					0	0	0.004672	0	0
CCNB3	85417	broad.mit.edu	37	X	50089707	50089707	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:50089707G>A	ENST00000376042.1	+	10	4009	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	CCNB3_ENST00000376038.1_Silent_p.Q133Q|CCNB3_ENST00000348603.2_Silent_p.Q133Q|CCNB3_ENST00000276014.7_Silent_p.Q1237Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1237					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAATTATCAGCGATCTGAGG	0.473000													23	75					0	0	0.002780	0	0
TTF2	8458	broad.mit.edu	37	1	117624455	117624455	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:117624455G>A	ENST00000369466.3	+	10	1833	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	597	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTAGCAGATGATATGGGCTT	0.403000													8	43					0	0	0.004482	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026208	176026208	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:176026208C>T	ENST00000303991.4	-	2	805	c.628G>A	c.(628-630)Gat>Aat	p.D210N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	210						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCAAGATCTTCCTTTCTT	0.507000													7	82					0	0	0.003080	0	0
ZEB2	9839	broad.mit.edu	37	2	145147399	145147399	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:145147399C>T	ENST00000558170.2	-	10	4448	c.3264G>A	c.(3262-3264)cgG>cgA	p.R1088R	ZEB2_ENST00000539609.3_Silent_p.R1064R|ZEB2_ENST00000409487.3_Silent_p.R1088R|ZEB2_ENST00000303660.4_Silent_p.R1088R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1088	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCGCCGCTTCCCGCTCCTCCG	0.592000													8	68					0	0	0.000443	0	0
ATRX	546	broad.mit.edu	37	X	76938634	76938634	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:76938634T>C	ENST00000373344.5	-	9	2328	c.2114A>G	c.(2113-2115)gAc>gGc	p.D705G	ATRX_ENST00000395603.3_Missense_Mutation_p.D667G|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	705					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATAGCACTGTCAGAAGAATT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						33	258					0	0	0.002096	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220355610	220355610	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:220355610G>C	ENST00000358951.2	-	21	2415	c.2299C>G	c.(2299-2301)Cag>Gag	p.Q767E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	767					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACAACAGCTGAGGGCTAAGA	0.408000													14	93					0	0	0.004007	0	0
NBPF1	55672	broad.mit.edu	37	1	16907918	16907918	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:16907918G>T	ENST00000430580.2	-	15	2263	c.1376C>A	c.(1375-1377)cCc>cAc	p.P459H		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTGTTACCTGGGGGCAGATGA	0.433000													9	528					0.000978159	0.00187802	0.000978	1	0
NLGN1	22871	broad.mit.edu	37	3	173322659	173322659	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173322659G>T	ENST00000457714.1	+	3	700	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	NLGN1_ENST00000545397.1_Missense_Mutation_p.G91W|NLGN1_ENST00000361589.4_Missense_Mutation_p.G91W|NLGN1_ENST00000401917.3_Missense_Mutation_p.G91W	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	91					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCACCAACAGGGGAACGTCG	0.448000													62	136					1.07796e-43	2.69258e-43	0.003610	1	0
FAM154A	158297	broad.mit.edu	37	9	18928826	18928826	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:18928826C>T	ENST00000380534.4	-	4	928	c.649G>A	c.(649-651)Gag>Aag	p.E217K	FAM154A_ENST00000542071.1_Missense_Mutation_p.E25K|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	217										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGCGCTTCTCCACGGGGTGG	0.512000													9	51					0	0	0.004482	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402328	26402328	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:26402328G>T	ENST00000381655.2	+	28	2894	c.2752G>T	c.(2752-2754)Gtg>Ttg	p.V918L	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	878					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTGTACAATGTGGTAAGCAT	0.398000													26	127					1.33986e-20	3.28585e-20	0.004656	1	0
NMNAT2	23057	broad.mit.edu	37	1	183230439	183230439	+	Splice_Site	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:183230439C>G	ENST00000287713.6	-	9	986		c.e9-1		NMNAT2_ENST00000294868.4_Splice_Site	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCACCTCCATCTAAAGAAACA	0.498000													20	35					0	0	0.001523	0	0
LEFTY1	10637	broad.mit.edu	37	1	226076549	226076549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:226076549G>C	ENST00000272134.5	-	1	297	c.218C>G	c.(217-219)tCc>tGc	p.S73C	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	73					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTTTCCGCGGGAGCGGTCCCC	0.692000													12	31					0	0	0.001368	0	0
MS4A14	84689	broad.mit.edu	37	11	60170499	60170499	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:60170499G>C	ENST00000300187.6	+	4	710	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	MS4A14_ENST00000531783.1_Missense_Mutation_p.E145Q|MS4A14_ENST00000395001.1_Missense_Mutation_p.E33Q|MS4A14_ENST00000395005.2_Missense_Mutation_p.E128Q|MS4A14_ENST00000531787.1_Missense_Mutation_p.E33Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	145						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCCATCCTTTGAAGAAATATG	0.388000													5	119					0	0	0.001984	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281750	41281750	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:41281750C>T	ENST00000600729.1	+	3	643	c.221C>T	c.(220-222)tCc>tTc	p.S74F	MIA_ENST00000263369.3_Missense_Mutation_p.S74F|MIA_ENST00000597784.1_Missense_Mutation_p.S74F|MIA_ENST00000594436.1_Missense_Mutation_p.S74F																							TATGTCTTCTCCAAGCTGAAG	0.592000													11	47					0	0	0.000978	0	0
PPP2R5E	5529	broad.mit.edu	37	14	64006301	64006301	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:64006301G>C	ENST00000337537.3	-	2	705	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Q35E	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	35					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GACCTAAACTGTGAGGAACTT	0.463000													7	72					0	0	0.003080	0	0
TTF2	8458	broad.mit.edu	37	1	117637947	117637947	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:117637947C>G	ENST00000369466.3	+	19	3037	c.2993C>G	c.(2992-2994)gCa>gGa	p.A998G		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	998	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTCTGTTGGCAGAATTGGAG	0.393000													3	58					0	0	0.004672	0	0
SPRTN	83932	broad.mit.edu	37	1	231488530	231488530	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:231488530C>G	ENST00000295050.7	+	5	1229	c.893C>G	c.(892-894)tCt>tGt	p.S298C	SPRTN_ENST00000391858.4_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3			SprT-like N-terminal domain																		AGACCTAATTCTAAAATCAAG	0.353000													3	41					0	0	0.004672	0	0
MAP9	79884	broad.mit.edu	37	4	156289867	156289867	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:156289867T>A	ENST00000311277.4	-	5	842	c.579A>T	c.(577-579)ggA>ggT	p.G193G	MAP9_ENST00000379248.2_Silent_p.G120G|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Silent_p.G193G	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	193					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TATCTTCTAGTCCATCCTTCT	0.428000													15	78					0	0	0.002450	0	0
KCNV1	27012	broad.mit.edu	37	8	110984839	110984839	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110984839G>T	ENST00000524391.1	-	3	1671	c.639C>A	c.(637-639)ggC>ggA	p.G213G	KCNV1_ENST00000297404.1_Silent_p.G213G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	213						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGAGATGACGCCAAAGATAC	0.522000													25	32					2.39556e-15	5.73821e-15	0.002780	1	0
FCRL4	83417	broad.mit.edu	37	1	157545497	157545497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:157545497C>A	ENST00000271532.1	-	11	1588	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	485						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)				ACCTTATCCTCTAGAAGTGTC	0.458000													37	86					7.53189e-24	1.86013e-23	0.001706	1	0
USP35	57558	broad.mit.edu	37	11	77909074	77909074	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:77909074G>T	ENST00000529308.1	+	3	1027	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	256					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAATGATGACAGTGTGAC	0.597000													7	116					0.000274275	0.000534211	0.004482	1	0
MAPK8	5599	broad.mit.edu	37	10	49633957	49633957	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:49633957G>C	ENST00000374189.1	+	8	896	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	MAPK8_ENST00000360332.3_Missense_Mutation_p.E239Q|MAPK8_ENST00000374182.3_Missense_Mutation_p.E239Q|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	239	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TAAAGTTATTGAACAGCTTGG	0.318000													3	39					0	0	0.004672	0	0
PRRX2	51450	broad.mit.edu	37	9	132482945	132482945	+	Missense_Mutation	SNP	C	C	T	rs144448846		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:132482945C>T	ENST00000372469.4	+	3	745	c.518C>T	c.(517-519)tCg>tTg	p.S173L		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	173						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CGCTCTGCCTCGCTGCTCAAG	0.662000													17	96					0	0	0.000743	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617387	77617387	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:77617387G>C	ENST00000521891.2	+	2	1512	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G355A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G355A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G355A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	355						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)			AACCTCATAGGACCCGATCCA	0.448000										HNSCC(33;0.089)			13	98					0	0	0.001368	0	0
LRP2	4036	broad.mit.edu	37	2	169989114	169989114	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:169989114G>A	ENST00000263816.3	-	77	13983	c.13698C>T	c.(13696-13698)aaC>aaT	p.N4566N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4566					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGAAGTTGGGTTTGTCTCTG	0.408000													23	66					0	0	0.004656	0	0
LRRK2	120892	broad.mit.edu	37	12	40697896	40697896	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:40697896G>C	ENST00000298910.7	+	27	3795	c.3737G>C	c.(3736-3738)aGa>aCa	p.R1246T	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1246T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1246					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTATGGTCTAGAGTAGAGAAA	0.343000													4	42					0	0	0.000248	0	0
DCTN2	10540	broad.mit.edu	37	12	57929539	57929539	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57929539C>T	ENST00000548249.1	-	3	462	c.195G>A	c.(193-195)aaG>aaA	p.K65K	DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000537439.1_Silent_p.K42K|DCTN2_ENST00000543672.1_Silent_p.K70K|DCTN2_ENST00000434715.3_Silent_p.K70K	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	65					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CACCAAGTCCCTTTGTCCCCA	0.498000													4	23					0	0	0.000248	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329558	88329558	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:88329558C>A	ENST00000325089.6	+	2	2134	c.1915C>A	c.(1915-1917)Cct>Act	p.P639T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P398T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	639						integral to membrane		p.P639T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGCCGTGACTCCTGCGGTCCG	0.622000													12	66					7.03913e-09	1.52355e-08	0.001368	1	0
RSBN1	54665	broad.mit.edu	37	1	114354824	114354824	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:114354824C>G	ENST00000261441.5	-	1	274	c.211G>C	c.(211-213)Gag>Cag	p.E71Q		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	71						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCCCCTCTTTGTCCGGC	0.652000													4	108					0	0	0.000248	0	0
SYNE1	23345	broad.mit.edu	37	6	152786534	152786534	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:152786534G>C	ENST00000367255.5	-	18	2392	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	SYNE1_ENST00000466159.2_Silent_p.L597L|SYNE1_ENST00000367248.3_Silent_p.L587L|SYNE1_ENST00000265368.4_Silent_p.L597L|SYNE1_ENST00000423061.1_Silent_p.L604L|SYNE1_ENST00000413186.2_Silent_p.L597L|SYNE1_ENST00000448038.1_Silent_p.L604L|SYNE1_ENST00000367253.4_Silent_p.L597L|SYNE1_ENST00000341594.5_Silent_p.L604L|SYNE1_ENST00000495090.2_Silent_p.L164L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	597					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTACTGAGAGATTCCTCC	0.443000										HNSCC(10;0.0054)			8	41					0	0	0.004482	0	0
CTNS	1497	broad.mit.edu	37	17	3561357	3561357	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:3561357T>C	ENST00000046640.3	+	10	1333	c.740T>C	c.(739-741)tTc>tCc	p.F247S	CTNS_ENST00000441220.2_Missense_Mutation_p.F139S|CTNS_ENST00000381870.3_Missense_Mutation_p.F247S|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Missense_Mutation_p.F100S	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	247					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GCGTGGCTCTTCGCATTTGTC	0.622000													38	81					0	0	0.001485	0	0
RIPK4	54101	broad.mit.edu	37	21	43161808	43161808	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:43161808C>T	ENST00000352483.2	-	9	1753	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	RIPK4_ENST00000544709.1_Silent_p.G452G|RIPK4_ENST00000542057.1_Silent_p.G452G|RIPK4_ENST00000332512.3_Silent_p.G515G			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	515						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGACTCGTCCCCGTTCTGGG	0.647000													11	53					0	0	0.000978	0	0
ADPRH	141	broad.mit.edu	37	3	119306495	119306495	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:119306495G>T	ENST00000478399.1	+	4	2249	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	ADPRH_ENST00000357003.3_Missense_Mutation_p.V282F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.V282F|ADPRH_ENST00000478927.1_Missense_Mutation_p.V282F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	282					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTACGATGCTGTTCTTGCTGC	0.577000													16	50					4.7546e-09	1.03678e-08	0.004007	1	0
GTF2H4	2968	broad.mit.edu	37	6	30878470	30878470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30878470C>T	ENST00000259895.4	+	5	626	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	GTF2H4_ENST00000376316.2_Nonsense_Mutation_p.Q135*|GTF2H4_ENST00000539324.1_Nonsense_Mutation_p.Q79*	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	135					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGACACAAGTCAGCTGGGACC	0.592000								Nucleotide excision repair (NER)					4	21					0	0	0.000602	0	0
C1orf173	127254	broad.mit.edu	37	1	75037379	75037379	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:75037379C>G	ENST00000326665.5	-	14	4233	c.4015G>C	c.(4015-4017)Gct>Cct	p.A1339P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1339	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						ACTTCCACAGCCACAACCCTT	0.557000													29	84					0	0	0.001271	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025215	172025215	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:172025215A>T	ENST00000336824.4	+	10	1223	c.1124A>T	c.(1123-1125)cAc>cTc	p.H375L	FNDC3B_ENST00000415807.2_Missense_Mutation_p.H375L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.H375L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	375						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCACCACCCACAGCTGTGCA	0.512000													23	80					0	0	0.002299	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212208	26212208	+	Missense_Mutation	SNP	C	C	A	rs138482118	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:26212208C>A	ENST00000379034.1	+	2	394	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	82	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TATTCAAAATCCGATGTGGCT	0.542000													22	70					1.96292e-10	4.40651e-10	0.001523	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90536023	90536023	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:90536023C>T	ENST00000602681.1	+	0	1927																											ACCTGAAACTCAGCACCCTGA	0.498000													9	331					0	0	0.004482	0	0
GNB2	2783	broad.mit.edu	37	7	100276365	100276365	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100276365G>A	ENST00000303210.4	+	10	1446	c.964G>A	c.(964-966)Gac>Aac	p.D322N	GNB2_ENST00000419828.1_Missense_Mutation_p.D222N|GNB2_ENST00000436220.1_Missense_Mutation_p.D278N|GNB2_ENST00000393926.1_Missense_Mutation_p.D322N|GNB2_ENST00000427895.1_Missense_Mutation_p.D222N|GNB2_ENST00000393924.1_Missense_Mutation_p.D322N|GNB2_ENST00000424361.1_Missense_Mutation_p.D278N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	322					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CGGGGTCACCGACGATGGCAT	0.657000													9	91					0	0	0.000443	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965082	88965082	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:88965082T>C	ENST00000333190.4	+	4	3395	c.2786T>C	c.(2785-2787)tTa>tCa	p.L929S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	929						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATCCTTTTAGAAAGAGTA	0.418000										HNSCC(36;0.09)			39	245					0	0	0.001287	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498346	73498346	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:73498346C>G	ENST00000321617.3	-	18	3395	c.2809G>C	c.(2809-2811)Gag>Cag	p.E937Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E855Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	937	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGTCCCCTCAGGGCCTGGC	0.701000													6	18					0	0	0.001168	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879705	125879705	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:125879705C>A	ENST00000393434.2	-	2	467	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D40Y|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D40Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D50Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D40Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	40	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCAGGGGGTCGGCCTTTCCA	0.597000													18	102					1.01871e-10	2.29276e-10	0.001216	1	0
TRDV1	28518	broad.mit.edu	37	14	22564625	22564625	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:22564625C>T	ENST00000390452.2	+	0	94																											GAAGGTTACTCAAGCCCAGTC	0.403000													26	165					0	0	0.005443	0	0
DDX20	11218	broad.mit.edu	37	1	112304903	112304903	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:112304903G>C	ENST00000369702.4	+	8	1668	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	350	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCGTCTTGATGCTATGGC	0.353000													4	90					0	0	0.000248	0	0
IGSF1	3547	broad.mit.edu	37	X	130417184	130417184	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:130417184C>A	ENST00000370904.1	-	12	1605	c.695G>T	c.(694-696)gGa>gTa	p.G232V	IGSF1_ENST00000370903.3_Missense_Mutation_p.G241V|IGSF1_ENST00000361420.3_Missense_Mutation_p.G241V|IGSF1_ENST00000370910.1_Missense_Mutation_p.G232V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	241	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGCTTTCTCCAGGTGCCAT	0.478000													17	52					1.99824e-07	4.22064e-07	0.004990	1	0
OR8A1	390275	broad.mit.edu	37	11	124440565	124440565	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:124440565A>T	ENST00000284287.3	+	1	673	c.601A>T	c.(601-603)Atg>Ttg	p.M201L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCCTCTCATGAAGCTGTC	0.448000													22	76					0	0	0.001882	0	0
AMER1	139285	broad.mit.edu	37	X	63412059	63412059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:63412059C>A	ENST00000330258.3	-	2	1380	c.1108G>T	c.(1108-1110)Gag>Tag	p.E370*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.E370*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.E370*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.E370fs*8(2)									GCCATCTCCTCCCCACCTCCT	0.542000													16	110					4.7546e-09	1.03678e-08	0.004007	1	0
TNXB	7148	broad.mit.edu	37	6	32035750	32035750	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:32035750C>G	ENST00000375244.3	-	18	6433	c.6232G>C	c.(6232-6234)Gag>Cag	p.E2078Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2078Q			P22105	TENX_HUMAN	tenascin XB	2155	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGGGGTCTCTTCCTCTGCA	0.632000													12	39					0	0	0.000978	0	0
KLHL1	57626	broad.mit.edu	37	13	70456497	70456497	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:70456497C>A	ENST00000377844.4	-	5	1904	c.1145G>T	c.(1144-1146)tGg>tTg	p.W382L	KLHL1_ENST00000545028.1_Missense_Mutation_p.W189L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	382					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATACTTGACCCACATCATCAA	0.453000													10	45					0.000442599	0.000856344	0.000443	1	0
PCLO	27445	broad.mit.edu	37	7	82581261	82581261	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:82581261C>T	ENST00000423517.2	-	5	9345	c.9008G>A	c.(9007-9009)gGa>gAa	p.G3003E	PCLO_ENST00000333891.8_Missense_Mutation_p.G3003E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2934					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAAAAATGTCCAGCTTCTGC	0.408000													13	253					0	0	0.001368	0	0
ITGAM	3684	broad.mit.edu	37	16	31308844	31308844	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31308844T>C	ENST00000544665.3	+	13	1437	c.1366T>C	c.(1366-1368)Tac>Cac	p.Y456H	ITGAM_ENST00000287497.8_Missense_Mutation_p.Y456H	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	456					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GATCGGCGCCTACTTCGGGGC	0.587000													35	162					0	0	0.005524	0	0
PEX14	5195	broad.mit.edu	37	1	10659315	10659315	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:10659315G>A	ENST00000356607.4	+	4	270	c.190G>A	c.(190-192)Gat>Aat	p.D64N	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	64					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGAAGAGATTGATATGGCCTT	0.542000													11	94					0	0	0.000978	0	0
ZHX3	23051	broad.mit.edu	37	20	39832463	39832463	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:39832463G>C	ENST00000309060.3	-	4	1509	c.1094C>G	c.(1093-1095)cCt>cGt	p.P365R	ZHX3_ENST00000544979.2_Missense_Mutation_p.P365R|ZHX3_ENST00000432768.2_Missense_Mutation_p.P365R|ZHX3_ENST00000560361.1_Missense_Mutation_p.P365R|ZHX3_ENST00000559234.1_Missense_Mutation_p.P365R|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.P365R|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	365	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AATCTCCTCAGGGGACCAGCT	0.517000													16	54					0	0	0.004007	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897018	105897018	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:105897018G>A	ENST00000393359.2	-	6	1710	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	TGFBRAP1_ENST00000258449.1_Silent_p.L428L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	428					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GGTAGCTCATGAGGAAGCGTT	0.572000													18	80					0	0	0.000743	0	0
CD200R1	131450	broad.mit.edu	37	3	112648042	112648042	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:112648042A>C	ENST00000471858.1	-	3	678	c.446T>G	c.(445-447)gTg>gGg	p.V149G	CD200R1_ENST00000295863.4_Missense_Mutation_p.V127G|CD200R1_ENST00000440122.2_Missense_Mutation_p.V172G|CD200R1_ENST00000308611.3_Missense_Mutation_p.V172G|CD200R1_ENST00000490004.1_Missense_Mutation_p.V149G	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	149	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.V172A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTTACCTAACACTTGGAGGTG	0.418000													8	93					0	0	0.004482	0	0
SLC15A4	121260	broad.mit.edu	37	12	129283841	129283841	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:129283841G>C	ENST00000266771.5	-	7	1575	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	SLC15A4_ENST00000544112.1_Missense_Mutation_p.I175M|SLC15A4_ENST00000545031.1_Missense_Mutation_p.I29M	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	512					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CGATGGCTTTGATAGACACCA	0.547000													16	57					0	0	0.000743	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961727	26961727	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:26961727G>A	ENST00000528896.2	-	16	2952	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R817C|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R817C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	960						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTGCCCGGCGCATGGGTGTG	0.527000													7	109					0	0	0.003080	0	0
CILP	8483	broad.mit.edu	37	15	65497636	65497636	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:65497636T>A	ENST00000261883.4	-	5	759	c.593A>T	c.(592-594)cAg>cTg	p.Q198L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	198	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACAGTCCTGGCCCATGCA	0.592000													19	96					0	0	0.001216	0	0
CCHCR1	54535	broad.mit.edu	37	6	31112662	31112662	+	Splice_Site	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:31112662C>G	ENST00000396268.3	-	14	2253	c.2065_splice	c.e14+1	p.A689_splice	CCHCR1_ENST00000396263.2_Splice_Site_p.A547_splice|CCHCR1_ENST00000376266.5_Splice_Site_p.A600_splice|CCHCR1_ENST00000451521.2_Splice_Site_p.A653_splice	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	600					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCTCGACACCTTGCCCGTAG	0.627000													26	121					0	0	0.003954	0	0
RUVBL2	10856	broad.mit.edu	37	19	49514288	49514288	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49514288G>C	ENST00000413176.2	+	10	1833	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	RUVBL2_ENST00000601968.1_Missense_Mutation_p.E229Q|RUVBL2_ENST00000595090.1_Missense_Mutation_p.E274Q			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	274					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGAAGTCCGTGAGCAGATCAA	0.627000													7	52					0	0	0.000443	0	0
MEOX2	4223	broad.mit.edu	37	7	15725621	15725621	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:15725621G>C	ENST00000262041.5	-	1	816	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	136					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S136F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGGGTGCTGGAGCCCAAGCT	0.716000													8	68					0	0	0.003080	0	0
LTBP1	4052	broad.mit.edu	37	2	33482491	33482491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:33482491C>T	ENST00000404816.2	+	12	2661	c.2308C>T	c.(2308-2310)Cat>Tat	p.H770Y	LTBP1_ENST00000390003.4_Missense_Mutation_p.H444Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.H444Y|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.H770Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H444Y|LTBP1_ENST00000404525.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	770					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAAAGTACTCATCCTCCACC	0.547000													11	43					0	0	0.000978	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490534	25490534	+	RNA	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:25490534C>A	ENST00000453082.2	+	0	2685					NR_003343.1																						AGCTCAGACCCTCCGTGGCAC	0.612000													6	50					8.12818e-05	0.000160275	0.001984	1	0
SPACA4	171169	broad.mit.edu	37	19	49110596	49110596	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49110596C>G	ENST00000321762.1	+	1	597	c.361C>G	c.(361-363)Cca>Gca	p.P121A	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	121					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GCTGCTTCCTCCACGTTTGCT	0.637000													5	4					0	0	0.000602	0	0
SBSN	374897	broad.mit.edu	37	19	36018830	36018830	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:36018830C>T	ENST00000452271.2	-	1	382	c.354G>A	c.(352-354)ggG>ggA	p.G118G	SBSN_ENST00000518157.1_Silent_p.G118G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	118	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGTTGTTGACCCCATGGCCAA	0.572000													10	154					0	0	0.000443	0	0
ZNF563	147837	broad.mit.edu	37	19	12432114	12432114	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12432114G>C	ENST00000293725.5	-	3	368	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	ZNF563_ENST00000595977.1_Missense_Mutation_p.Q55E	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTTTGTACTGATCTTCAGTA	0.299000													3	27					0	0	0.000248	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981809	92981809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:92981809C>T	ENST00000268164.3	+	4	754	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.Q152*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	173					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CGGCTGTGGGCAGGAGATTGA	0.602000													5	40					0	0	0.000602	0	0
EZH1	2145	broad.mit.edu	37	17	40865279	40865279	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:40865279T>C	ENST00000428826.2	-	11	1273	c.1152A>G	c.(1150-1152)aaA>aaG	p.K384K	EZH1_ENST00000585893.1_Silent_p.K344K|EZH1_ENST00000590078.1_Silent_p.K314K|EZH1_ENST00000415827.2_Silent_p.K375K|EZH1_ENST00000592743.1_Silent_p.K384K|EZH1_ENST00000435174.1_Silent_p.K245K			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	384					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGTCTCCTTCTTTAGTCTCAG	0.527000													27	56					0	0	0.005443	0	0
PTPRD	5789	broad.mit.edu	37	9	8517884	8517884	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:8517884G>T	ENST00000381196.4	-	18	2050	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	PTPRD_ENST00000537002.1_Missense_Mutation_p.L500I|PTPRD_ENST00000540109.1_Missense_Mutation_p.L503I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L490I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L490I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L503I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L503I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L503I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L493I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L500I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L493I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	503	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACTTGAAAGGGGACCATCT	0.468000										TSP Lung(15;0.13)			15	44					5.35267e-07	1.12246e-06	0.000958	1	0
POM121L12	285877	broad.mit.edu	37	7	53103985	53103985	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:53103985G>T	ENST00000408890.4	+	1	637	c.621G>T	c.(619-621)agG>agT	p.R207S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	207										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTGGCAGGCGGAACCTGC	0.667000													17	53					2.39187e-15	5.73722e-15	0.001216	1	0
SYNE1	23345	broad.mit.edu	37	6	152826448	152826448	+	Silent	SNP	C	C	A	rs141368652		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:152826448C>A	ENST00000367255.5	-	9	1267	c.666G>T	c.(664-666)ccG>ccT	p.P222P	SYNE1_ENST00000466159.2_Silent_p.P222P|SYNE1_ENST00000367248.3_Silent_p.P229P|SYNE1_ENST00000265368.4_Silent_p.P222P|SYNE1_ENST00000423061.1_Silent_p.P229P|SYNE1_ENST00000413186.2_Silent_p.P222P|SYNE1_ENST00000448038.1_Silent_p.P229P|SYNE1_ENST00000367253.4_Silent_p.P222P|SYNE1_ENST00000341594.5_Silent_p.P222P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	222	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACCAATTCCGGTCGAATGG	0.448000										HNSCC(10;0.0054)			12	42					1.08611e-07	2.30239e-07	0.000978	1	0
ZNF808	388558	broad.mit.edu	37	19	53058026	53058026	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53058026A>G	ENST00000359798.4	+	5	2037	c.1857A>G	c.(1855-1857)ggA>ggG	p.G619G		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCATACTGGAGAGAAACCAT	0.398000													18	63					0	0	0.000743	0	0
SCN8A	6334	broad.mit.edu	37	12	52200604	52200604	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:52200604C>G	ENST00000354534.5	+	27	5512	c.5334C>G	c.(5332-5334)gaC>gaG	p.D1778E	SCN8A_ENST00000545061.1_Missense_Mutation_p.D1737E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1778					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAGTGCAGACCCTCTGAGTG	0.463000													15	134					0	0	0.004007	0	0
NALCN	259232	broad.mit.edu	37	13	101944439	101944439	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:101944439A>G	ENST00000251127.6	-	9	1030	c.949T>C	c.(949-951)Ttt>Ctt	p.F317L	NALCN_ENST00000376196.3_Missense_Mutation_p.F317L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	317						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGCAATAAACACGTTCTGA	0.403000													5	14					0	0	0.000602	0	0
CXCL13	10563	broad.mit.edu	37	4	78528901	78528901	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:78528901C>A	ENST00000286758.4	+	3	187	c.109C>A	c.(109-111)Caa>Aaa	p.Q37K		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	37					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TAGATGTGTCCAAGAGAGCTC	0.388000													17	70					1.01871e-10	2.29276e-10	0.001216	1	0
CSTF2T	23283	broad.mit.edu	37	10	53458085	53458085	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:53458085C>A	ENST00000331173.4	-	1	1270	c.1225G>T	c.(1225-1227)Ggt>Tgt	p.G409C	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	409	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCACCTCTACCATCCATAGGT	0.522000													25	115					2.12542e-12	4.94894e-12	0.001061	1	0
ZNF443	10224	broad.mit.edu	37	19	12542690	12542690	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12542690C>A	ENST00000301547.5	-	4	493	c.296G>T	c.(295-297)gGa>gTa	p.G99V	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	99					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGGACCTACTCCAGGAAGAGT	0.413000													9	51					5.68852e-11	1.28524e-10	0.004482	1	0
FGD1	2245	broad.mit.edu	37	X	54472808	54472808	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:54472808C>G	ENST00000375135.3	-	18	3353	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	874	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTCCCACCTCGAAGCCAATG	0.652000													4	40					0	0	0.000248	0	0
ALPK2	115701	broad.mit.edu	37	18	56202141	56202141	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:56202141T>A	ENST00000361673.3	-	5	5491	c.5278A>T	c.(5278-5280)Aaa>Taa	p.K1760*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1760							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTTCGAGTTTGGGCATCTTT	0.403000													17	118					0	0	0.004007	0	0
RS1	6247	broad.mit.edu	37	X	18660202	18660202	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18660202G>T	ENST00000379984.3	-	6	637	c.597C>A	c.(595-597)atC>atA	p.I199I	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	199	F5/8 type C.		I -> T (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GGATGAGGCGGATGAAGCGGG	0.617000													22	72					7.87624e-14	1.86621e-13	0.002780	1	0
ABAT	18	broad.mit.edu	37	16	8860098	8860098	+	Missense_Mutation	SNP	G	G	A	rs139121258	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:8860098G>A	ENST00000396600.2	+	9	1512	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ABAT_ENST00000569156.1_Missense_Mutation_p.E192K|ABAT_ENST00000425191.2_Missense_Mutation_p.E192K|ABAT_ENST00000567812.1_Missense_Mutation_p.E207K|ABAT_ENST00000268251.8_Missense_Mutation_p.E192K	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	192					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)	CTTCTCCCAGGAGGAGCTGGA	0.552000													9	26					0	0	0.000443	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32101646	32101646	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:32101646C>G	ENST00000375250.5	-	13	2091	c.1850G>C	c.(1849-1851)gGt>gCt	p.G617A	ARHGAP12_ENST00000344936.2_Missense_Mutation_p.G647A|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.G595A|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.G595A|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.G642A|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	647					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTTAATATAACCTTTTTCACG	0.308000													6	47					0	0	0.003080	0	0
MUC7	4589	broad.mit.edu	37	4	71347573	71347573	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:71347573T>C	ENST00000413702.1	+	4	1400	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	MUC7_ENST00000304887.5_Missense_Mutation_p.I371T|MUC7_ENST00000456088.1_Missense_Mutation_p.I371T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	371						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AACAGAATTATTGACGACATG	0.333000													12	46					0	0	0.000978	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531162	8531162	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:8531162G>A	ENST00000348943.3	+	8	789	c.557G>A	c.(556-558)aGt>aAt	p.S186N	HNRNPM_ENST00000325495.4_Missense_Mutation_p.S225N	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	225					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAAGTATTTAGTATGGCTGGT	0.403000													16	100					0	0	0.001523	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682885	38682885	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38682885G>A	ENST00000222345.6	+	17	5040	c.4531G>A	c.(4531-4533)Gag>Aag	p.E1511K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1511					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCCACCATCGAGGATGACCT	0.582000													16	41					0	0	0.000743	0	0
TPRX1	284355	broad.mit.edu	37	19	48305449	48305449	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:48305449G>C	ENST00000535759.1	-	4	1109	c.1110C>G	c.(1108-1110)gcC>gcG	p.A370A	TPRX1_ENST00000543508.1_Silent_p.A263A|TPRX1_ENST00000322175.3_Silent_p.A273A			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	273						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)		CTGGGATCTGGGCTGGGCTGG	0.637000													4	18					0	0	0.000602	0	0
GSPT2	23708	broad.mit.edu	37	X	51488376	51488376	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:51488376G>T	ENST00000340438.4	+	1	1896	c.1654G>T	c.(1654-1656)Gtt>Ttt	p.V552F		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	552					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TATTGAGGAAGTTGAGATAAC	0.418000													31	91					1.88708e-17	4.57024e-17	0.001512	1	0
MSTN	2660	broad.mit.edu	37	2	190926956	190926956	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:190926956T>C	ENST00000260950.4	-	1	499	c.367A>G	c.(367-369)Aca>Gca	p.T123A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	123					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTACACTCTGTAGGCATGGTA	0.398000													25	54					0	0	0.003954	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507579	74507579	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:74507579C>A	ENST00000354431.4	-	7	1227	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D346Y	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	346								p.D346Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAACTGGTATCCAATTTTTCA	0.308000													12	39					4.36969e-10	9.75935e-10	0.001855	1	0
UBIAD1	29914	broad.mit.edu	37	1	11334044	11334044	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:11334044G>C	ENST00000376810.5	+	1	782	c.456G>C	c.(454-456)ctG>ctC	p.L152L	UBIAD1_ENST00000376804.2_Silent_p.L152L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	152					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCTACTACCTGTCCCCTCTGA	0.557000													8	57					0	0	0.000443	0	0
TLR8	51311	broad.mit.edu	37	X	12937728	12937728	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:12937728C>A	ENST00000218032.6	+	2	656	c.569C>A	c.(568-570)aCt>aAt	p.T190N	TLR8_ENST00000311912.5_Missense_Mutation_p.T208N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	190					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGCGAGAAAACTAACATAGAA	0.358000													27	75					7.92952e-12	1.81736e-11	0.003954	1	0
SMCO3	440087	broad.mit.edu	37	12	14959575	14959575	+	Silent	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:14959575T>G	ENST00000316048.2	-	2	112	c.40A>C	c.(40-42)Agg>Cgg	p.R14R	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TCTTCCCGCCTTTTTGGGTTC	0.378000													4	139					0	0	0.000602	0	0
FAM65B	9750	broad.mit.edu	37	6	24843287	24843287	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:24843287C>G	ENST00000259698.4	-	14	1898	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	FAM65B_ENST00000510784.2_Missense_Mutation_p.E559Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E525Q|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.E525Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E554Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	575					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ATTGGCACCTCTGCAGATGTG	0.522000													21	216					0	0	0.001882	0	0
SPTB	6710	broad.mit.edu	37	14	65261194	65261194	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:65261194C>T	ENST00000389722.3	-	12	1839	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	SPTB_ENST00000389721.5_Missense_Mutation_p.E596K|SPTB_ENST00000389720.3_Missense_Mutation_p.E596K|SPTB_ENST00000542895.1_Missense_Mutation_p.E596K|SPTB_ENST00000556626.1_Missense_Mutation_p.E596K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	596					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTTCCCCTCGGTGAACTTC	0.532000													17	154					0	0	0.004007	0	0
MYH1	4619	broad.mit.edu	37	17	10406202	10406202	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:10406202A>G	ENST00000226207.5	-	24	3058	c.2964T>C	c.(2962-2964)ggT>ggC	p.G988G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	988						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTCATCCAGACCCGCCATCT	0.507000													30	148					0	0	0.002445	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435451	7435451	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:7435451C>T	ENST00000319098.4	-	1	1249	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	386					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCGTCCCACTCTGGGGACGGC	0.602000													21	42					0	0	0.001216	0	0
TTC37	9652	broad.mit.edu	37	5	94842665	94842665	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:94842665G>A	ENST00000358746.2	-	30	3363	c.3065C>T	c.(3064-3066)gCa>gTa	p.A1022V	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1022							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATTTCTTATTGCAACATTGTA	0.323000													10	56					0	0	0.001368	0	0
ABCD4	5826	broad.mit.edu	37	14	74759945	74759945	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:74759945C>A	ENST00000356924.4	-	8	869	c.726G>T	c.(724-726)ggG>ggT	p.G242G	ABCD4_ENST00000298816.7_Silent_p.G138G|ABCD4_ENST00000557588.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	242	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCTCCACATGCCCAGCTCTGA	0.597000													14	72					2.32078e-09	5.118e-09	0.003163	1	0
KDELC1	79070	broad.mit.edu	37	13	103443611	103443611	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:103443611C>A	ENST00000376004.4	-	5	1178	c.842G>T	c.(841-843)gGc>gTc	p.G281V	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	281						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCTCACCGGCCCATGGTTTC	0.453000													60	259					1.83847e-13	4.32102e-13	0.003610	1	0
ANKLE2	23141	broad.mit.edu	37	12	133327233	133327233	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:133327233C>T	ENST00000539605.1	-	2	7341	c.657G>A	c.(655-657)ttG>ttA	p.L219L	ANKLE2_ENST00000357997.5_Silent_p.L281L|ANKLE2_ENST00000337516.5_Silent_p.L281L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	281						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)		ATTTACCTTTCAACCTGTCAT	0.423000													6	39					0	0	0.001984	0	0
KIAA1199	57214	broad.mit.edu	37	15	81225753	81225753	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:81225753C>G	ENST00000394685.3	+	23	3380	c.2961C>G	c.(2959-2961)atC>atG	p.I987M	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.I987M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.I987M			Q8WUJ3	K1199_HUMAN	KIAA1199	987										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACTGCATCAATGTTCCCG	0.572000													16	65					0	0	0.004990	0	0
YLPM1	56252	broad.mit.edu	37	14	75248679	75248679	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75248679C>A	ENST00000325680.7	+	4	2057	c.1933C>A	c.(1933-1935)Cag>Aag	p.Q645K	YLPM1_ENST00000552421.1_Missense_Mutation_p.Q645K|YLPM1_ENST00000238571.3_Missense_Mutation_p.Q450K	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATACCTCCTCAGTTAACAGC	0.547000													16	48					1.3612e-06	2.82736e-06	0.003163	1	0
SAMD11	148398	broad.mit.edu	37	1	871231	871231	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:871231T>A	ENST00000342066.3	+	5	468	c.385T>A	c.(385-387)Tgt>Agt	p.C129S		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	129				C -> L (in Ref. 2; AAH24295).		nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCAGAGCCGCTGTGAATTCCA	0.672000													24	70					0	0	0.002780	0	0
MYO7B	4648	broad.mit.edu	37	2	128335742	128335742	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:128335742C>T	ENST00000389524.4	+	9	937	c.884C>T	c.(883-885)gCc>gTc	p.A295V	MYO7B_ENST00000428314.1_Missense_Mutation_p.A295V|MYO7B_ENST00000409816.2_Missense_Mutation_p.A295V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCAACGACGCCAAGGACTAC	0.632000													10	20					0	0	0.000978	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798050	140798050	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140798050C>G	ENST00000398594.2	+	1	624	c.624C>G	c.(622-624)caC>caG	p.H208Q	PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGCTCACCACTTGGTAC	0.498000													20	41					0	0	0.001216	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128811	197128811	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:197128811G>C	ENST00000367405.4	-	10	2476	c.2408C>G	c.(2407-2409)tCt>tGt	p.S803C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TACTTCAGCAGATACATTCTG	0.428000													12	104					0	0	0.000978	0	0
LRG1	116844	broad.mit.edu	37	19	4538167	4538167	+	Missense_Mutation	SNP	C	C	G	rs112633064		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:4538167C>G	ENST00000306390.6	-	2	1289	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	277						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGCCCCTCGGGCACGCTG	0.642000													11	104					0	0	0.000978	0	0
PKD1	5310	broad.mit.edu	37	16	2159507	2159507	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:2159507G>A	ENST00000262304.4	-	15	5869	c.5661C>T	c.(5659-5661)atC>atT	p.I1887I	PKD1_ENST00000423118.1_Silent_p.I1887I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1887	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGGCCCACGATGGGCTCCT	0.652000													4	21					0	0	0.000248	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687295	68687295	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:68687295C>G	ENST00000361320.4	+	2	1199	c.621C>G	c.(619-621)ctC>ctG	p.L207L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	207						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGATCAGACTCAAAGAACTTC	0.458000													10	120					0	0	0.000443	0	0
ZNF761	388561	broad.mit.edu	37	19	53945743	53945743	+	RNA	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53945743A>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAGATCAGTAGCCAAGCTGG	0.428000													6	29					0	0	0.001168	0	0
ZNF479	90827	broad.mit.edu	37	7	57194383	57194383	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:57194383C>G	ENST00000331162.4	-	3	352	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCCATTCCTCCAGAGAGAAT	0.438000													17	64					0	0	0.000743	0	0
SLTM	79811	broad.mit.edu	37	15	59209166	59209166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:59209166C>G	ENST00000380516.2	-	3	370	c.283G>C	c.(283-285)Gat>Cat	p.D95H	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	95					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGAAGCATCTCCACTCAAC	0.323000													3	19					0	0	0.004672	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988380	36988380	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:36988380G>A	ENST00000518149.1	-	2	788	c.183C>T	c.(181-183)caC>caT	p.H61H	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Silent_p.H91H|NKX2-1_ENST00000522719.2_Silent_p.H61H|NKX2-1_ENST00000498187.2_Silent_p.H61H			P43699	NKX21_HUMAN	NK2 homeobox 1	61				H -> P (in Ref. 5; BAA23527/BAA23529).	epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGACGGCGCCGTGGTGCCCCA	0.746000			A		NSCLC								11	7					0	0	0.000673	0	0
IL5	3567	broad.mit.edu	37	5	131879137	131879137	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:131879137G>C	ENST00000231454.1	-	1	77	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	12					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	GCAGCTCCAAGAGCTAGCAAA	0.488000													6	94					0	0	0.001168	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156656	119156656	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:119156656G>A	ENST00000319172.5	-	6	1290	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	290						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGAGGGAGTTGAAGAGAACCT	0.448000													7	37					0	0	0.003080	0	0
ZFP42	132625	broad.mit.edu	37	4	188924519	188924519	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:188924519C>A	ENST00000326866.4	+	4	966	c.558C>A	c.(556-558)agC>agA	p.S186R	ZFP42_ENST00000509524.1_Missense_Mutation_p.S186R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	186					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACAGTCTGAGCGCAATCGCTT	0.493000													31	98					2.09667e-21	5.14903e-21	0.003755	1	0
USP33	23032	broad.mit.edu	37	1	78200086	78200086	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:78200086T>C	ENST00000370793.1	-	8	909	c.563A>G	c.(562-564)aAa>aGa	p.K188R	USP33_ENST00000357428.1_Missense_Mutation_p.K188R|USP33_ENST00000370794.3_Missense_Mutation_p.K157R|USP33_ENST00000370792.3_Missense_Mutation_p.K188R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	188					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCCAATATTTTTCAAACCTGT	0.264000													5	20					0	0	0.000602	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939088	6939088	+	RNA	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:6939088G>C	ENST00000251761.8	+	0	597				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CCATGCACCTGCAGATGCGGG	0.602000													28	95					0	0	0.001786	0	0
AHNAK	79026	broad.mit.edu	37	11	62293302	62293302	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:62293302C>T	ENST00000378024.4	-	5	8861	c.8587G>A	c.(8587-8589)Gat>Aat	p.D2863N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2863					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)				CCTTTCAGATCTCCCTCTACC	0.453000													16	165					0	0	0.004007	0	0
DCLK2	166614	broad.mit.edu	37	4	151000270	151000270	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:151000270T>C	ENST00000296550.7	+	1	845	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	DCLK2_ENST00000302176.8_Missense_Mutation_p.S31P|DCLK2_ENST00000506325.1_Missense_Mutation_p.S31P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	31					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCCCAGCTCCTCCGGGGGCAG	0.706000													9	13					0	0	0.004482	0	0
PDIA5	10954	broad.mit.edu	37	3	122811251	122811251	+	Silent	SNP	G	G	T	rs139086659	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122811251G>T	ENST00000316218.7	+	3	314	c.219G>T	c.(217-219)gcG>gcT	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					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)		TGGCCCAGGCGGTGAAAGGAC	0.527000													12	52					0.00010058	0.000197439	0.001368	1	0
PRKD1	5587	broad.mit.edu	37	14	30066890	30066890	+	Silent	SNP	G	G	A	rs147092748		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:30066890G>A	ENST00000331968.5	-	16	2470	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	PRKD1_ENST00000415220.2_Silent_p.P755P	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAGGTAAGCGGGGGTACCCA	0.488000													22	38					0	0	0.002780	0	0
FBN2	2201	broad.mit.edu	37	5	127686626	127686626	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127686626G>A	ENST00000508053.1	-	27	3720	c.2746C>T	c.(2746-2748)Ctg>Ttg	p.L916L	FBN2_ENST00000262464.4_Silent_p.L916L|FBN2_ENST00000508989.1_Silent_p.L883L			P35556	FBN2_HUMAN	fibrillin 2	916	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCAGATTTCAGAGTGGCTCCA	0.567000													6	68					0	0	0.003080	0	0
ASXL3	80816	broad.mit.edu	37	18	31323161	31323161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:31323161C>T	ENST00000269197.5	+	12	3349	c.3349C>T	c.(3349-3351)Cga>Tga	p.R1117*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCATCAAGCTCGAGCCCATCT	0.527000													7	36					0	0	0.003080	0	0
CXorf27	25763	broad.mit.edu	37	X	37850395	37850395	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:37850395T>A	ENST00000341016.3	+	1	326	c.303T>A	c.(301-303)gaT>gaA	p.D101E	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	101							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTGAGAGTGATGTGACTCGCT	0.527000													11	31					0	0	0.000673	0	0
RUFY2	55680	broad.mit.edu	37	10	70164518	70164518	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:70164518G>C	ENST00000388768.2	-	2	519	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	RUFY2_ENST00000399200.2_Missense_Mutation_p.L30V|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000342616.4_Missense_Mutation_p.L30V|RUFY2_ENST00000602465.1_Missense_Mutation_p.L30V|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	79						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CCAAAGCTCAGAGCAGATTCA	0.428000													8	38					0	0	0.003080	0	0
COL22A1	169044	broad.mit.edu	37	8	139729092	139729092	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139729092G>A	ENST00000303045.6	-	28	2822	c.2376C>T	c.(2374-2376)ggC>ggT	p.G792G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G792G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	792	Collagen-like 6.|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)			GGCCTGCCAGGCCCTGCTCCC	0.393000										HNSCC(7;0.00092)			13	47					0	0	0.002450	0	0
WASF3	10810	broad.mit.edu	37	13	27254257	27254257	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:27254257G>T	ENST00000361042.4	+	7	851	c.626G>T	c.(625-627)aGg>aTg	p.R209M	WASF3_ENST00000335327.5_Intron			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	208					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGGGAGAGAAGGAAAATGGGC	0.453000													9	26					7.48243e-07	1.56159e-06	0.000443	1	0
SPATA1	100505741	broad.mit.edu	37	1	84991680	84991680	+	RNA	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:84991680C>A	ENST00000370638.2	+	0	733									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		TAACTTTGTTCAAGGAGGAAC	0.373000													6	33					1.12685e-05	2.26795e-05	0.004482	1	0
MAGI2	9863	broad.mit.edu	37	7	77824251	77824251	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:77824251G>C	ENST00000354212.4	-	12	2462	c.2209C>G	c.(2209-2211)Cca>Gca	p.P737A	MAGI2_ENST00000419488.1_Missense_Mutation_p.P737A|MAGI2_ENST00000522391.1_Missense_Mutation_p.P737A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	737						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCTTCCGTGGGTCAAAGGCC	0.488000													11	59					0	0	0.000978	0	0
HMGCL	3155	broad.mit.edu	37	1	24137224	24137224	+	Splice_Site	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:24137224A>C	ENST00000374483.4	-	7	1158		c.e7+1		HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000509389.1_Intron			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACATGCACACACCTCAGCTAC	0.582000											OREG0013233	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	0.001168	0	0
DNM2	1785	broad.mit.edu	37	19	10893674	10893674	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:10893674G>C	ENST00000314646.5	+	6	891	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	DNM2_ENST00000585892.1_Missense_Mutation_p.E243Q|DNM2_ENST00000389253.4_Missense_Mutation_p.E243Q|DNM2_ENST00000359692.6_Missense_Mutation_p.E243Q|DNM2_ENST00000408974.4_Missense_Mutation_p.E243Q|DNM2_ENST00000355667.6_Missense_Mutation_p.E243Q			P50570	DYN2_HUMAN	dynamin 2	243					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGATATTGAGGGCAAGAA	0.622000			"""F, N, Splice, Mis, O"""		ETP ALL								6	57					0	0	0.001168	0	0
OR2T3	343173	broad.mit.edu	37	1	248637210	248637210	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248637210C>T	ENST00000359594.2	+	1	584	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGAGACTCCTGCCCTGCT	0.512000													91	205					0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36485276	36485276	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36485276C>A	ENST00000342292.4	-	11	4196	c.4176G>T	c.(4174-4176)ggG>ggT	p.G1392G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1392						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGCTGGTTTCCCATCCTCGC	0.557000													8	132					1.12685e-05	2.26795e-05	0.004482	1	0
NR3C2	4306	broad.mit.edu	37	4	149357050	149357050	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:149357050C>A	ENST00000355292.3	-	2	1325	c.963G>T	c.(961-963)acG>acT	p.T321T	NR3C2_ENST00000344721.4_Silent_p.T321T|NR3C2_ENST00000342437.4_Silent_p.T321T|NR3C2_ENST00000511528.1_Silent_p.T321T|NR3C2_ENST00000358102.3_Silent_p.T321T|NR3C2_ENST00000512865.1_Silent_p.T321T			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	321	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GACTGGAAAGCGTGGATCTGT	0.483000													16	75					0.000422831	0.000820818	0.004007	1	0
MAS1	4142	broad.mit.edu	37	6	160328648	160328648	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:160328648T>G	ENST00000252660.4	+	1	675	c.661T>G	c.(661-663)Tcc>Gcc	p.S221A		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	221					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CACGTGGGCTTCCCATTCCTC	0.483000													7	39					0	0	0.001984	0	0
HADHB	3032	broad.mit.edu	37	2	26502173	26502173	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:26502173C>T	ENST00000317799.5	+	9	905	c.801C>T	c.(799-801)ttC>ttT	p.F267F	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Silent_p.F245F|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Silent_p.F252F	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	267			Missing (in TFP deficiency).		fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTACCCTTCAAAGTACCAG	0.433000													6	71					0	0	0.001984	0	0
TMEM170A	124491	broad.mit.edu	37	16	75481557	75481557	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:75481557C>A	ENST00000357613.4	-	3	353	c.265G>T	c.(265-267)Gca>Tca	p.A89S	TMEM170A_ENST00000567796.1_Missense_Mutation_p.A67S|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000566980.1_Missense_Mutation_p.A44S|TMEM170A_ENST00000561878.1_Missense_Mutation_p.A112S|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000569540.1_Missense_Mutation_p.A74S			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	112						integral to membrane				endometrium(1)	1						TCCTTCCCTGCTGCTCGGTAA	0.398000													14	73					7.93312e-07	1.65368e-06	0.002450	1	0
TGFB1I1	7041	broad.mit.edu	37	16	31487345	31487345	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31487345C>G	ENST00000394863.3	+	8	857	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.L226V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.L226V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.L226V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	243	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GGTGACGGCTCTGGGCCGCGC	0.647000													15	52					0	0	0.003163	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196325	118196325	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:118196325A>T	ENST00000369230.3	+	2	298	c.152A>T	c.(151-153)aAg>aTg	p.K51M		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	51					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCCAGAGAAGATAAACACT	0.403000													13	82					0	0	0.003163	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659669	24659669	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:24659669C>G	ENST00000556387.1	-	9	2004	c.1971G>C	c.(1969-1971)aaG>aaC	p.K657N	TM9SF1_ENST00000524835.1_Missense_Mutation_p.K361N|TM9SF1_ENST00000530611.1_Missense_Mutation_p.K657N|TM9SF1_ENST00000396854.4_Missense_Mutation_p.K448N|TM9SF1_ENST00000261789.4_Missense_Mutation_p.K448N|TM9SF1_ENST00000528669.1_Missense_Mutation_p.K448N			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	448					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGGCGATGTTCTTGGTGCGAC	0.547000													19	58					0	0	0.000958	0	0
GCM1	8521	broad.mit.edu	37	6	52993189	52993189	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:52993189C>T	ENST00000259803.7	-	6	1337	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	376						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAGACTGGACGTAGCTGTTA	0.478000													14	165					0	0	0.002450	0	0
CACNA1C	775	broad.mit.edu	37	12	2602389	2602389	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:2602389C>T	ENST00000399655.1	+	7	1215	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CACNA1C_ENST00000335762.5_Missense_Mutation_p.A317V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A317V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A317V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A317V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	317					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCCCTTGTGCGCTGGAAACG	0.592000													19	75					0	0	0.001216	0	0
ZNF208	7757	broad.mit.edu	37	19	22155676	22155676	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:22155676G>C	ENST00000397126.4	-	4	2308	c.2160C>G	c.(2158-2160)ccC>ccG	p.P720P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTC	0.373000													16	77					0	0	0.004007	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768487	81768487	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:81768487G>T	ENST00000550584.2	-	10	1487	c.1192C>A	c.(1192-1194)Cag>Aag	p.Q398K	PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	324										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCATGGTCTGCTGCAACTTT	0.458000													24	58					2.21704e-12	5.14176e-12	0.002780	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765696	77765696	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:77765696C>G	ENST00000521891.2	+	10	6987	c.6539C>G	c.(6538-6540)aCg>aGg	p.T2180R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2135R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2154R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2135R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2164M(1)		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)			TTTAGAAATACGCTTTTTAAG	0.373000										HNSCC(33;0.089)			55	90					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11364946	11364946	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:11364946C>G	ENST00000304623.8	-	8	1423	c.1234G>C	c.(1234-1236)Gcc>Ccc	p.A412P	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A412P|CTNND2_ENST00000511377.1_Missense_Mutation_p.A321P|CTNND2_ENST00000503622.1_Missense_Mutation_p.A75P|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	412					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						GACTGCAGGGCCCGCAACTCT	0.582000													16	86					0	0	0.004007	0	0
C3AR1	719	broad.mit.edu	37	12	8211440	8211440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:8211440G>A	ENST00000307637.4	-	2	1545	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	448					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGAATGGACTGCCTTGCTTTC	0.458000													17	80					0	0	0.004990	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373115	86373115	+	Silent	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:86373115T>G	ENST00000604798.1	-	8	2593	c.1389A>C	c.(1387-1389)acA>acC	p.T463T	MGAT4C_ENST00000552808.2_Silent_p.T463T|MGAT4C_ENST00000549405.2_Silent_p.T463T|MGAT4C_ENST00000393205.2_Silent_p.T492T|MGAT4C_ENST00000548651.1_Silent_p.T463T|MGAT4C_ENST00000332156.1_Silent_p.T463T			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	463					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTCCTTTTGTGTTTTGGTGA	0.323000													6	28					0	0	0.001168	0	0
PTH2R	5746	broad.mit.edu	37	2	209308194	209308194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:209308194G>T	ENST00000272847.2	+	6	844	c.631G>T	c.(631-633)Gag>Tag	p.E211*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	211						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAGGAGCTGGAGTCCCTAAT	0.398000													12	51					4.36969e-10	9.75935e-10	0.001855	1	0
HDAC6	10013	broad.mit.edu	37	X	48672940	48672940	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48672940C>A	ENST00000334136.5	+	11	1078	c.900C>A	c.(898-900)ggC>ggA	p.G300G	HDAC6_ENST00000444343.2_Silent_p.G314G|HDAC6_ENST00000413163.2_Silent_p.G245G|HDAC6_ENST00000376619.2_Silent_p.G300G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	300	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCGGCCAAGGCCAAGGATATA	0.602000													11	56					1.33987e-11	3.05882e-11	0.000673	1	0
POLR3A	11128	broad.mit.edu	37	10	79784811	79784811	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:79784811G>A	ENST00000372371.3	-	4	545	c.408C>T	c.(406-408)taC>taT	p.Y136Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	136					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTTCTGAAGGTAGGTCAGGC	0.463000													18	83					0	0	0.000958	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711549	162711549	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:162711549T>C	ENST00000375514.5	+	6	806	c.519T>C	c.(517-519)ctT>ctC	p.L173L	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Silent_p.L162L|SLC4A10_ENST00000415876.2_Silent_p.L162L|SLC4A10_ENST00000421911.1_Silent_p.L162L|SLC4A10_ENST00000272716.5_Silent_p.L162L|SLC4A10_ENST00000446997.1_Silent_p.L162L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	162					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						TGGCTACTCTTTCATTGCACA	0.388000													7	50					0	0	0.003080	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531479	140531479	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140531479G>C	ENST00000231136.1	+	1	1641	c.1641G>C	c.(1639-1641)ttG>ttC	p.L547F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L411F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		547	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCGCTTGCTGGTGCTGG	0.706000													27	93					0	0	0.003954	0	0
COL21A1	81578	broad.mit.edu	37	6	56044743	56044743	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56044743G>A	ENST00000244728.5	-	3	670	c.273C>T	c.(271-273)ctC>ctT	p.L91L	COL21A1_ENST00000535941.1_Silent_p.L91L|COL21A1_ENST00000370819.1_Silent_p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	91	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATAGCTTCCGAGAGGAATCT	0.453000													4	14					0	0	0.001168	0	0
POU3F4	5456	broad.mit.edu	37	X	82763401	82763401	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:82763401G>A	ENST00000373200.2	+	1	133	c.69G>A	c.(67-69)gcG>gcA	p.A23A	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CGGACTCTGCGGGCATGCAGC	0.552000													5	34					0	0	0.001168	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413920	43413920	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:43413920C>G	ENST00000310826.5	-	3	468	c.285G>C	c.(283-285)gaG>gaC	p.E95D	ZBTB21_ENST00000398499.1_Missense_Mutation_p.E95D|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E95D|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E95D	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GGCTGCTCTTCTCAACAAATA	0.398000													6	31					0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21231102	21231102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:21231102G>A	ENST00000233242.1	-	26	8765	c.8638C>T	c.(8638-8640)Cag>Tag	p.Q2880*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2880					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGGTAAGCTGATTGTTTATC	0.408000													17	165					0	0	0.004990	0	0
OR4C11	219429	broad.mit.edu	37	11	55371370	55371370	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55371370C>A	ENST00000302231.4	-	1	504	c.480G>T	c.(478-480)ctG>ctT	p.L160L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATCTTAAGGCCAGGATAATCT	0.448000													20	65					2.39187e-15	5.73722e-15	0.001216	1	0
SH3RF3	344558	broad.mit.edu	37	2	109988086	109988086	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:109988086G>T	ENST00000309415.6	+	3	894	c.894G>T	c.(892-894)gcG>gcT	p.A298A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	298	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGAACTGGGCGGAAGGCATGC	0.577000													9	35					1.76689e-08	3.80545e-08	0.000443	1	0
MAGEC3	139081	broad.mit.edu	37	X	140926157	140926157	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:140926157G>T	ENST00000298296.1	+	1	56	c.56G>T	c.(55-57)gGc>gTc	p.G19V		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	19										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)					GGCAGTCTAGGCCAGTGGGTG	0.542000													18	63					4.96729e-08	1.05812e-07	0.001216	1	0
MOS	4342	broad.mit.edu	37	8	57026507	57026507	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:57026507C>A	ENST00000311923.1	-	1	34	c.35G>T	c.(34-36)cGg>cTg	p.R12L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	12							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAACTCGCTCCGGAGGTAGGG	0.677000													7	32					0.00307968	0.00578596	0.003080	1	0
EXT1	2131	broad.mit.edu	37	8	118849376	118849376	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:118849376C>A	ENST00000378204.2	-	2	1833	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	343					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGAAGGACCCAAGCCTGCGA	0.493000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				16	153					1.01871e-10	2.29276e-10	0.001216	1	0
RELN	5649	broad.mit.edu	37	7	103138678	103138678	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:103138678C>G	ENST00000424685.2	-	54	8848	c.8689G>C	c.(8689-8691)Gac>Cac	p.D2897H	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.D2897H|RELN_ENST00000343529.5_Missense_Mutation_p.D2897H			P78509	RELN_HUMAN	reelin	2897					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)		TCTTCACTGTCAAAGCGTTCC	0.373000													6	71					0	0	0.001168	0	0
HFM1	164045	broad.mit.edu	37	1	91782033	91782033	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:91782033C>A	ENST00000370425.3	-	26	2911	c.2812_splice	c.e26-1	p.G938_splice	HFM1_ENST00000370424.3_Splice_Site_p.G617_splice|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Splice_Site_p.G170_splice	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	938	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAATGTTATACCTGTGGAAAA	0.239000													9	48					1.12685e-05	2.26795e-05	0.004482	1	0
L1CAM	3897	broad.mit.edu	37	X	153132810	153132810	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153132810C>A	ENST00000370060.1	-	17	2327		c.e17+1		L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGACTCACCTGCCTCAGG	0.597000													9	110					1.12685e-05	2.26795e-05	0.004482	1	0
ENTHD1	150350	broad.mit.edu	37	22	40283410	40283410	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:40283410C>G	ENST00000325157.6	-	2	593	c.343G>C	c.(343-345)Gac>Cac	p.D115H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	115	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTACCTTGGTCTTTTCCAGCT	0.443000													4	72					0	0	0.000248	0	0
FAM194A	131831	broad.mit.edu	37	3	150421607	150421607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:150421607C>T	ENST00000295910.6	-	1	131	c.79G>A	c.(79-81)Gag>Aag	p.E27K	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_5'UTR	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	27	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctcctcctcctctaactcc	0.632000													8	34					0	0	0.003080	0	0
GPR179	440435	broad.mit.edu	37	17	36484372	36484372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484372C>A	ENST00000342292.4	-	11	5100	c.5080G>T	c.(5080-5082)Gag>Tag	p.E1694*	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1694						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGTTTTCCTCCACATCCAAA	0.557000													7	110					0.00307968	0.00578596	0.003080	1	0
C1orf173	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:75036823G>A	ENST00000326665.5	-	14	4789	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1524										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						GTTGTTGGGGGAAACATCTGC	0.512000													19	114					0	0	0.001523	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735663	55735663	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55735663A>T	ENST00000312345.2	-	1	327	c.277T>A	c.(277-279)Tgt>Agt	p.C93S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAAAAAACACATTTGTGTA	0.403000													10	59					0	0	0.000443	0	0
C1orf141	400757	broad.mit.edu	37	1	67558779	67558779	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:67558779G>C	ENST00000371007.2	-	8	1221	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	C1orf141_ENST00000371006.1_Nonsense_Mutation_p.S371*|C1orf141_ENST00000544837.1_Nonsense_Mutation_p.S371*	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	371										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AAAAGGCTTTGAGTAACATTT	0.318000													8	59					0	0	0.003080	0	0
NSUN6	221078	broad.mit.edu	37	10	18885189	18885189	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:18885189C>T	ENST00000377304.4	-	7	1143	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	242	S-adenosyl-L-methionine binding (By similarity).						methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGTGCTGCACACAAGTCTAG	0.388000													11	52					0	0	0.000978	0	0
ASXL3	80816	broad.mit.edu	37	18	31326042	31326042	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:31326042G>T	ENST00000269197.5	+	12	6230	c.6230G>T	c.(6229-6231)aGc>aTc	p.S2077I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2077					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGCATATGTAGCAATATAAAA	0.428000													13	77					2.32078e-09	5.118e-09	0.003163	1	0
POU6F1	5463	broad.mit.edu	37	12	51584173	51584173	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:51584173T>A	ENST00000389243.4	-	11	1702	c.763A>T	c.(763-765)Aag>Tag	p.K255*	POU6F1_ENST00000550824.1_Nonsense_Mutation_p.K255*|POU6F1_ENST00000333640.10_Nonsense_Mutation_p.K255*			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	255					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGTGGGTTCTTCTCAAAATAG	0.567000													24	115					0	0	0.003954	0	0
ITGA8	8516	broad.mit.edu	37	10	15686196	15686196	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:15686196G>A	ENST00000378076.3	-	13	1585	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	411					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCCTTGCCTGCAAAAGGCAC	0.393000													13	22					0	0	0.002450	0	0
LILRB2	10288	broad.mit.edu	37	19	54782234	54782234	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54782234C>G	ENST00000391748.1	-	7	1265	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	LILRB2_ENST00000434421.1_Missense_Mutation_p.E264Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.E380Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.E380Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.E380Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	380	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGGGAATTCAGCCTGGTAC	0.577000													26	188					0	0	0.003954	0	0
GBA	2629	broad.mit.edu	37	1	155209413	155209413	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:155209413C>T	ENST00000428024.2	-	3	689	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	GBA_ENST00000493842.1_5'UTR|GBA_ENST00000327247.5_Missense_Mutation_p.E150K|GBA_ENST00000427500.2_Intron|GBA_ENST00000536770.1_Intron|GBA_ENST00000368373.3_Missense_Mutation_p.E150K	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	150			D -> N (in GD1; very low activity).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCACCTTCTTCAGAGAAGTAC	0.428000									Gaucher disease type I				8	44					0	0	0.003080	0	0
FCGBP	8857	broad.mit.edu	37	19	40366446	40366446	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:40366446G>A	ENST00000221347.6	-	30	13795	c.13788C>T	c.(13786-13788)ttC>ttT	p.F4596F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4596	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGCGCACGAAGCTGTCCC	0.667000													12	96					0	0	0.001368	0	0
COL1A2	1278	broad.mit.edu	37	7	94052383	94052383	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:94052383C>A	ENST00000297268.6	+	40	2989	c.2518C>A	c.(2518-2520)Cct>Act	p.P840T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	840			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGTTGGTCCCCCTGGCTTCGC	0.527000										HNSCC(75;0.22)			72	105					1.03218e-28	2.57092e-28	0.003610	1	0
OR2G6	391211	broad.mit.edu	37	1	248685139	248685139	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248685139C>A	ENST00000343414.4	+	1	224	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCCTCAGCAACCTCTCGT	0.483000													33	63					6.50621e-10	1.44757e-09	0.002836	1	0
FAM160A2	84067	broad.mit.edu	37	11	6239802	6239802	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:6239802C>T	ENST00000265978.4	-	8	1821	c.1463G>A	c.(1462-1464)aGg>aAg	p.R488K	FAM160A2_ENST00000524416.1_Intron|FAM160A2_ENST00000449352.2_Intron	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	479					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGTCCTCCCTTCTCCCTGT	0.612000													38	92					0	0	0.001951	0	0
RPL6	6128	broad.mit.edu	37	12	112846080	112846080	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:112846080C>G	ENST00000424576.2	-	3	485	c.300G>C	c.(298-300)aaG>aaC	p.K100N	RPL6_ENST00000202773.9_Missense_Mutation_p.K100N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	100			K -> Q (in a colorectal cancer sample; somatic mutation).		endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TACCGCCGTTCTTGTCACCAC	0.413000													10	74					0	0	0.001368	0	0
MCF2L2	23101	broad.mit.edu	37	3	182937691	182937691	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:182937691G>C	ENST00000328913.3	-	21	2620	c.2323C>G	c.(2323-2325)Cct>Gct	p.P775A	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P775A	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	775	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATATCTTCAGGAGACTCGAAA	0.348000													12	188					0	0	0.001855	0	0
AGK	55750	broad.mit.edu	37	7	141315363	141315363	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141315363C>A	ENST00000355413.4	+	8	776	c.516C>A	c.(514-516)gtC>gtA	p.V172V	AGK_ENST00000535825.1_Silent_p.V169V|AGK_ENST00000473247.1_Silent_p.V144V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	172	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAAACAAAGTCCAGTAGGTTG	0.438000													18	153					5.01169e-05	9.97213e-05	0.004990	1	0
EIF3A	8661	broad.mit.edu	37	10	120809438	120809438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:120809438G>A	ENST00000369144.3	-	17	2660	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	EIF3A_ENST00000541549.1_Nonsense_Mutation_p.Q811*|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	845	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACCCGCTCCTGATACTCTCGT	0.493000													11	176					0	0	0.001368	0	0
GDF5	8200	broad.mit.edu	37	20	34022553	34022553	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:34022553C>G	ENST00000374372.1	-	4	1163	c.660G>C	c.(658-660)caG>caC	p.Q220H	GDF5_ENST00000374369.3_Missense_Mutation_p.Q220H|GDF5OS_ENST00000374375.1_Silent_p.L199L			P43026	GDF5_HUMAN	growth differentiation factor 5	220					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACACGTACCTCTGCTTCCTGA	0.612000													13	130					0	0	0.003163	0	0
PLCB4	5332	broad.mit.edu	37	20	9416221	9416221	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:9416221T>G	ENST00000378501.2	+	25	2518	c.2503T>G	c.(2503-2505)Tta>Gta	p.L835V	PLCB4_ENST00000334005.3_Missense_Mutation_p.L835V|PLCB4_ENST00000378473.3_Missense_Mutation_p.L847V|PLCB4_ENST00000278655.4_Missense_Mutation_p.L835V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L847V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.L835V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGTGGATGCTTTATCAGATCC	0.338000													11	65					0	0	0.001368	0	0
SHFM1	7979	broad.mit.edu	37	7	96318251	96318251	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:96318251C>G	ENST00000248566.2	-	3	325	c.198G>C	c.(196-198)aaG>aaC	p.K66N	SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron|SHFM1_ENST00000413065.1_Intron	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	66					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AAGTCTCCATCTTATAACCAT	0.333000								Homologous recombination					6	74					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127648347	127648347	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127648347T>A	ENST00000508053.1	-	43	5832	c.4858A>T	c.(4858-4860)Aca>Tca	p.T1620S	FBN2_ENST00000262464.4_Missense_Mutation_p.T1620S			P35556	FBN2_HUMAN	fibrillin 2	1620	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGGGCATGTCTCACAGGGG	0.512000													51	211					0	0	0.003610	0	0
DST	667	broad.mit.edu	37	6	56473360	56473360	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56473360G>A	ENST00000370754.5	-	39	5966	c.5967C>T	c.(5965-5967)agC>agT	p.S1989S	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Silent_p.S1811S|DST_ENST00000312431.6_Silent_p.S1811S|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Silent_p.S1485S|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.S1811S			Q03001	DYST_HUMAN	dystonin	1811					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)			TGAGGATACTGCTAGCAGTGT	0.448000													6	27					0	0	0.001984	0	0
VGLL3	389136	broad.mit.edu	37	3	87018032	87018032	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:87018032C>A	ENST00000398399.2	-	3	1008	c.645G>T	c.(643-645)gtG>gtT	p.V215V	VGLL3_ENST00000383698.3_Silent_p.V215V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGATGGGCTCACCTGAGATG	0.602000													17	34					7.07596e-05	0.000140158	0.000743	1	0
VWC2L	402117	broad.mit.edu	37	2	215301378	215301378	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:215301378G>C	ENST00000312504.5	+	3	1218	c.416G>C	c.(415-417)tGt>tCt	p.C139S	VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	139	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGGTGTCGCTGTGAGCCCAGC	0.448000													13	41					0	0	0.002450	0	0
NBEAP1	606	broad.mit.edu	37	15	20876530	20876530	+	RNA	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:20876530C>A	ENST00000556948.1	-	0	70																											ATGAGATAAACCATCAAGGTA	0.343000													7	64					0.00198382	0.00375531	0.001984	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													5	125					0	0	0.000602	0	0
HOXC11	3227	broad.mit.edu	37	12	54367536	54367536	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:54367536T>G	ENST00000546378.1	+	1	627	c.511T>G	c.(511-513)Tgc>Ggc	p.C171G	HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.C171G|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	171					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CGAGCCCCCCTGCTCCGGCAA	0.711000			T	NUP98	AML								6	38					0	0	0.001984	0	0
EIF2B2	8892	broad.mit.edu	37	14	75473335	75473335	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75473335G>C	ENST00000266126.5	+	6	829	c.749G>C	c.(748-750)gGa>gCa	p.G250A	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	250					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCTGTGACAGGAACTCACACT	0.527000													35	202					0	0	0.004289	0	0
NARF	26502	broad.mit.edu	37	17	80439061	80439061	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:80439061G>A	ENST00000390006.4	+	7	1040	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	NARF_ENST00000457415.3_Missense_Mutation_p.R294Q|NARF_ENST00000412079.2_Missense_Mutation_p.R120Q|NARF_ENST00000345415.7_Missense_Mutation_p.R200Q|NARF_ENST00000309794.10_Missense_Mutation_p.R248Q	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	248						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CATGGCTCCCGGGGCGCTGAC	0.587000													19	87					0	0	0.000743	0	0
IGFLR1	79713	broad.mit.edu	37	19	36231339	36231339	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:36231339C>T	ENST00000592537.1	-	3	384	c.284G>A	c.(283-285)gGa>gAa	p.G95E	IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G95E|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	95						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGTCACGGCTCCGCCGCCGCA	0.687000													8	28					0	0	0.000443	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222264	131222264	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:131222264G>C	ENST00000337057.3	-	7	1167	c.986C>G	c.(985-987)tCt>tGt	p.S329C	EPB41L2_ENST00000527659.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S329C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S329C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S329C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	329	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGTCACAAAAGAGCAGGGCAG	0.547000													13	78					0	0	0.001855	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28093331	28093331	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:28093331G>T	ENST00000340487.4	+	2	259	c.110G>T	c.(109-111)aGg>aTg	p.R37M	RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	37					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCTCACAGGAGGGAACTCTAT	0.532000													8	251					0.00448238	0.00839428	0.004482	1	0
RASGRF2	5924	broad.mit.edu	37	5	80376426	80376426	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:80376426G>C	ENST00000265080.4	+	7	1046	c.979G>C	c.(979-981)Gat>Cat	p.D327H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	327	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGATCTGTTTGATATTTTGCT	0.433000													11	64					0	0	0.000978	0	0
ACPT	93650	broad.mit.edu	37	19	51293713	51293713	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:51293713C>T	ENST00000270593.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ACPT_ENST00000270594.3_Silent_p.L14L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	14						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGACCTCTCctgctgctgc	0.711000													3	3					0	0	0.000248	0	0
ARHGAP6	395	broad.mit.edu	37	X	11272776	11272776	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:11272776C>G	ENST00000337414.4	-	2	1512	c.640G>C	c.(640-642)Gtc>Ctc	p.V214L	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V11L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V11L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V214L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V246L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V39L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V23L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	214					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGGATGGGGACTGACCTCAGC	0.488000													9	88					0	0	0.000443	0	0
TLE6	79816	broad.mit.edu	37	19	2987363	2987363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:2987363C>T	ENST00000246112.4	+	8	752	c.551C>T	c.(550-552)cCa>cTa	p.P184L	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.P61L	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	61					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GAGCAGGCACCAGGCCTGGTG	0.637000													5	74					0	0	0.000602	0	0
SOGA1	140710	broad.mit.edu	37	20	35441119	35441119	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:35441119G>A	ENST00000237536.4	-	6	2786	c.2445C>T	c.(2443-2445)tcC>tcT	p.S815S	SOGA1_ENST00000456801.2_Silent_p.S418S|SOGA1_ENST00000279034.5_Silent_p.S577S|SOGA1_ENST00000357779.3_Silent_p.S577S	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	577										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGAGGCATAGGAATCATTGT	0.562000													6	40					0	0	0.001168	0	0
RBMX	27316	broad.mit.edu	37	X	135961278	135961278	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:135961278G>A	ENST00000562646.1	-	3	268	c.114C>T	c.(112-114)ctC>ctT	p.L38L	RBMX_ENST00000431446.3_Silent_p.L38L|RBMX_ENST00000320676.7_Silent_p.L38L|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000570135.1_5'UTR			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	38	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTTCATCAAGAGTACTAAAA	0.378000													9	108					0	0	0.000443	0	0
WNK1	65125	broad.mit.edu	37	12	994586	994586	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:994586G>C	ENST00000537687.1	+	19	6039	c.5396G>C	c.(5395-5397)gGa>gCa	p.G1799A	WNK1_ENST00000315939.6_Missense_Mutation_p.G1539A|WNK1_ENST00000535572.1_Missense_Mutation_p.G1292A|WNK1_ENST00000530271.2_Missense_Mutation_p.G2037A|WNK1_ENST00000340908.4_Missense_Mutation_p.G1132A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1539			Q -> E (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation).		intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTACAACTGGATTGGCTTTC	0.473000													90	375					0	0	0.003610	0	0
DDR1	780	broad.mit.edu	37	6	30863278	30863278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30863278C>T	ENST00000361741.4	+	7	917	c.722C>T	c.(721-723)cCa>cTa	p.P241L	DDR1_ENST00000376569.3_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376575.3_Silent_p.P537P|DDR1_ENST00000376568.3_Silent_p.P537P|DDR1_ENST00000513240.1_Silent_p.P537P|DDR1_ENST00000452441.1_Silent_p.P537P|DDR1_ENST00000324771.8_Silent_p.P537P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	564					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGCCAAACCCACCAACACCC	0.677000													29	107					0	0	0.001061	0	0
MDC1	9656	broad.mit.edu	37	6	30673437	30673437	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30673437C>A	ENST00000376406.3	-	10	4170	c.3523G>T	c.(3523-3525)Gac>Tac	p.D1175Y	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.D911Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1175	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACAGGCTGGTCTGTGGAGGTG	0.552000								Other conserved DNA damage response genes					89	219					5.48297e-45	1.37153e-44	0.003610	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516518	140516518	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140516518C>G	ENST00000231134.5	+	1	1719	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTCGCCTCCCTGGTCTCC	0.657000													34	131					0	0	0.003755	0	0
CIT	11113	broad.mit.edu	37	12	120135524	120135524	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:120135524T>A	ENST00000392521.2	-	46	5877	c.5822A>T	c.(5821-5823)aAg>aTg	p.K1941M	CIT_ENST00000261833.7_Missense_Mutation_p.K1899M|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1899					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGTTTCCCTTGCAGCAAAT	0.582000													24	84					0	0	0.003330	0	0
HPGDS	27306	broad.mit.edu	37	4	95223375	95223375	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:95223375C>T	ENST00000295256.5	-	5	447	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	119	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TATACGTGAGCAGCTCATTGA	0.378000													45	163					0	0	0.003610	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340590	107340590	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:107340590C>T	ENST00000265715.3	+	15	1901	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Silent_p.V146V|SLC26A4_ENST00000543100.1_Silent_p.V128V|SLC26A4_ENST00000541474.1_Silent_p.V120V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	559	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATGGCAATGTCGATGGTTTTA	0.308000									Pendred syndrome				14	27					0	0	0.000958	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59946014	59946014	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:59946014G>A	ENST00000247194.4	-	2	677	c.564C>T	c.(562-564)ggC>ggT	p.G188G	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Silent_p.G17G	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		AAAATGCACCGCCATATGCAA	0.423000													12	47					0	0	0.002450	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673226	141673226	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141673226C>T	ENST00000547270.1	-	1	347	c.264G>A	c.(262-264)ctG>ctA	p.L88L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	88					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCTGTGGTTCAGTGGTTCAC	0.527000													12	140					0	0	0.003163	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059098	152059098	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152059098C>G	ENST00000368806.1	-	3	1124	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	354							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCATAATCCTCAGGTTCACCC	0.418000													33	265					0	0	0.002096	0	0
MGAT2	4247	broad.mit.edu	37	14	50088061	50088061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:50088061G>A	ENST00000305386.2	+	1	573	c.75G>A	c.(73-75)tgG>tgA	p.W25*	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	25					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCGTCCTCTGGAGCAGCAATG	0.692000													5	25					0	0	0.001168	0	0
TOX4	9878	broad.mit.edu	37	14	21960898	21960898	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:21960898T>G	ENST00000405508.1	+	8	1399	c.1123T>G	c.(1123-1125)Ttg>Gtg	p.L375V	TOX4_ENST00000448790.2_Missense_Mutation_p.L352V|TOX4_ENST00000262709.3_Missense_Mutation_p.L375V			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	375						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAAACAAATGTTGCCCTCTTC	0.493000													6	124					0	0	0.003080	0	0
MARS	4141	broad.mit.edu	37	12	57909800	57909800	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57909800C>T	ENST00000315473.5	+	18	2438	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCTGTGCCCTCGCTCCACAAC	0.498000													5	71					0	0	0.000602	0	0
ABCB1	5243	broad.mit.edu	37	7	87148655	87148655	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:87148655C>G	ENST00000265724.3	-	24	3331	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.E908Q|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	972	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAACATCCTCAAAGCTCATG	0.393000													7	72					0	0	0.001984	0	0
ATP7A	538	broad.mit.edu	37	X	77271303	77271303	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:77271303G>T	ENST00000341514.6	+	12	2706	c.2551G>T	c.(2551-2553)Gtt>Ttt	p.V851F	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V773F	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	851					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CATTAAAGTAGTTCCAGGAGG	0.393000													13	159					9.31168e-06	1.8915e-05	0.001855	1	0
ZNF587B	100293516	broad.mit.edu	37	19	58331296	58331296	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:58331296C>A	ENST00000316462.4	+	1	198	c.16C>A	c.(16-18)Ccg>Acg	p.P6T	ZNF586_ENST00000599802.1_3'UTR|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.P6T			B4DR41	B4DR41_HUMAN	zinc finger protein 587B	7					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TGCGGCTGCGCCGAGGCGCCC	0.647000													3	6					0.004672	0.00874003	0.004672	1	0
AXDND1	126859	broad.mit.edu	37	1	179398721	179398721	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:179398721C>T	ENST00000367618.3	+	13	1686	c.1299C>T	c.(1297-1299)taC>taT	p.Y433Y	AXDND1_ENST00000457238.2_Silent_p.Y433Y|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	433										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAATAAATACACTAAGCATT	0.333000													6	39					0	0	0.003080	0	0
SATL1	340562	broad.mit.edu	37	X	84362472	84362472	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:84362472C>T	ENST00000509231.1	-	1	1582	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	SATL1_ENST00000395409.3_Silent_p.L314L|SATL1_ENST00000332921.5_Silent_p.L314L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	314	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCAGCACTAATT	0.547000													9	81					0	0	0.004482	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969076	47969076	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:47969076C>T	ENST00000236877.6	-	2	980	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	195					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGAAGACTCTCAGGTGCTTGA	0.552000													6	31					0	0	0.001168	0	0
ATR	545	broad.mit.edu	37	3	142224127	142224127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:142224127G>C	ENST00000350721.4	-	29	5171	c.5050C>G	c.(5050-5052)Cat>Gat	p.H1684D	ATR_ENST00000383101.3_Missense_Mutation_p.H1620D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1684	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAGGTTCATGCATAGCAGCA	0.363000								Other conserved DNA damage response genes					16	215					0	0	0.004990	0	0
KCNC1	3746	broad.mit.edu	37	11	17793800	17793800	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:17793800A>T	ENST00000379472.3	+	2	1189	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	KCNC1_ENST00000265969.6_Missense_Mutation_p.I387F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	387						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTTTAAGAACATCCCCATCGG	0.612000													24	57					0	0	0.004656	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12924254	12924254	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12924254G>T	ENST00000221486.4	+	8	968	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	292					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CCTGGAACGCGGCCTGGAGTC	0.542000													7	48					0.00198382	0.00375531	0.001984	1	0
TRIM42	287015	broad.mit.edu	37	3	140397246	140397246	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:140397246G>C	ENST00000286349.3	+	1	366	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	59	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACCTGTTCTGAGAGCCCCAA	0.537000													7	105					0	0	0.003080	0	0
MMRN1	22915	broad.mit.edu	37	4	90857200	90857200	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:90857200T>G	ENST00000394980.1	+	7	2688	c.2369T>G	c.(2368-2370)gTc>gGc	p.V790G	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.V790G|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532G			Q13201	MMRN1_HUMAN	multimerin 1	790					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)		CAGACTTTGGTCAATGACAAT	0.378000													7	58					0	0	0.004482	0	0
MED7	9443	broad.mit.edu	37	5	156566373	156566373	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:156566373C>T	ENST00000286317.5	-	2	451	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	MED7_ENST00000420343.1_Missense_Mutation_p.E24K	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	24					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAATATTTTCATCCGTATAT	0.433000													14	56					0	0	0.004007	0	0
SEC23IP	11196	broad.mit.edu	37	10	121689212	121689212	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:121689212G>C	ENST00000369075.3	+	14	2479	c.2407G>C	c.(2407-2409)Gat>Cat	p.D803H	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D592H|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	803	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCGAGGAGTTGATAGGATAGA	0.353000													4	115					0	0	0.000248	0	0
CHML	1122	broad.mit.edu	37	1	241798317	241798317	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:241798317G>C	ENST00000366553.1	-	1	915	c.752C>G	c.(751-753)tCa>tGa	p.S251*	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	251					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACTAACATCTGATTTGATTAA	0.343000													7	63					0	0	0.001984	0	0
MKI67	4288	broad.mit.edu	37	10	129906158	129906158	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:129906158G>C	ENST00000368654.3	-	13	4321	c.3946C>G	c.(3946-3948)Cca>Gca	p.P1316A	MKI67_ENST00000368653.3_Missense_Mutation_p.P956A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1316	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)				TTCTGCACTGGAGTTCCCACA	0.507000													23	275					0	0	0.001882	0	0
RBM19	9904	broad.mit.edu	37	12	114261089	114261089	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:114261089C>G	ENST00000545145.2	-	24	2901	c.2823G>C	c.(2821-2823)gaG>gaC	p.E941D	RBM19_ENST00000392561.3_Missense_Mutation_p.E941D|RBM19_ENST00000261741.5_Missense_Mutation_p.E941D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	941					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCAGGATCTCGTCCAACA	0.622000													3	29					0	0	0.004672	0	0
KRT4	3851	broad.mit.edu	37	12	53202496	53202496	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:53202496C>G	ENST00000293774.4	-	5	1465	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	KRT4_ENST00000551956.1_Missense_Mutation_p.E325Q|KRT4_ENST00000458244.2_Missense_Mutation_p.E305Q			B4DRS2	B4DRS2_HUMAN	keratin 4	325						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTCAGCCTCAGCCTTGCTC	0.572000													7	68					0	0	0.001984	0	0
C10orf12	26148	broad.mit.edu	37	10	98741788	98741788	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:98741788A>T	ENST00000286067.2	+	1	748	c.641A>T	c.(640-642)cAc>cTc	p.H214L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	214										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAAATTTACACTCCCAGGAA	0.458000													20	94					0	0	0.001523	0	0
AGO1	26523	broad.mit.edu	37	1	36367879	36367879	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:36367879C>G	ENST00000373204.4	+	11	1551	c.1338C>G	c.(1336-1338)atC>atG	p.I446M	AGO1_ENST00000373206.1_Missense_Mutation_p.I371M	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GGATTGAGATCAAAGTCTGGG	0.572000													4	83					0	0	0.000248	0	0
CDH19	28513	broad.mit.edu	37	18	64172405	64172405	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:64172405C>G	ENST00000262150.2	-	12	2255	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	655					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTGCTATATCAAAGGCCTCT	0.433000													43	167					0	0	0.003610	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578561	85578561	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:85578561C>T	ENST00000590707.1	+	0	284					NR_003719.2																						CCTGGCTCTACCTCTTCTGCC	0.478000													21	96					0	0	0.002299	0	0
PROX1	5629	broad.mit.edu	37	1	214171246	214171246	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:214171246C>A	ENST00000366958.4	+	2	1976	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A	PROX1_ENST00000498508.2_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000261454.4_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642000													33	102					4.4194e-11	1.00368e-10	0.002836	1	0
CCDC13	152206	broad.mit.edu	37	3	42793455	42793455	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:42793455C>T	ENST00000310232.6	-	5	659	c.576G>A	c.(574-576)ccG>ccA	p.P192P	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	192										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCTGGGCCCTCGGTGGCTTGG	0.597000													21	49					0	0	0.002299	0	0
DNAH11	8701	broad.mit.edu	37	7	21779240	21779240	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:21779240C>T	ENST00000328843.6	+	49	7915	c.7884C>T	c.(7882-7884)gtC>gtT	p.V2628V	DNAH11_ENST00000409508.3_Silent_p.V2621V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2628	AAA 3 (By similarity).				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						GCCAGTATGTCGCCTGCATGA	0.423000									Kartagener syndrome				13	65					0	0	0.003163	0	0
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:92523337G>T	ENST00000298047.6	+	7	4581	c.4564G>T	c.(4564-4566)Gag>Tag	p.E1522*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.E1372*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E1522*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1522	Cadherin 14.				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)				CTATACTGCCGAGAGGCTGGA	0.498000										TCGA Ovarian(4;0.039)			53	142					9.86064e-34	2.45954e-33	0.003610	1	0
YLPM1	56252	broad.mit.edu	37	14	75248700	75248700	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75248700C>T	ENST00000325680.7	+	4	2078	c.1954C>T	c.(1954-1956)Cca>Tca	p.P652S	YLPM1_ENST00000552421.1_Missense_Mutation_p.P652S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P457S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCCCAGTTCCACCAGCCTC	0.547000													15	47					0	0	0.002450	0	0
PAX7	5081	broad.mit.edu	37	1	19062184	19062184	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:19062184C>A	ENST00000420770.2	+	8	1297	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	PAX7_ENST00000400661.3_Missense_Mutation_p.S403Y|PAX7_ENST00000375375.3_Missense_Mutation_p.S405Y	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	405					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCTGACTTCTCCATCTCCCCG	0.657000			T	FOXO1A	alveolar rhabdomyosarcoma								21	65					3.51602e-12	8.13282e-12	0.001216	1	0
UGT2B11	10720	broad.mit.edu	37	4	70079865	70079865	+	Silent	SNP	G	G	T	rs148942208	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:70079865G>T	ENST00000446444.1	-	1	584	c.576C>A	c.(574-576)tcC>tcA	p.S192S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	192					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGGTATGTAGGAAGGAGGGA	0.393000													15	65					0.00316338	0.00593685	0.003163	1	0
ZNF563	147837	broad.mit.edu	37	19	12430511	12430511	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12430511C>G	ENST00000293725.5	-	4	533	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	ZNF563_ENST00000595977.1_Missense_Mutation_p.E110Q	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTATGACTTCTTCACACTCA	0.418000													13	145					0	0	0.001855	0	0
TYR	7299	broad.mit.edu	37	11	88911881	88911881	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:88911881G>C	ENST00000263321.5	+	1	1262	c.760G>C	c.(760-762)Ggt>Cgt	p.G254R	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	254					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.G254S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GTACATGGGAGGTCAGCACCC	0.458000													19	51					0	0	0.001216	0	0
KCNB2	9312	broad.mit.edu	37	8	73849296	73849296	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:73849296C>G	ENST00000523207.1	+	3	2294	c.1706C>G	c.(1705-1707)gCa>gGa	p.A569G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	569					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGCCATCTGCATATGAAGAA	0.507000													7	78					0	0	0.003080	0	0
TRPS1	7227	broad.mit.edu	37	8	116599354	116599354	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:116599354C>A	ENST00000395715.3	-	5	3151	c.2574G>T	c.(2572-2574)ttG>ttT	p.L858F	TRPS1_ENST00000520276.1_Missense_Mutation_p.L849F|TRPS1_ENST00000220888.5_Missense_Mutation_p.L845F|TRPS1_ENST00000519076.1_Missense_Mutation_p.L599F|TRPS1_ENST00000519674.1_Missense_Mutation_p.L845F	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	845					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCACAGCCAAGCCATAAA	0.597000									Langer-Giedion syndrome				5	60					3.86212e-05	7.69348e-05	0.000673	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072993	17072993	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:17072993G>T	ENST00000359963.3	-	1	707	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	150					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGATGGCCAGGGAGGGCAGT	0.637000													26	48					2.12542e-12	4.94894e-12	0.001061	1	0
WWC3	55841	broad.mit.edu	37	X	10092369	10092369	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:10092369G>T	ENST00000380861.4	+	13	2207	c.1816G>T	c.(1816-1818)Gtg>Ttg	p.V606L	WWC3_ENST00000454666.1_Missense_Mutation_p.V606L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	606										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAGATCCACGTGGGACTCCT	0.607000													23	43					9.95505e-16	2.39441e-15	0.002299	1	0
NEDD4L	23327	broad.mit.edu	37	18	56034991	56034991	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:56034991C>G	ENST00000456986.1	+	22	2314	c.1714C>G	c.(1714-1716)Ctt>Gtt	p.L572V	NEDD4L_ENST00000256830.9_Missense_Mutation_p.L589V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L693V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L665V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L673V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L629V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L552V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L685V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L572V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L553V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L552V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	693	WW 4.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CAACTACACCCTTCAGATCAA	0.413000													9	43					0	0	0.004482	0	0
MIR513C	100302114	broad.mit.edu	37	X	146271282	146271282	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:146271282C>T	ENST00000401352.1	-	0	23					NR_031709.1																						taaacgacacctccttgagaa	0.438000													4	17					0	0	0.000248	0	0
MCF2L2	23101	broad.mit.edu	37	3	183028720	183028720	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:183028720C>G	ENST00000328913.3	-	9	1273	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	MCF2L2_ENST00000414362.2_Missense_Mutation_p.E326Q|MCF2L2_ENST00000447025.2_Missense_Mutation_p.E326Q|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E326Q	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	326					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAATCGTGCTCAAAATGCTGT	0.403000													3	77					0	0	0.000602	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356754	37356754	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:37356754C>A	ENST00000217420.1	+	2	1313	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	350					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCGTGCTCAAGGGCCTCT	0.617000													8	42					1.12685e-05	2.26795e-05	0.004482	1	0
ITIH4	3700	broad.mit.edu	37	3	52852070	52852070	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:52852070T>C	ENST00000266041.4	-	20	2390	c.2294A>G	c.(2293-2295)cAa>cGa	p.Q765R	ITIH4_ENST00000346281.5_Missense_Mutation_p.Q749R|ITIH4_ENST00000485816.1_Missense_Mutation_p.Q770R|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q735R	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	765					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCTCTCACCTTGCTCAGGGTC	0.647000													13	27					0	0	0.001368	0	0
ZNF234	10780	broad.mit.edu	37	19	44661807	44661807	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44661807G>A	ENST00000426739.2	+	6	1896	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	ZNF234_ENST00000592437.1_Silent_p.G546G	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGAGTGTGGGAAGAGCTTCA	0.483000													16	88					0	0	0.003163	0	0
MYO1B	4430	broad.mit.edu	37	2	192273886	192273886	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:192273886G>C	ENST00000392318.3	+	26	2995	c.2748G>C	c.(2746-2748)agG>agC	p.R916S	MYO1B_ENST00000392316.1_Missense_Mutation_p.R887S|MYO1B_ENST00000304164.4_Missense_Mutation_p.R916S|MYO1B_ENST00000339514.4_Missense_Mutation_p.R858S|MYO1B_ENST00000439065.2_Missense_Mutation_p.R161S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	916						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)			AGCTAAAAAGGATTTTCCACT	0.323000													16	74					0	0	0.000958	0	0
ZC3H13	23091	broad.mit.edu	37	13	46542018	46542018	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:46542018C>T	ENST00000242848.4	-	15	4290	c.3942G>A	c.(3940-3942)gaG>gaA	p.E1314E	ZC3H13_ENST00000378921.2_Silent_p.E270E|ZC3H13_ENST00000282007.3_Silent_p.E1314E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1314							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tatctctcctctctctctcgc	0.498000													12	66					0	0	0.000978	0	0
COL22A1	169044	broad.mit.edu	37	8	139790645	139790645	+	Missense_Mutation	SNP	G	G	T	rs149741596	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139790645G>T	ENST00000303045.6	-	15	2155	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P570H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	570	Collagen-like 3.|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)			TGGTCCTTGGGGCCCCTGCAG	0.562000										HNSCC(7;0.00092)			7	30					0.00448238	0.00839428	0.004482	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935815	151935815	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:151935815G>T	ENST00000393902.3	-	3	919	c.352C>A	c.(352-354)Cat>Aat	p.H118N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.H118N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	118	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAAATGAACCAACTCG	0.537000													8	149					5.4927e-09	1.19179e-08	0.004482	1	0
MAP1B	4131	broad.mit.edu	37	5	71482446	71482446	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:71482446C>A	ENST00000296755.7	+	4	673	c.375C>A	c.(373-375)cgC>cgA	p.R125R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	125						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCAGGTGCGCTTAATGATCA	0.552000													15	92					0.000422831	0.000820818	0.004007	1	0
MGAM	8972	broad.mit.edu	37	7	141736654	141736654	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141736654C>T	ENST00000475668.2	+	18	2162	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	MGAM_ENST00000549489.2_Missense_Mutation_p.S703F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	703	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGCTGACTCCCTGCTGTTG	0.532000													15	217					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179614079	179614079	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:179614079T>C	ENST00000360870.5	-	46	13270	c.13048A>G	c.(13048-13050)Atc>Gtc	p.I4350V	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	484	Ig-like 23.						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)			TCAGCCCTGATGGGCTTGCTG	0.423000													18	99					0	0	0.000743	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192824	102192824	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:102192824A>G	ENST00000218249.5	+	1	625	c.578A>G	c.(577-579)cAa>cGa	p.Q193R	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	193	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTGAGCTTGCAAGACCTCTGC	0.567000													21	46					0	0	0.001523	0	0
OR2H1	26716	broad.mit.edu	37	6	29430223	29430223	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:29430223T>A	ENST00000377136.1	+	4	1142	c.677T>A	c.(676-678)aTt>aAt	p.I226N	OR2H1_ENST00000377132.1_Missense_Mutation_p.I226N|OR2H1_ENST00000442615.1_Missense_Mutation_p.I226N|OR2H1_ENST00000377133.1_Missense_Mutation_p.I226N|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.I226N			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGCTGAGGATTAACTCTGCC	0.537000													22	133					0	0	0.001523	0	0
FRAS1	80144	broad.mit.edu	37	4	79455626	79455626	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:79455626A>T	ENST00000264895.6	+	71	11389	c.10949A>T	c.(10948-10950)cAg>cTg	p.Q3650L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3645					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						ATTGCATTCCAGCAGACCAAC	0.443000													32	142					0	0	0.003271	0	0
LPAR4	2846	broad.mit.edu	37	X	78010699	78010699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:78010699C>A	ENST00000435339.2	+	2	738	c.333C>A	c.(331-333)tgC>tgA	p.C111*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.C111*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	111						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACACCCTCTGCAAGATCTCTG	0.428000													34	109					9.78485e-24	2.41314e-23	0.002836	1	0
ACO1	48	broad.mit.edu	37	9	32420929	32420929	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:32420929G>A	ENST00000379923.1	+	9	1080	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ACO1_ENST00000309951.5_Missense_Mutation_p.D292N|ACO1_ENST00000541043.1_Missense_Mutation_p.D193N	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	292					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTCCATTGCTGACCGAGCTAC	0.502000													9	163					0	0	0.000443	0	0
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:36767803G>A	ENST00000244751.2	-	4	852	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.							p.F76F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552000													9	34					0	0	0.000443	0	0
BIRC6	57448	broad.mit.edu	37	2	32735635	32735635	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:32735635C>A	ENST00000421745.2	+	53	10414	c.10280C>A	c.(10279-10281)tCt>tAt	p.S3427Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3427					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGGACTCTCTTCTGACTCT	0.343000													13	152					8.60227e-14	2.03548e-13	0.004007	1	0
CAPN2	824	broad.mit.edu	37	1	223933090	223933090	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:223933090C>G	ENST00000295006.5	+	4	818	c.509C>G	c.(508-510)tCa>tGa	p.S170*	CAPN2_ENST00000433674.2_Nonsense_Mutation_p.S92*	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	170	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTGTGCATTCAGCCGAAGGG	0.612000													3	79					0	0	0.004672	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793167	65793167	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:65793167C>A	ENST00000312106.5	-	1	821	c.684G>T	c.(682-684)agG>agT	p.R228S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	228	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GATGACGGGACCTGCCATGGT	0.592000													13	33					3.27435e-08	7.00904e-08	0.002450	1	0
PHYHD1	254295	broad.mit.edu	37	9	131704027	131704027	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:131704027G>T	ENST00000308941.5	+	12	1309	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000372592.3_3'UTR|PHYHD1_ENST00000421063.2_3'UTR|PHYHD1_ENST00000353176.5_3'UTR	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CGCCCCTCCCGGGTGAAGCTG	0.612000													11	20					2.27111e-07	4.79122e-07	0.001368	1	0
SCUBE2	57758	broad.mit.edu	37	11	9090930	9090930	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:9090930C>T	ENST00000457346.2	-	5	704	c.630G>A	c.(628-630)caG>caA	p.Q210Q	SCUBE2_ENST00000520467.1_Silent_p.Q210Q|SCUBE2_ENST00000450649.2_Silent_p.Q210Q|SCUBE2_ENST00000309263.3_Silent_p.Q210Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	210	EGF-like 4 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGCAGTCTCTCTGGTTCTTGG	0.577000													20	67					0	0	0.001523	0	0
ATP1A2	477	broad.mit.edu	37	1	160098579	160098579	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:160098579C>A	ENST00000361216.3	+	9	1244	c.1155C>A	c.(1153-1155)acC>acA	p.T385T	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.T385T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	385					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCGCATGACCGTCGCCCACA	0.592000													32	84					2.68265e-12	6.21339e-12	0.002836	1	0
LCE4A	199834	broad.mit.edu	37	1	152681605	152681605	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152681605C>A	ENST00000368777.1	+	2	310	c.54C>A	c.(52-54)atC>atA	p.I18I	LCE4A_ENST00000335535.3_Silent_p.I18I			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	18	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			AGTGTCCTATCCCCAAGTATC	0.517000													24	153					5.45024e-15	1.30019e-14	0.003330	1	0
SFRP4	6424	broad.mit.edu	37	7	37955825	37955825	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:37955825G>T	ENST00000436072.2	-	1	692	c.315C>A	c.(313-315)cgC>cgA	p.R105R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	105	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	p.R105R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGCAGTCGTCGCGCGCGCGTT	0.622000													11	42					2.80697e-09	6.15916e-09	0.000978	1	0
INTS7	25896	broad.mit.edu	37	1	212151750	212151750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:212151750G>A	ENST00000366994.3	-	11	1438	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	INTS7_ENST00000366993.3_Missense_Mutation_p.A445V|INTS7_ENST00000366992.3_Missense_Mutation_p.A445V|INTS7_ENST00000440600.2_Missense_Mutation_p.A396V|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	445					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAAAATCCGGGCAGCGTCTTG	0.532000													12	77					0	0	0.000978	0	0
ACOT9	23597	broad.mit.edu	37	X	23749058	23749058	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:23749058G>A	ENST00000379303.5	-	5	365	c.237C>T	c.(235-237)ttC>ttT	p.F79F	ACOT9_ENST00000379295.1_Silent_p.F10F|ACOT9_ENST00000492081.1_Silent_p.F10F|ACOT9_ENST00000336430.7_Silent_p.F70F	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	70					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATTTAGCCAAGAAACTATGAA	0.418000													7	138					0	0	0.001984	0	0
ST5	6764	broad.mit.edu	37	11	8724239	8724239	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:8724239G>A	ENST00000534127.1	-	17	2985	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L	RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.S58L|ST5_ENST00000357665.1_Missense_Mutation_p.S867L|ST5_ENST00000313726.6_Missense_Mutation_p.S867L|ST5_ENST00000530438.1_Missense_Mutation_p.S447L|ST5_ENST00000526757.1_Missense_Mutation_p.S447L|ST5_ENST00000526099.1_Missense_Mutation_p.S380L|ST5_ENST00000530991.1_Missense_Mutation_p.S339L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	867	DENN.				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)		CTCCAGCCTTGAGTCCATGGG	0.622000													9	50					0	0	0.000978	0	0
KIF13A	63971	broad.mit.edu	37	6	17817357	17817357	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:17817357G>A	ENST00000378814.5	-	17	1893	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	KIF13A_ENST00000378826.2_Missense_Mutation_p.R632C|KIF13A_ENST00000378843.2_Missense_Mutation_p.R632C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R632C|KIF13A_ENST00000259711.6_Missense_Mutation_p.R632C|KIF13A_ENST00000503342.1_5'UTR	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	632					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCTGCTGGCGGAGTTGCTCC	0.587000													18	55					0	0	0.000958	0	0
C1S	716	broad.mit.edu	37	12	7177304	7177304	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:7177304G>T	ENST00000406697.1	+	15	2044	c.1416G>T	c.(1414-1416)acG>acT	p.T472T	C1S_ENST00000360817.5_Silent_p.T472T|C1S_ENST00000328916.3_Silent_p.T472T|C1S_ENST00000402681.3_Silent_p.T305T|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	472	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGTGCTGACGGCTGCTCATG	0.517000													8	35					0.000157383	0.000307222	0.003080	1	0
E2F2	1870	broad.mit.edu	37	1	23848419	23848419	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:23848419T>C	ENST00000361729.2	-	3	914	c.488A>G	c.(487-489)gAc>gGc	p.D163G		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	163	Leucine-zipper.				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCTGCACGTCCAGCACCTC	0.567000													4	71					0	0	0.000602	0	0
TCIRG1	10312	broad.mit.edu	37	11	67812468	67812468	+	Missense_Mutation	SNP	G	G	T	rs148627120	by1000genomes	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:67812468G>T	ENST00000265686.3	+	10	1172	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	TCIRG1_ENST00000532635.1_Missense_Mutation_p.R139L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	355					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ATCCCCTGCCGGGACATGCCC	0.682000													10	46					1.58986e-06	3.2945e-06	0.000673	1	0
OR5H1	26341	broad.mit.edu	37	3	97852367	97852367	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97852367C>G	ENST00000354565.2	+	1	826	c.826C>G	c.(826-828)Cta>Gta	p.L276V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGTGGAGCCTCTATTCTACAC	0.393000													13	101					0	0	0.001368	0	0
FLT3	2322	broad.mit.edu	37	13	28624246	28624246	+	Missense_Mutation	SNP	C	C	A	rs61729144	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:28624246C>A	ENST00000380982.4	-	6	809	c.728G>T	c.(727-729)aGg>aTg	p.R243M	FLT3_ENST00000241453.7_Missense_Mutation_p.R243M|FLT3_ENST00000537084.1_Missense_Mutation_p.R243M			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	243					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)	TGTGAACAGCCTGGTGCATTC	0.428000			"""Mis, O"""		"""AML, ALL"""								21	101					4.35082e-09	9.52285e-09	0.001523	1	0
BIRC6	57448	broad.mit.edu	37	2	32773002	32773002	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:32773002C>T	ENST00000421745.2	+	64	13030	c.12896C>T	c.(12895-12897)tCt>tTt	p.S4299F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4299					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAACAGGCTCTACAGCTTCT	0.428000													8	31					0	0	0.003080	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420425	110420425	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110420425C>G	ENST00000378402.5	+	18	2065	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	654					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)			CTATGGTCATCAGAAGCTGAA	0.448000										HNSCC(38;0.096)			10	37					0	0	0.000673	0	0
PPP1R36	145376	broad.mit.edu	37	14	65041172	65041172	+	Splice_Site	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:65041172G>C	ENST00000298705.1	+	8	629		c.e8-1		RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36																		CTCCCCATCAGAGGCCTTGTA	0.363000													7	48					0	0	0.001984	0	0
TCEAL2	140597	broad.mit.edu	37	X	101381993	101381993	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101381993C>T	ENST00000372780.1	+	3	410	c.191C>T	c.(190-192)cCa>cTa	p.P64L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P64L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAGAAAAGCCagagagtgcg	0.468000													8	16					0	0	0.003080	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091842	30091842	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:30091842C>T	ENST00000567636.1	+	0	217					NR_003558.1																						AGATCTGCATCATCCACCAAG	0.398000													6	68					0	0	0.001984	0	0
PTPRU	10076	broad.mit.edu	37	1	29652139	29652139	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:29652139C>T	ENST00000373779.3	+	30	4406	c.4277C>T	c.(4276-4278)gCc>gTc	p.A1426V	PTPRU_ENST00000356870.3_Missense_Mutation_p.A1432V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A1432V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1430V|PTPRU_ENST00000428026.2_Missense_Mutation_p.A1423V|PTPRU_ENST00000345512.3_Missense_Mutation_p.A1436V	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1436	Tyrosine-protein phosphatase 2.				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)		TACGATGTGGCCCTGGAGTAC	0.622000													13	72					0	0	0.003163	0	0
ENOX2	10495	broad.mit.edu	37	X	129759343	129759343	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:129759343G>T	ENST00000338144.3	-	16	2195	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	ENOX2_ENST00000370927.1_Missense_Mutation_p.A593D|ENOX2_ENST00000394363.1_Missense_Mutation_p.A564D|ENOX2_ENST00000370935.1_Missense_Mutation_p.A564D	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	593					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCCAGGCTGGCTCCAACTCC	0.478000													6	76					2.7689e-08	5.94888e-08	0.001984	1	0
PLEKHN1	84069	broad.mit.edu	37	1	901962	901964	+	In_Frame_Del	DEL	CTT	CTT	-	rs146294016		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:901962_901964delCTT	ENST00000379409.2	+	1	81_83	c.51_53delCTT	c.(49-54)tcc>tc	p.SF17del	PLEKHN1_ENST00000379410.3_In_Frame_Del_p.SF17del|PLEKHN1_ENST00000379407.2_In_Frame_Del_p.SF17del			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	17										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCCGGGCCTCCTTCTCCAGAAAG	0.690													14	37	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27092740	27092740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:27092740delG	ENST00000324856.7	+	9	3132	c.2761delG	c.(2761-2763)ggfs	p.G922fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G922fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G539fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	922					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGAATCAAGGGGGCATGAT	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								10	60	---	---	---	---					
SLC35D1	23169	broad.mit.edu	37	1	67507918	67507918	+	Splice_Site	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:67507918delC	ENST00000235345.5	-	8	815		c.e8+1		SLC35D1_ENST00000506472.2_Splice_Site	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1						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)	GAAAGTCCTACCTTTTGTGCA	0.383													45	192	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:154842200_154842202delGCT	ENST00000271915.3	-	1	554_556	c.239_241delAGC	c.(238-243)cca>c	p.QP80del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													3	6	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249273	90249273	+	RNA	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:90249273delC	ENST00000468879.1	+	0	410																											ATCCAGTTTGCAAAGTGGGGT	0.488													47	238	---	---	---	---					
ST6GAL2	84620	broad.mit.edu	37	2	107450599	107450599	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:107450599delG	ENST00000409382.3	-	3	1557	c.947delC	c.(946-948)ttfs	p.S316fs	ST6GAL2_ENST00000361686.4_Frame_Shift_Del_p.S316fs|ST6GAL2_ENST00000409087.3_Frame_Shift_Del_p.S316fs	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	316					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCATCATGAGAATCTAAGGG	0.363													7	94	---	---	---	---					
GLI2	2736	broad.mit.edu	37	2	121743959	121743959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:121743959delC	ENST00000452319.1	+	13	2122	c.2062delC	c.(2062-2064)ccfs	p.P688fs	GLI2_ENST00000314490.11_Frame_Shift_Del_p.P360fs|GLI2_ENST00000361492.4_Frame_Shift_Del_p.P688fs|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	688					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGGGACGGGGCCCGGGAGCCT	0.711													12	30	---	---	---	---					
NLGN1	22871	broad.mit.edu	37	3	173999063	173999063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173999063delC	ENST00000457714.1	+	7	2871	c.2442delC	c.(2440-2442)cafs	p.H814fs	NLGN1_ENST00000545397.1_Frame_Shift_Del_p.H814fs|NLGN1_ENST00000361589.4_Frame_Shift_Del_p.H814fs|NLGN1_ENST00000401917.3_Frame_Shift_Del_p.H854fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	831					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCATCCCCACCCCCATTCAC	0.418													16	33	---	---	---	---					
VPS28	51160	broad.mit.edu	37	8	145649363	145649363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:145649363delC	ENST00000377348.2	-	9	698	c.609delG	c.(607-609)cgfs	p.R203fs	VPS28_ENST00000292510.4_Intron|VPS28_ENST00000526054.1_Intron|VPS28_ENST00000529182.1_Frame_Shift_Del_p.R203fs	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	0	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGCGGGGCTCCGCCTGGCTG	0.706													22	80	---	---	---	---					
SPATA31D1	389763	broad.mit.edu	37	9	84603894	84603894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:84603894delC	ENST00000344803.2	+	1	208	c.161delC	c.(160-162)acfs	p.T54fs		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCGTCACCCACCGAAAAAAAT	0.428													24	51	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98270530	98270530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:98270530delC	ENST00000331920.6	-	1	413	c.114delG	c.(112-114)ggfs	p.G38fs	PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000430669.2_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	38					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			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)				CACGGCGCAGCCCCCCCGTCC	0.736													8	17	---	---	---	---					
OPN4	94233	broad.mit.edu	37	10	88416025	88416025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:88416025delG	ENST00000372071.2	+	2	485	c.258delG	c.(256-258)ctfs	p.L86fs	OPN4_ENST00000241891.5_Frame_Shift_Del_p.L86fs	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	86					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						CGGGGATGCTGGGCAACCTGA	0.617													19	96	---	---	---	---					
TBC1D4	9882	broad.mit.edu	37	13	75930347	75930348	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:75930347_75930348insC	ENST00000377636.3	-	4	1556_1557	c.1210_1211insG	c.(1210-1212)gtcfs	p.V404fs	TBC1D4_ENST00000431480.2_Frame_Shift_Ins_p.V404fs|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Frame_Shift_Ins_p.V404fs	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	404	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTCTGGAGACTCCCGGCAGATA	0.431													13	43	---	---	---	---					
ANKRD12	23253	broad.mit.edu	37	18	9258619	9258619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:9258619delG	ENST00000383440.2	+	8	5542	c.5285delG	c.(5284-5286)cgfs	p.R1762fs	ANKRD12_ENST00000262126.3_Frame_Shift_Del_p.R1785fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.R1762fs	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1785						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACCATCCACGGAAAAGGAAA	0.423													12	57	---	---	---	---					
LPHN1	22859	broad.mit.edu	37	19	14261849	14261850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:14261849_14261850insG	ENST00000340736.6	-	24	4557_4558	c.4260_4261insC	c.(4258-4263)ccaaatfs	p.N1421fs	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Frame_Shift_Ins_p.N1416fs|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1421					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGTAGATTTCGGGGGGGCCGG	0.733													2	4	---	---	---	---					
LILRB3	11025	broad.mit.edu	37	19	54726424	54726424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54726424delG	ENST00000391750.1	-	4	217	c.81delC	c.(79-81)ccfs	p.P27fs	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000424807.1_Frame_Shift_Del_p.P27fs|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Frame_Shift_Del_p.P27fs|LILRB3_ENST00000346401.6_Frame_Shift_Del_p.P27fs|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	27					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGGGTTTGGGGAAGGGCC	0.632													6	7	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31023983	31023983	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:31023983delA	ENST00000375687.4	+	13	3892	c.3468delA	c.(3466-3468)ggfs	p.G1156fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G1151fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1156					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATGGTCTTGGAAAAAACAGTG	0.507			"""F, N, Mis"""		"""MDS, CMML"""								20	78	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107868952	107868952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107868952delG	ENST00000328300.6	+	35	3278	c.3034delG	c.(3034-3036)gtfs	p.G1012fs	COL4A5_ENST00000361603.2_Frame_Shift_Del_p.G1012fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1012	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTAACCCTGGTCTCCCTGG	0.413									Alport syndrome with Diffuse Leiomyomatosis				7	58	---	---	---	---					
ACTRT1	139741	broad.mit.edu	37	X	127185739	127185739	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:127185739delG	ENST00000371124.3	-	1	643	c.447delC	c.(445-447)gcfs	p.A149fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	149						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGTGACACAGGCAGAGGCAT	0.527													10	203	---	---	---	---					
USP26	83844	broad.mit.edu	37	X	132162111	132162111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:132162111delT	ENST00000511190.1	-	6	607	c.138delA	c.(136-138)aafs	p.K46fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.K46fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.K46fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	46					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAGTGCTATATTTTCCACTTT	0.333													21	58	---	---	---	---