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
CLPSL1	340204	broad.mit.edu	37	6	35755672	35755672	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:35755672C>T	ENST00000373861.5	+	3	345	c.251C>T	c.(250-252)cCc>cTc	p.P84L	CLPSL1_ENST00000542261.1_Missense_Mutation_p.P83L			A2RUU4	CF127_HUMAN	colipase-like 1	84					digestion|lipid catabolic process	extracellular region	enzyme activator activity										AGAGCGTGTCCCTGCCTGCGG	0.522000													13	68					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11797724	11797724	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:11797724G>A	ENST00000262442.3	+	59	11385	c.11317G>A	c.(11317-11319)Gag>Aag	p.E3773K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3773K|DNAH9_ENST00000396001.2_Missense_Mutation_p.E85K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3773					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAATGCAGTGGAGTTGGATTT	0.512000													35	47					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727769	119727769	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:119727769C>T	ENST00000541757.1	+	4	425	c.45C>T	c.(43-45)tcC>tcT	p.S15S	MARCO_ENST00000327097.4_Silent_p.S93S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	93					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACAGCCCGTCCTTCTCCTTGC	0.627000													14	79					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:31822993G>T	ENST00000382902.1	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S190Y			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	190	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527000													14	78					3.45872e-05	3.52021e-05	1	1	0
TMEM246	84302	broad.mit.edu	37	9	104238933	104238933	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:104238933G>A	ENST00000374851.1	-	4	1589	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TMEM246_ENST00000374848.3_Missense_Mutation_p.R148C|TMEM246_ENST00000374847.1_Missense_Mutation_p.R148C|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	148						integral to membrane											CTCACACTACGCTCCACGTTG	0.552000													11	121					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904075	56904075	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:56904075C>T	ENST00000438926.2	+	5	698	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC12A3_ENST00000262502.5_Silent_p.F222F|SLC12A3_ENST00000566786.1_Silent_p.F222F|SLC12A3_ENST00000563236.1_Silent_p.F223F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	223					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCTCATTTTCGCTTTCGCCA	0.642000													12	84					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59805664	59805664	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:59805664G>A	ENST00000371218.4	+	3	420	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	FGGY_ENST00000303721.7_Missense_Mutation_p.R79Q|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	79					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AACCAAATTCGAGGACTTGGG	0.363000													6	35					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429873	42429873	+	Silent	SNP	C	C	T	rs63751698		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:42429873C>T	ENST00000053867.3	+	12	1640	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	GRN_ENST00000589265.1_Silent_p.F369F	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	526					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGGACACTTCTGCCATGATA	0.632000													12	105					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98574128	98574128	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:98574128C>T	ENST00000359863.4	+	54	8170	c.7961C>T	c.(7960-7962)cCa>cTa	p.P2654L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2636L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2636L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2654					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGATAAGTCCATTTCTGTGC	0.552000													9	64					0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9751129	9751129	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:9751129G>A	ENST00000229402.3	-	4	426	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	127	C-type lectin.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						CAGCAGGCTGGATTCTTTGGT	0.353000													35	116					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84486818	84486818	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:84486818G>A	ENST00000416219.2	+	19	1995	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E636K|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	636					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.E636*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGAGAAGGGCGAGCTGGCCGA	0.622000													14	64					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903909	4903909	+	Silent	SNP	C	C	T	rs111347642		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:4903909C>T	ENST00000380378.1	+	1	861	c.861C>T	c.(859-861)ctC>ctT	p.L287L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.L260L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCAGCCTCTCTTTGGCAC	0.488000													17	79					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124153276	124153276	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:124153276G>A	ENST00000360013.3	+	17	3073	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	KALRN_ENST00000460856.1_Silent_p.E973E|KALRN_ENST00000240874.3_Silent_p.E982E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	982					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATGTGCTGAGAAGGTGGCCC	0.562000													10	73					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	G	A	rs146975565		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:71740883G>A	ENST00000269500.5	-	10	1453	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	FBXO15_ENST00000419743.2_Missense_Mutation_p.S449L|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000													66	156					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894422	78894422	+	Missense_Mutation	SNP	C	C	T	rs74315118		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:78894422C>T	ENST00000326828.5	-	5	946	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CHRNA3_ENST00000348639.3_Missense_Mutation_p.D188N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	188					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGACCAGATCGATTTTCGCC	0.488000													39	146					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270703	37270703	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:37270703C>T	ENST00000373091.3	-	15	2466	c.2450G>A	c.(2449-2451)gGg>gAg	p.G817E	GRIK3_ENST00000373093.4_Missense_Mutation_p.G817E	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	817					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTTCTGGATCCCCAGGGCACT	0.597000													12	97					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526326	84526326	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:84526326C>T	ENST00000360700.4	+	10	2802	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	ZNF711_ENST00000276123.3_Missense_Mutation_p.P593L|ZNF711_ENST00000373165.3_Missense_Mutation_p.P593L|ZNF711_ENST00000542798.1_Missense_Mutation_p.P435L|ZNF711_ENST00000395402.1_Missense_Mutation_p.P601L			Q9Y462	ZN711_HUMAN	zinc finger protein 711	593					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CACCAGTGTCCTCATTGTGAC	0.428000													9	26					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229661690	229661690	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:229661690G>A	ENST00000344517.4	-	10	1941	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	633	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTGAGAGGAGAACACCCT	0.418000													89	241					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25471036	25471036	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:25471036G>A	ENST00000264709.3	-	7	1062	c.725C>T	c.(724-726)gCc>gTc	p.A242V	DNMT3A_ENST00000380746.4_Missense_Mutation_p.A53V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A19V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A242V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	242	Interaction with DNMT1 and DNMT3B.				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)					AGGAGGGCTGGCCTCCTCCAC	0.607000			"""Mis, F, N, S"""		AML								14	79					0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140173983	140173983	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:140173983G>A	ENST00000357503.2	+	2	1038	c.842G>A	c.(841-843)gGc>gAc	p.G281D		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	281					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										GAGCTGCACGGCTTCCTGCAG	0.692000													6	16					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459945	186459945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:186459945G>A	ENST00000265023.4	+	10	1972	c.1760G>A	c.(1759-1761)tGg>tAg	p.W587*	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	587					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)	GATGACGATTGGATCCCTGAT	0.463000													17	157					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694331	106694331	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:106694331G>A	ENST00000409944.1	+	5	519	c.288G>A	c.(286-288)cgG>cgA	p.R96R	C2orf40_ENST00000238044.3_Silent_p.R132R			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	132						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TTGGTCCCCGGAGCCCCTACG	0.463000													15	71					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171690	4171690	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:4171690C>T	ENST00000252587.3	+	7	919	c.776C>T	c.(775-777)gCg>gTg	p.A259V	CREB3L3_ENST00000595923.1_Silent_p.R369R|CREB3L3_ENST00000602257.1_Silent_p.R368R|CREB3L3_ENST00000078445.2_Silent_p.R370R|CREB3L3_ENST00000602147.1_Missense_Mutation_p.R335C			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	158					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCTCCCGCGTGGCTGCTG	0.647000													19	97					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307448	39307448	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:39307448C>T	ENST00000541347.1	-	2	792	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	CX3CR1_ENST00000358309.3_Missense_Mutation_p.E217K|CX3CR1_ENST00000542107.1_Missense_Mutation_p.E185K|CX3CR1_ENST00000399220.2_Missense_Mutation_p.E185K	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	185					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGCCAGATTTCCTGGAGGACC	0.502000													21	125					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3742509	3742509	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:3742509G>A	ENST00000315677.3	-	6	1771	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	DLGAP1_ENST00000581699.1_Silent_p.I98I|DLGAP1_ENST00000581527.1_Silent_p.I392I|DLGAP1_ENST00000515196.2_Silent_p.I392I|DLGAP1_ENST00000400145.2_Silent_p.I90I|DLGAP1_ENST00000400149.3_Silent_p.I100I|DLGAP1_ENST00000584874.1_Silent_p.I392I|DLGAP1_ENST00000534970.1_Silent_p.I104I|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400155.1_Silent_p.I98I|DLGAP1_ENST00000400147.2_Silent_p.I90I|DLGAP1_ENST00000539435.1_Silent_p.I90I|DLGAP1_ENST00000400150.3_Silent_p.I98I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	392					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)				GTTCATTGGAGATTCTGGAAG	0.473000													8	35					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731583	141731583	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:141731583G>A	ENST00000475668.2	+	13	1628	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	MGAM_ENST00000549489.2_Missense_Mutation_p.G525E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	525	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)	GAGTTTGATGGAATCTGGATT	0.378000													29	73					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864963	47864963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:47864963C>T	ENST00000396105.1	-	14	4844	c.4598G>A	c.(4597-4599)cGa>cAa	p.R1533Q	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1533Q|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1533							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCATGGGGGTCGGTTGCAGGG	0.577000													40	229					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224710	172224710	+	Splice_Site	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:172224710C>T	ENST00000241261.2	-	5	541		c.e5-1		TNFSF10_ENST00000420541.2_Splice_Site	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTCTTGGAGTCTGTAGGAAAT	0.443000													5	23					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037538	64037538	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:64037538G>A	ENST00000544785.1	-	2	459	c.459C>T	c.(457-459)ccC>ccT	p.P153P	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGCACCGGAAGGGAATCTGGG	0.607000													4	10					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247212	142247212	+	RNA	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:142247212C>T	ENST00000390361.3	-	0	293																											AAGAACCGATCGTTGGGCAGC	0.572000													25	106					0	0	1	0	0
SRP9	6726	broad.mit.edu	37	1	225976980	225976980	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:225976980G>A	ENST00000304786.7	+	3	292	c.180G>A	c.(178-180)aaG>aaA	p.K60K	SRP9_ENST00000366838.1_3'UTR|SRP9_ENST00000366839.4_3'UTR	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	60					negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			endometrium(1)|kidney(1)|skin(1)	3						AAGATGTAAAGAAGATTGAGA	0.348000													6	32					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:11505373G>A	ENST00000379237.1	-	15	1948	c.1554C>T	c.(1552-1554)acC>acT	p.T518T	USP6NL_ENST00000277575.5_Silent_p.T535T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	518						intracellular	Rab GTPase activator activity	p.T535T(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACCTGGGACGGTAACTGCGA	0.597000													57	174					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67548558	67548558	+	Splice_Site	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:67548558C>T	ENST00000307227.5	-	8	946	c.919_splice	c.e8+1	p.V307_splice	SUCLG2_ENST00000492795.1_Splice_Site_p.V307_splice|SUCLG2_ENST00000493112.1_Splice_Site_p.V307_splice	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	307					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TGCTTCTTACCAAAGCAGGCA	0.353000													46	55					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322486	167322486	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:167322486G>A	ENST00000409855.1	-	7	802	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	226					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCCCTACAAGGGATTTCAGA	0.403000													6	19					0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274588	3274588	+	Silent	SNP	A	A	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:3274588A>C	ENST00000431561.3	-	5	1104	c.492T>G	c.(490-492)ggT>ggG	p.G164G	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Silent_p.G164G|ZNF200_ENST00000396871.4_Silent_p.G163G|ZNF200_ENST00000396870.4_Silent_p.G163G|ZNF200_ENST00000396868.3_Silent_p.G163G|ZNF200_ENST00000575948.1_Silent_p.G163G	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CAGGATCTTCACCTTCAGGAT	0.413000													13	49					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158735092	158735092	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:158735092C>T	ENST00000367097.3	+	1	1401	c.44C>T	c.(43-45)tCc>tTc	p.S15F	TULP4_ENST00000367094.2_Missense_Mutation_p.S15F	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	15					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCAGCGATTCCAACATCCTG	0.478000													18	59					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183480001	183480001	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:183480001C>T	ENST00000305135.5	+	15	2076	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	627					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGCTGTGTCCCCTCAAAAAC	0.537000													24	68					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185033885	185033885	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:185033885C>T	ENST00000296741.2	-	6	1074	c.933G>A	c.(931-933)aaG>aaA	p.K311K		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	311					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ACTTTCCTTTCTTGTAATAGA	0.373000													28	97					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:57886005G>A	ENST00000302610.1	-	1	911	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000													15	128					0	0	1	0	0
FGF4	2249	broad.mit.edu	37	11	69588128	69588128	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:69588128C>T	ENST00000168712.1	-	3	888	c.570G>A	c.(568-570)ggG>ggA	p.G190G	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	190					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	ACACTCGGTTCCCCTTCTTGG	0.592000													13	76					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623686	100623686	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:100623686G>A	ENST00000317233.4	-	5	646	c.411C>T	c.(409-411)ccC>ccT	p.P137P	AFF3_ENST00000409236.1_Silent_p.P137P|AFF3_ENST00000356421.2_Silent_p.P162P|AFF3_ENST00000409579.1_Silent_p.P162P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	137					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGCTGCACGGGGACAGCTG	0.542000													23	72					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69129915	69129915	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:69129915C>T	ENST00000288368.4	+	38	4946	c.4669C>T	c.(4669-4671)Cgt>Tgt	p.R1557C		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1557					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R1557C(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACTGCCACCTCGTTACATCAT	0.552000													10	38					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022653	73022653	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:73022653C>T	ENST00000263674.3	+	1	3320	c.2970C>T	c.(2968-2970)ttC>ttT	p.F990F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	990	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCATAGGCTTCCCTACCCGAG	0.607000													16	74					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40747058	40747058	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:40747058C>T	ENST00000373198.3	-	22	3268	c.3033G>A	c.(3031-3033)ctG>ctA	p.L1011L	PTPRT_ENST00000356100.2_Silent_p.L998L|PTPRT_ENST00000373190.1_Silent_p.L988L|PTPRT_ENST00000373187.1_Silent_p.L989L|PTPRT_ENST00000373201.1_Silent_p.L979L|PTPRT_ENST00000373184.1_Silent_p.L979L|PTPRT_ENST00000373193.3_Silent_p.L992L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	989	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCACTTCCACCAGGTTTGTGA	0.537000													18	103					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641129	179641129	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179641129C>T	ENST00000589042.1	-	28	5686	c.5462G>A	c.(5461-5463)aGa>aAa	p.R1821K	TTN_ENST00000342175.6_Missense_Mutation_p.R1775K|TTN_ENST00000359218.5_Missense_Mutation_p.R1775K|TTN_ENST00000360870.5_Missense_Mutation_p.R1821K|TTN_ENST00000591111.1_Missense_Mutation_p.R1821K|TTN_ENST00000342992.6_Missense_Mutation_p.R1821K|TTN_ENST00000460472.2_Missense_Mutation_p.R1775K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1549							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)			ATGAGCCATTCTCTCTAATTC	0.413000													33	164					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117650555	117650555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:117650555G>A	ENST00000368508.3	-	32	5501	c.5303C>T	c.(5302-5304)tCa>tTa	p.S1768L	ROS1_ENST00000368507.3_Missense_Mutation_p.S1762L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1768	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S1768L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACTGTATTGAATTTTTACT	0.328000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								27	80					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244218	1244218	+	RNA	SNP	G	G	A	rs79407053	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:1244218G>A	ENST00000581398.1	+	0	172				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						CACGTGTGGAGCCCTTGTAGG	0.597000													3	22					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117071542	117071542	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:117071542C>T	ENST00000356083.3	+	60	5611	c.5220C>T	c.(5218-5220)gtC>gtT	p.V1740V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1740	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCTATAGGTCGAGTTTGCCA	0.602000													36	197					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179515978	179515978	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179515978G>A	ENST00000589042.1	-	208	39841	c.39617C>T	c.(39616-39618)cCa>cTa	p.P13206L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11699L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10772L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11561	Ig-like 87.						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)			ACCTTTTGCTGGTGGGACTTC	0.368000													20	59					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703610	55703610	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:55703610C>T	ENST00000301532.3	-	1	266	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTGTTCTCCGAGAGGAAAT	0.408000													13	59					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762811	24762811	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:24762811C>T	ENST00000376451.2	+	2	915	c.655C>T	c.(655-657)Cca>Tca	p.P219S	KIAA1217_ENST00000396446.1_Missense_Mutation_p.P219S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P501S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P219S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P219S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P421S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P501S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P501S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P422S			Q5T5P2	SKT_HUMAN	KIAA1217	501					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACCATGCAGCCAGACCGGGC	0.572000													14	119					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982082	75982082	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:75982082C>T	ENST00000308508.5	-	3	1416	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	442	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTGTGCCCCCCTCGGCCACC	0.637000													11	127					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920608	13920608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:13920608C>T	ENST00000265104.4	-	6	883	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	260	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTTTGATCCATACTTTCAT	0.398000									Kartagener syndrome				24	138					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15557752	15557752	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:15557752G>A	ENST00000281513.5	-	24	2687	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	888										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATGTTTCCAGAGTAACCAAA	0.398000													16	43					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33358849	33358849	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:33358849G>A	ENST00000334528.9	-	1	1236	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.P413S	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	173	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCCTTTCTGGGGGGCCGGATG	0.567000													18	86					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35796507	35796507	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:35796507G>A	ENST00000216122.4	+	2	230	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.A26T	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	26					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGAGGGGCAGGCCCGCAAATC	0.637000													9	57					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74970713	74970713	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:74970713C>T	ENST00000261978.4	-	31	4884	c.4498G>A	c.(4498-4500)Ggc>Agc	p.G1500S	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1456S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1500	EGF-like 17; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCACCGGCCGTTCGGGCAG	0.567000													12	27					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973793	22973793	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:22973793G>A	ENST00000374639.3	+	3	373	c.255G>A	c.(253-255)ggG>ggA	p.G85G	C1QC_ENST00000374637.1_Silent_p.G85G|C1QC_ENST00000374640.4_Silent_p.G85G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	85	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCATCCTGGGAAAAATGGCC	0.622000													14	52					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190130016	190130016	+	Silent	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:190130016T>C	ENST00000367462.3	-	7	1197	c.966A>G	c.(964-966)gaA>gaG	p.E322E	FAM5C_ENST00000534846.1_Silent_p.E220E|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		322						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)					ATAACTTGAATTCATCTGAAA	0.274000													9	69					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127821166	127821166	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:127821166A>T	ENST00000316724.5	-	9	1166	c.755T>A	c.(754-756)tTc>tAc	p.F252Y	BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000409400.1_Missense_Mutation_p.F221Y|BIN1_ENST00000393040.3_Missense_Mutation_p.F221Y|BIN1_ENST00000351659.3_Missense_Mutation_p.F252Y|BIN1_ENST00000376113.2_Missense_Mutation_p.F221Y|BIN1_ENST00000346226.3_Missense_Mutation_p.F221Y|BIN1_ENST00000352848.3_Missense_Mutation_p.F221Y|BIN1_ENST00000259238.4_Missense_Mutation_p.F221Y|BIN1_ENST00000348750.4_Missense_Mutation_p.F221Y|BIN1_ENST00000357970.3_Missense_Mutation_p.F252Y|BIN1_ENST00000393041.3_Missense_Mutation_p.F221Y	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	252	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCCTTGTGGAAGTTTTCCTC	0.632000													8	26					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83963383	83963383	+	Missense_Mutation	SNP	C	C	T	rs142401926		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:83963383C>T	ENST00000369705.3	-	7	895	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	ME1_ENST00000543031.1_Missense_Mutation_p.R185Q|ME1_ENST00000541327.1_Missense_Mutation_p.R94Q	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	260					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATACTGGTTTCGATACTTGTT	0.318000													16	80					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619381	108619381	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:108619381C>T	ENST00000218006.2	-	18	3457	c.3166G>A	c.(3166-3168)Gaa>Aaa	p.E1056K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1056					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGAAGGTTTCCTCTGTGCCT	0.403000													46	109					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39875853	39875853	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:39875853C>T	ENST00000260356.5	+	4	828	c.663C>T	c.(661-663)acC>acT	p.T221T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	221	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTTTGGAACCACACCAGAAG	0.522000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	120					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701831	16701831	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:16701831G>A	ENST00000513610.1	-	25	3127	c.2673C>T	c.(2671-2673)ctC>ctT	p.L891L	MYO10_ENST00000427430.2_Silent_p.L248L|MYO10_ENST00000515803.1_Silent_p.L230L|MYO10_ENST00000274203.9_Silent_p.L248L|MYO10_ENST00000505695.1_Silent_p.L230L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	891					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCTCCAGACGGAGGATCTCTT	0.562000													11	27					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390970	18390970	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:18390970A>C	ENST00000338745.6	-	11	3718	c.1984T>G	c.(1984-1986)Ttc>Gtc	p.F662V	SATB1_ENST00000417717.2_Missense_Mutation_p.F694V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.F662V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	662					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCTTGTATGAAACTCTGGAGG	0.527000													16	106					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062108	216062108	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:216062108G>A	ENST00000366943.2	-	41	8269	c.7883C>T	c.(7882-7884)cCa>cTa	p.P2628L	USH2A_ENST00000307340.3_Missense_Mutation_p.P2628L|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2628	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCTGGACTTGGGATCCCTTC	0.498000										HNSCC(13;0.011)			27	74					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968748	119968748	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:119968748G>A	ENST00000327554.2	+	13	1896	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	477										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGATCCTGGTGAAACTGCAGA	0.498000													11	72					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14863024	14863024	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:14863024G>A	ENST00000285046.5	+	1	2556	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	FGD5_ENST00000543601.1_Missense_Mutation_p.E575K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	816					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACAGCAAACGAAAATGATGG	0.522000													10	89					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059676	248059676	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:248059676G>A	ENST00000537741.1	+	3	1045	c.788G>A	c.(787-789)gGa>gAa	p.G263E	OR2W3_ENST00000360358.3_Missense_Mutation_p.G263E			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGCAGCCAGGAGCCAGTTCT	0.527000													30	113					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732306	8732306	+	Splice_Site	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:8732306C>T	ENST00000311434.9	-	11	1130	c.889_splice	c.e11-1	p.W297_splice	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	297					platelet activation	cytosol											CCAGTTCCTTCCCTGGGGTGG	0.607000													6	15					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71420166	71420166	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:71420166C>T	ENST00000392650.3	-	13	1649	c.1649G>A	c.(1648-1650)aGa>aAa	p.R550K	SDK2_ENST00000388726.3_Missense_Mutation_p.R550K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	550	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGAGCCGTTTCTGTCCAGGCG	0.597000													4	15					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054540	76054540	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:76054540G>A	ENST00000336517.4	+	2	452	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	ZP3_ENST00000394857.3_Missense_Mutation_p.E87K	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	87					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	p.E36*(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATGGACACAGAAGATGTGGT	0.587000													13	46					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176073	8176073	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:8176073G>A	ENST00000520004.1	-	6	4076	c.3812C>T	c.(3811-3813)gCc>gTc	p.A1271V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1271V			Q86YV5	SG223_HUMAN		1271	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CCGCAGCTGGGCGCGCACCTC	0.637000													17	40					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177954	92177954	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:92177954G>A	ENST00000212355.4	-	13	2477	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	TGFBR3_ENST00000370399.2_Missense_Mutation_p.P670L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P671L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	671	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CACTCTCTTGGGACTGTAGAA	0.418000													16	131					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965541	102965541	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:102965541G>A	ENST00000233954.1	+	10	1391	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	374					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTTTCAGATGGAAAGCTCTA	0.408000													21	101					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27420013	27420013	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:27420013G>C	ENST00000527372.1	-	33	5113	c.4933C>G	c.(4933-4935)Cgg>Ggg	p.R1645G	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1645G|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1608G|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1645G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1645					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGTCCCGCCGGTTCACCTGG	0.607000													4	23					0	0	1	0	0
CLEC18A	348174	broad.mit.edu	37	16	69988426	69988426	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:69988426C>T	ENST00000288040.6	+	3	593	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	CLEC18A_ENST00000568461.1_Missense_Mutation_p.H136Y|CLEC18A_ENST00000449317.2_Missense_Mutation_p.H136Y|CLEC18A_ENST00000393701.2_Missense_Mutation_p.H136Y	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	136	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GCGGTACAGCCACGCGGCAGG	0.617000													6	20					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30077263	30077263	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:30077263C>G	ENST00000431530.3	+	14	4118	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V	MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Missense_Mutation_p.L233V|MTUS2_ENST00000380808.2_Missense_Mutation_p.L323V	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1344						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCGATTAAACTCTCGCCCAC	0.577000													14	57					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9319581	9319581	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:9319581C>T	ENST00000378501.2	+	4	281	c.266C>T	c.(265-267)tCa>tTa	p.S89L	PLCB4_ENST00000334005.3_Missense_Mutation_p.S89L|PLCB4_ENST00000278655.4_Missense_Mutation_p.S89L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S89L|PLCB4_ENST00000378493.1_Missense_Mutation_p.S89L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S89L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	89					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						GTTGGAAAATCAGAAAATGAT	0.403000													21	82					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303307	153303307	+	Missense_Mutation	SNP	C	C	T	rs147105602		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:153303307C>T	ENST00000368739.3	-	9	1404	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R353Q			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	353					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.R353Q(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACAAGGTTCGGGCCACATC	0.562000													12	120					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109983754	109983754	+	Splice_Site	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:109983754C>A	ENST00000424296.2	-	6	520	c.444_splice	c.e6+1	p.K148_splice	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Splice_Site_p.K148_splice|AK9_ENST00000368948.2_Splice_Site_p.K148_splice	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATATCCTTACCTTTATATTGA	0.279000													16	51					6.31663e-08	6.47207e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179665349	179665349	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179665349C>A	ENST00000589042.1	-	4	580	c.356G>T	c.(355-357)aGc>aTc	p.S119I	TTN_ENST00000342175.6_Missense_Mutation_p.S119I|TTN_ENST00000359218.5_Missense_Mutation_p.S119I|TTN_ENST00000360870.5_Missense_Mutation_p.S119I|TTN_ENST00000591111.1_Missense_Mutation_p.S119I|TTN_ENST00000342992.6_Missense_Mutation_p.S119I|TTN_ENST00000460472.2_Missense_Mutation_p.S119I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	119	Ig-like 2.						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)			TCTCACTTGGCTTCCTTGTCT	0.522000													28	135					7.41945e-09	7.6362e-09	1	1	0
TRIM11	81559	broad.mit.edu	37	1	228582667	228582667	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:228582667G>A	ENST00000493030.2	-	5	4480	c.771C>T	c.(769-771)ttC>ttT	p.F257F	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.F382F			Q96F44	TRI11_HUMAN	tripartite motif containing 11	382					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				AGCTCCCCAGGAAGACCAGGA	0.637000													31	131					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437214	437214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:437214G>A	ENST00000338977.5	-	2	1054	c.1006C>T	c.(1006-1008)Ctt>Ttt	p.L336F	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.L348F|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTACGTAAAGGTTTGCGGAC	0.433000													11	93					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868924	108868924	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:108868924G>A	ENST00000329106.2	+	2	276	c.276G>A	c.(274-276)ctG>ctA	p.L92L	SULT1C3_ENST00000376700.1_Silent_p.L92L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	92						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCCTTGAACTGAAATTTCCCC	0.393000													11	58					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412641	139412641	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:139412641G>A	ENST00000277541.6	-	7	1278	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	401	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTACCCCGAGGGGCAGGTGC	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	9					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37381674	37381674	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:37381674C>T	ENST00000333461.5	-	1	451	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	28					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						ACCTTGGTTTCCTGGAGGGCG	0.716000													5	22					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97081945	97081945	+	Silent	SNP	A	A	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:97081945A>G	ENST00000335456.7	-	7	1410	c.1390T>C	c.(1390-1392)Ttg>Ctg	p.L464L	NUTM2F_ENST00000341207.4_Silent_p.L464L|NUTM2F_ENST00000253262.4_Silent_p.L479L					NUT family member 2F																		CTTAGGGCCAAGAAATCCATC	0.582000													64	158					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712359	41712359	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:41712359C>T	ENST00000310054.4	+	9	1697	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	CYP2S1_ENST00000542619.1_Missense_Mutation_p.P219L	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	494					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAAGTCCGTCCCACTGACCTT	0.622000													30	77					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158914673	158914673	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:158914673G>A	ENST00000367097.3	+	10	3057	c.1700G>A	c.(1699-1701)cGg>cAg	p.R567Q	TULP4_ENST00000367094.2_Missense_Mutation_p.R567Q	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	567					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R567L(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGGTCCCCACGGTTGCCCCTG	0.647000													28	57					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136609045	136609045	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:136609045C>T	ENST00000264156.2	-	13	1904	c.1844G>A	c.(1843-1845)aGg>aAg	p.R615K	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	615					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CACTGTAATCCTCCATGAAGA	0.458000													8	37					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43460316	43460316	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:43460316G>A	ENST00000331018.7	-	6	758	c.518C>T	c.(517-519)tCt>tTt	p.S173F	TTLL1_ENST00000266254.7_Missense_Mutation_p.S173F			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	173	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCCTTATTAGATTGAGACAC	0.413000													24	59					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635077	6635077	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:6635077G>A	ENST00000333172.6	+	3	1078	c.885G>A	c.(883-885)aaG>aaA	p.K295K	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.K295K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	295					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGACTGGCAAGGTGTGGGTCG	0.642000													17	64					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75323588	75323588	+	Silent	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:75323588T>C	ENST00000556084.2	-	2	842	c.843A>G	c.(841-843)acA>acG	p.T281T	PROX2_ENST00000556489.2_Silent_p.T508T|PROX2_ENST00000445876.1_Silent_p.T508T	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	508					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TTTTGGGATTTGTGACACCAT	0.418000													41	107					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191692	23191692	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:23191692C>T	ENST00000400191.3	+	5	1308	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.T430T|EPHB2_ENST00000374632.3_Silent_p.T430T|EPHB2_ENST00000544305.1_Silent_p.T430T|EPHB2_ENST00000374627.1_Silent_p.T424T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	430					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGAACATCACCACCAACCAGG	0.607000													9	84					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24727368	24727368	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:24727368C>T	ENST00000376454.3	+	5	836	c.806C>T	c.(805-807)gCg>gTg	p.A269V	KIAA1217_ENST00000376462.1_Missense_Mutation_p.A189V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A269V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A269V|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A190V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	269					embryonic skeletal system development	cytoplasm		p.A269V(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTGCACATGCGTTTAATCAC	0.413000													20	102					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28206718	28206718	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:28206718C>T	ENST00000344423.5	-	9	1485	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZNF395_ENST00000523202.1_Missense_Mutation_p.E452K|ZNF395_ENST00000523095.1_Missense_Mutation_p.E452K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	452					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCTGGGGCTCGCTGAAGCTT	0.617000													27	104					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33590564	33590564	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:33590564G>A	ENST00000404816.2	+	31	5058	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N	LTBP1_ENST00000418533.2_Missense_Mutation_p.D1201N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1570N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D1188N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1243N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1190N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1244N|LTBP1_ENST00000272273.5_Missense_Mutation_p.D467N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1569	TB 4.				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)				CCCCCTGAAGGATTCAGGTGA	0.542000													13	53					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73009121	73009121	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:73009121T>G	ENST00000268057.4	+	6	376	c.335T>G	c.(334-336)tTt>tGt	p.F112C	BBS4_ENST00000395205.2_Missense_Mutation_p.F120C|BBS4_ENST00000539603.1_Missense_Mutation_p.F100C|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	112	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TTTTACAGATTTCTTTTGGGA	0.313000									Bardet-Biedl syndrome				8	38					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691988	20691988	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:20691988G>A	ENST00000315519.2	+	1	198	c.120G>A	c.(118-120)gaG>gaA	p.E40E		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTCAAAGGGAGATGCAGAGCT	0.473000													45	102					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037539	64037539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:64037539G>A	ENST00000544785.1	-	2	458	c.458C>T	c.(457-459)cCc>cTc	p.P153L	BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GCACCGGAAGGGAATCTGGGT	0.607000													4	10					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813137	2813137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:2813137C>T	ENST00000602557.1	-	65	10526	c.9971G>A	c.(9970-9972)tGg>tAg	p.W3324*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W3146*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.W3324*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W3323*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W3147*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W3147*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3324	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTCCTGTCCATTTCATGTC	0.478000													11	69					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86388066	86388066	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:86388066G>T	ENST00000285379.5	+	5	714	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	162					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AGTTGTTGATGTGCTGGATTC	0.373000													8	35					0.0381472	0.0383145	1	1	0
KIAA1407	57577	broad.mit.edu	37	3	113697113	113697113	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:113697113G>A	ENST00000295878.3	-	16	2672	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	842										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACCAGGCCCTGAAAATCTTCT	0.423000													17	82					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155254496	155254496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:155254496C>T	ENST00000368358.3	+	4	1045	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	346						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			ATCGGCCATGCCACGGCACTC	0.612000													12	37					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114633	145114633	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:145114633G>A	ENST00000426825.1	-	3	313	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	78							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GTGCCCATGCGGATGCTGGCG	0.682000													12	44					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38407206	38407206	+	Silent	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:38407206C>A	ENST00000207870.3	+	6	576	c.486C>A	c.(484-486)ctC>ctA	p.L162L	XYLB_ENST00000542835.1_Silent_p.L25L	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	162					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCAGCTGCCTCACGGGGTCCC	0.667000													4	40					0.00909568	0.00917582	1	1	0
TMEM41B	440026	broad.mit.edu	37	11	9310020	9310020	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:9310020G>A	ENST00000528080.1	-	4	769	c.431C>T	c.(430-432)cCc>cTc	p.P144L	TMEM41B_ENST00000527813.1_Missense_Mutation_p.P144L	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	144						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TAGTGGAAAGGGATAAAGAAA	0.313000													6	41					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950128	198950128	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:198950128G>A	ENST00000428675.1	+	2	2285	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	PLCL1_ENST00000437704.2_Silent_p.E531E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	629	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGTACCCAGAGGATTTTGTTA	0.368000													20	66					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876152	4876152	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:4876152G>T	ENST00000399583.3	-	3	807	c.620C>A	c.(619-621)cCt>cAt	p.P207H	RADIL_ENST00000536091.1_Missense_Mutation_p.P207H|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	207					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCGGGGTGGAGGAGAGCTCCG	0.731000													9	25					0.00448238	0.00453186	1	1	0
MROH9	80133	broad.mit.edu	37	1	170955810	170955810	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:170955810C>T	ENST00000367759.4	+	10	992	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	MROH9_ENST00000367758.3_Silent_p.L280L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		AGCATCCATACTGATATTTAC	0.433000													33	98					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163910	150163910	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:150163910G>A	ENST00000307271.3	+	2	698	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	42						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGTTCAGTGATCAGACAGT	0.498000													77	146					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571830	166571830	+	Nonsense_Mutation	SNP	C	C	T	rs144704487		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:166571830C>T	ENST00000296946.2	-	9	1749	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	T_ENST00000366871.3_Nonsense_Mutation_p.W369*	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	427					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACACAGGTGTCCATGAGGCTA	0.612000									Chordoma, Familial Clustering of				41	133					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028264	21028264	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:21028264C>T	ENST00000381545.3	+	9	1042	c.823C>T	c.(823-825)Cca>Tca	p.P275S	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.P275S|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P275S|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P275S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	275					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTTCCATACCATTTTTTTT	0.363000													18	129					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	18					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188225437	188225437	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:188225437C>A	ENST00000409998.1	-	11	1450	c.669G>T	c.(667-669)atG>atT	p.M223I	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.M223I|CALCRL_ENST00000392370.3_Missense_Mutation_p.M223I|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	223						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AATTACAGCCCATCAGGTAAA	0.373000													5	68					1.23904e-05	1.26388e-05	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38950758	38950758	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:38950758G>A	ENST00000357387.3	-	31	3222	c.3192C>T	c.(3190-3192)atC>atT	p.I1064I	RICTOR_ENST00000296782.5_Silent_p.I1064I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1064					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATCTTCATTGATATCAAGGA	0.353000													32	133					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139258072	139258072	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:139258072C>T	ENST00000406875.3	-	15	3292	c.3198G>A	c.(3196-3198)atG>atA	p.M1066I	HIPK2_ENST00000428878.2_Missense_Mutation_p.M1039I	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1066	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAGCCTGGGCCATGGTGGGAG	0.677000													37	89					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605571	171605571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:171605571G>A	ENST00000037502.5	-	3	1068	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	337	Olfactomedin-like.		Q -> E (in GLC1A).|Q -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCAGCGCCCTGGAAATAGAGG	0.537000													15	100					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826508	43826508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:43826508G>A	ENST00000389420.3	-	20	2826	c.2827C>T	c.(2827-2829)Caa>Taa	p.Q943*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.Q97*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.Q943*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	943	TSP type-1 3.					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)		TCATCAACTTGAACAGTCTGT	0.418000													13	84					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375498	42375498	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:42375498C>T	ENST00000290472.3	-	8	664	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	190					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CATAGGACCCCTTCAGCACCA	0.602000													34	56					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913365	136913365	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:136913365G>A	ENST00000359015.4	-	23	3531	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	MAP3K5_ENST00000355845.4_Silent_p.I304I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1057					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438000													19	186					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945226	96945226	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:96945226C>T	ENST00000389672.5	+	4	1271	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	EPHA6_ENST00000470610.2_Silent_p.F411F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	316	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGGGTTATTTCCGAGCTGAAA	0.378000													28	103					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47542442	47542442	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:47542442C>T	ENST00000300527.4	+	20	1709	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	COL6A2_ENST00000397763.1_Silent_p.P535P|COL6A2_ENST00000357838.4_Silent_p.P535P|COL6A2_ENST00000409416.1_Silent_p.P535P|COL6A2_ENST00000310645.5_Silent_p.P535P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	535	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACGCGGCCCCGAGGTATGTG	0.642000													10	46					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796455	109796455	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:109796455C>T	ENST00000297459.3	-	2	1051	c.873G>A	c.(871-873)ctG>ctA	p.L291L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	291					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGGACAGTTCCAGAGTGTTTT	0.403000													18	66					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74476273	74476273	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:74476273C>T	ENST00000323940.5	-	14	1469	c.1224G>A	c.(1222-1224)cgG>cgA	p.R408R	STRA6_ENST00000423167.2_Silent_p.R399R|STRA6_ENST00000416286.3_Silent_p.R400R|STRA6_ENST00000395105.4_Silent_p.R408R|STRA6_ENST00000563965.1_Silent_p.R447R|STRA6_ENST00000535552.1_Silent_p.R445R|STRA6_ENST00000449139.2_Silent_p.R408R|STRA6_ENST00000574278.1_Silent_p.R423R|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	408				R -> Q (in Ref. 3; CAD97655).	adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GATGGGGACTCCGATGCAAGG	0.612000													39	73					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580552	39580552	+	RNA	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:39580552C>T	ENST00000432141.1	+	0	674					NR_027695.1																						GGTTTGCCATCGAAGGAAAAC	0.408000													69	279					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037074	33037074	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:33037074G>T	ENST00000419277.1	-	4	479	c.350C>A	c.(349-351)cCc>cAc	p.P117H	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.P117H|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	117	Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CACCTCAGGGGGATCTGGAAG	0.572000													8	79					0.000157383	0.000159472	1	1	0
VOPP1	81552	broad.mit.edu	37	7	55565330	55565330	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:55565330G>A	ENST00000285279.5	-	3	367	c.167C>T	c.(166-168)tCc>tTc	p.S56F	VOPP1_ENST00000545390.1_Missense_Mutation_p.S53F|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000433959.1_Missense_Mutation_p.S47F|VOPP1_ENST00000418904.1_Missense_Mutation_p.S39F|VOPP1_ENST00000454227.1_Intron|VOPP1_ENST00000427700.1_Missense_Mutation_p.S54F|VOPP1_ENST00000453256.1_5'UTR	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CCTCTGTATGGAGAGGGCCCG	0.617000													5	77					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120012322	120012322	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:120012322C>T	ENST00000354888.5	+	5	1587	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	STEAP3_ENST00000393106.2_Silent_p.L361L|STEAP3_ENST00000393107.2_Silent_p.L361L|STEAP3_ENST00000393108.2_Silent_p.L361L|STEAP3_ENST00000450943.2_Silent_p.L361L|STEAP3_ENST00000409811.1_Silent_p.L361L|STEAP3_ENST00000393110.2_Silent_p.L371L|STEAP3_ENST00000425223.2_Silent_p.L361L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	361	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AGATCTACCTCTCCCTGGGAG	0.587000													30	57					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542549	2542549	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:2542549C>T	ENST00000358864.1	+	4	462	c.447C>T	c.(445-447)tcC>tcT	p.S149S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	149	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTCCCTGTCCGAGGAGGAAC	0.607000													11	50					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257737	70257737	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:70257737C>T	ENST00000310961.5	+	5	634	c.216C>T	c.(214-216)aaC>aaT	p.N72N	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.N67N|LRRC7_ENST00000370958.1_Silent_p.N105N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	67						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATTGTTCAACTGTCAAGCTC	0.299000													14	84					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321406	90321406	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:90321406C>T	ENST00000469640.2	+	27	3870	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F	DAPK1_ENST00000358077.5_Silent_p.F1140F|DAPK1_ENST00000491893.1_Silent_p.F1074F|DAPK1_ENST00000408954.3_Silent_p.F1140F|DAPK1_ENST00000472284.1_Silent_p.F1140F			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1140					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCACCCCCTTCCCATGTGGCA	0.607000									Chronic Lymphocytic Leukemia, Familial Clustering of				10	57					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195474130	195474130	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:195474130C>T	ENST00000463781.3	-	25	16615	c.16156G>A	c.(16156-16158)Ggg>Agg	p.G5386R	MUC4_ENST00000346145.4_Missense_Mutation_p.G1150R|MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2143					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGAACGTCCCGACCCCCAGC	0.637000													8	137					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10574552	10574552	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:10574552C>T	ENST00000380702.2	+	15	1761	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	PDE4A_ENST00000293683.5_Silent_p.I583I|PDE4A_ENST00000440014.2_Silent_p.I548I|PDE4A_ENST00000592685.1_Silent_p.I587I|PDE4A_ENST00000344979.3_Silent_p.I370I|PDE4A_ENST00000352831.6_Silent_p.I609I			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	609	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGACCGCATCATGGCCGAGT	0.627000													31	53					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69371372	69371372	+	Splice_Site	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:69371372C>T	ENST00000193403.6	-	7	1059	c.676_splice	c.e7+1	p.D226_splice	ACTN1_ENST00000538545.2_Splice_Site_p.D226_splice|ACTN1_ENST00000394419.4_Splice_Site_p.D226_splice|ACTN1_ENST00000376839.3_Splice_Site_p.D161_splice|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000438964.2_Splice_Site_p.D226_splice	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	226	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGCCTTTCACCTTCGGCATCC	0.572000													23	63					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24192196	24192196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:24192196G>A	ENST00000303531.7	+	13	1632	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	PRKCB_ENST00000321728.7_Missense_Mutation_p.D494N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	494	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAACATCTGGGATGGGGTGAC	0.507000													17	106					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34035136	34035136	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:34035136C>T	ENST00000373381.4	-	52	8145	c.7969G>A	c.(7969-7971)Gga>Aga	p.G2657R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2659	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGAGCTCTCCACAGGAGATG	0.522000													11	49					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615338	105615338	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:105615338G>A	ENST00000331782.3	-	14	2245	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	JAG2_ENST00000347004.2_Silent_p.S576S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	614	EGF-like 10; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCCTGGCTGGCTGACGCAGC	0.652000													6	19					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120362782	120362782	+	Silent	SNP	A	A	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:120362782A>G	ENST00000602047.1	+	12	1304	c.192A>G	c.(190-192)tcA>tcG	p.S64S	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Silent_p.S350S			Q4G0U5	PCDP1_HUMAN		350						cilium	calmodulin binding					Colorectal(110;0.196)					CTGAAATTTCAAAAACGAGAC	0.383000													18	65					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72536920	72536920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:72536920G>A	ENST00000299290.1	-	7	1068	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	TBATA_ENST00000456372.2_Nonsense_Mutation_p.Q227*	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		AGCAGCTCCTGATCCTGAAGG	0.617000													9	25					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28908236	28908236	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:28908236G>A	ENST00000257192.4	+	4	513	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	101	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGGATCTTTGTCATTAATCA	0.388000													10	62					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067669	190067669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:190067669G>A	ENST00000367462.3	-	8	2011	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S	FAM5C_ENST00000534846.1_Missense_Mutation_p.P492S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		594						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)					TCCCAGTCTGGAAAGCTGTTT	0.463000													58	240					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620164	112620164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:112620164G>A	ENST00000341068.3	-	10	1836	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	355					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCAGGAGAATGAGCACG	0.418000													7	40					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170797381	170797381	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:170797381T>C	ENST00000436636.2	-	28	3718	c.3374A>G	c.(3373-3375)aAt>aGt	p.N1125S	TNIK_ENST00000369326.5_Missense_Mutation_p.N1103S|TNIK_ENST00000357327.5_Missense_Mutation_p.N1096S|TNIK_ENST00000341852.6_Missense_Mutation_p.N1041S|TNIK_ENST00000284483.8_Missense_Mutation_p.N1117S|TNIK_ENST00000470834.1_Missense_Mutation_p.N1088S|TNIK_ENST00000538048.1_Missense_Mutation_p.N1077S|TNIK_ENST00000460047.1_Missense_Mutation_p.N1062S|TNIK_ENST00000488470.1_Missense_Mutation_p.N1070S|TNIK_ENST00000475336.1_Missense_Mutation_p.N1033S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1125	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTGGGTCATTATGTAGTAT	0.343000													5	40					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848402	78848402	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:78848402C>T	ENST00000545128.1	+	22	3294	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	769					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCTGTGTTTCGAACTGCCCC	0.488000													16	73					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134018460	134018460	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:134018460G>A	ENST00000299106.4	+	7	890	c.731G>A	c.(730-732)gGa>gAa	p.G244E	JAM3_ENST00000441717.3_Missense_Mutation_p.G193E|JAM3_ENST00000529443.2_Missense_Mutation_p.G289E			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	244					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AACATTGGCGGAATTATTGGG	0.488000													8	78					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347208	57347208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:57347208G>A	ENST00000361249.3	+	5	651	c.555G>A	c.(553-555)tgG>tgA	p.W185*		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	185	MACPF.				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						ATGGGGAATGGAGGGAGCTTC	0.458000													30	115					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540501	101540501	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:101540501G>A	ENST00000422132.1	+	5	1580	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	NXPE3_ENST00000477909.1_Silent_p.R461R|NXPE3_ENST00000491511.1_Silent_p.R461R|NXPE3_ENST00000273347.5_Silent_p.R461R					neurexophilin and PC-esterase domain family, member 3																		GGCGGCTCAGGAACATCCGTC	0.582000													12	86					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918698	154918698	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:154918698G>A	ENST00000368463.3	-	10	1523	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	PBXIP1_ENST00000542459.1_Silent_p.D329D|PBXIP1_ENST00000539880.1_Silent_p.D311D|PBXIP1_ENST00000368465.1_Silent_p.D455D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	484					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCCTTCCGGTCTCTCTGCC	0.557000													74	352					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	806426	806426	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:806426T>G	ENST00000356948.6	+	10	1412	c.989T>G	c.(988-990)gTc>gGc	p.V330G	PTBP1_ENST00000349038.4_Missense_Mutation_p.V304G|PTBP1_ENST00000394601.4_Missense_Mutation_p.V323G|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	304					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTTCCGAACGTCCACGGCGCC	0.721000													5	12					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072331	34072331	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:34072331C>T	ENST00000254466.6	-	6	2212	c.2185G>A	c.(2185-2187)Gct>Act	p.A729T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A713T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	729					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGTAGAAGCCGAGCAGTCC	0.622000													21	169					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257759	18257759	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:18257759C>T	ENST00000286479.3	+	2	353	c.246C>T	c.(244-246)atC>atT	p.I82I	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	82					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACCACAATCGGTTTTCAGA	0.468000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				36	114					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160510242	160510242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:160510242C>T	ENST00000356956.1	+	43	6572	c.6424C>T	c.(6424-6426)Cct>Tct	p.P2142S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2142					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CATCACCAACCCTATAAATGG	0.463000													7	52					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400597	10400597	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:10400597G>A	ENST00000397077.1	-	13	2354	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	ATP2B2_ENST00000360273.2_Silent_p.I638I|ATP2B2_ENST00000343816.4_Silent_p.I624I|ATP2B2_ENST00000352432.4_Silent_p.I638I|ATP2B2_ENST00000383800.4_Silent_p.I593I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	638					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCATTGAGGATTTTGCAGC	0.607000													5	26					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30075932	30075932	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:30075932G>T	ENST00000376734.3	-	6	906	c.781C>A	c.(781-783)Cag>Aag	p.Q261K	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.Q261K|TRIM31_ENST00000485864.1_5'UTR	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	261						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTGAGAAACTGAAACTCTTCA	0.458000													9	42					1.12685e-05	1.152e-05	1	1	0
LIFR	3977	broad.mit.edu	37	5	38482185	38482185	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:38482185G>A	ENST00000263409.4	-	20	2968	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	LIFR_ENST00000453190.2_Missense_Mutation_p.R936C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	936					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCATCAGAGCGATCTTCAGGA	0.453000			T	PLAG1	salivary adenoma								83	191					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718014	101718014	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:101718014T>C	ENST00000254190.3	-	3	2463	c.1988A>G	c.(1987-1989)tAt>tGt	p.Y663C	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	663					chondroitin sulfate biosynthetic process	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)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTTGGGTCATACTGGCTGAA	0.433000													14	159					0	0	1	0	0
GOLGA8EP	390535	broad.mit.edu	37	15	23444016	23444016	+	RNA	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:23444016G>A	ENST00000526079.1	+	0	1660					NR_027407.1|NR_033350.1																						GGACACGGAGGAGAACATCTG	0.617000													13	83					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155571004	155571004	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:155571004G>A	ENST00000461783.3	+	23	5125	c.3852G>A	c.(3850-3852)gaG>gaA	p.E1284E	TIAM2_ENST00000360366.4_Silent_p.E1308E|TIAM2_ENST00000456144.1_Silent_p.E1284E|TIAM2_ENST00000367174.2_Silent_p.E660E|TIAM2_ENST00000456877.2_Silent_p.E596E|TIAM2_ENST00000275246.7_Silent_p.E209E|TIAM2_ENST00000529824.2_Silent_p.E1284E|TIAM2_ENST00000318981.5_Silent_p.E1284E|TIAM2_ENST00000528391.2_Silent_p.E620E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1284	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGCAATGGAGAAAGTAGCGA	0.393000													11	32					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134714072	134714072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:134714072C>T	ENST00000370752.4	+	15	2702	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	790										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGAAGTTCGAAAGTTTGG	0.373000													32	60					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505715	130505715	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:130505715G>T	ENST00000532763.1	-	5	560	c.431C>A	c.(430-432)tCc>tAc	p.S144Y	SAMD3_ENST00000439090.2_Missense_Mutation_p.S146Y|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.S146Y|SAMD3_ENST00000437477.2_Missense_Mutation_p.S146Y|SAMD3_ENST00000457563.2_Missense_Mutation_p.S170Y|SAMD3_ENST00000368134.2_Missense_Mutation_p.S146Y			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	146										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAAAACATAGGACTTCGTCCA	0.373000													16	39					6.72482e-11	6.93687e-11	1	1	0
CIITA	4261	broad.mit.edu	37	16	10989528	10989528	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:10989528C>T	ENST00000324288.8	+	3	335	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P68S	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	68	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTCCCAGAACCCGACACAGA	0.552000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								9	44					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884782	160884782	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:160884782G>A	ENST00000283243.7	-	6	1252	c.1046C>T	c.(1045-1047)aCc>aTc	p.T349I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.T349I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	349	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATGGCAAGGTGGACTCACA	0.358000													30	104					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75682143	75682143	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:75682143A>T	ENST00000394947.3	-	16	3185	c.2871T>A	c.(2869-2871)gaT>gaA	p.D957E	SIN3A_ENST00000394949.4_Missense_Mutation_p.D957E|SIN3A_ENST00000360439.4_Missense_Mutation_p.D957E	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	957					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTGGGTAATAATCTTCTACAT	0.473000													53	122					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872844	51872844	+	Silent	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:51872844G>T	ENST00000371497.5	+	2	3734	c.2847G>T	c.(2845-2847)ctG>ctT	p.L949L	TSHZ2_ENST00000329613.6_Silent_p.L946L|TSHZ2_ENST00000603338.2_Silent_p.L946L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	949					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AATCTCACCTGGGTTTCCAAA	0.502000													33	80					1.62565e-12	1.68069e-12	1	1	0
CCBE1	147372	broad.mit.edu	37	18	57106806	57106806	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:57106806G>A	ENST00000439986.4	-	9	957	c.920C>T	c.(919-921)cCa>cTa	p.P307L	CCBE1_ENST00000398179.2_Missense_Mutation_p.P36L	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	307	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGCCCCTGGTGGACCCTGTAA	0.418000													35	130					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5145507	5145507	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:5145507T>G	ENST00000427587.4	-	2	173	c.105A>C	c.(103-105)gaA>gaC	p.E35D	FAM86A_ENST00000587133.1_Missense_Mutation_p.E35D|FAM86A_ENST00000458008.4_Missense_Mutation_p.E35D	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	35										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TTAACTTTGCTTCTAAGCTCT	0.478000													26	85					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35835688	35835688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:35835688C>T	ENST00000237530.6	+	7	1014	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	RPN2_ENST00000373622.5_Nonsense_Mutation_p.Q203*	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	235					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCAGGTCATCCAGCTGATGAA	0.527000													23	83					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180606	124180606	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:124180606C>T	ENST00000357821.2	-	1	127	c.57G>A	c.(55-57)caG>caA	p.Q19Q		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTCTGCTTGCTGTGTTAAAC	0.448000													24	131					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184743	105184743	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:105184743G>A	ENST00000369797.3	+	20	2860	c.2766G>A	c.(2764-2766)ctG>ctA	p.L922L	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	922					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTTCTAGCTGAGGAAAGGCA	0.567000													23	53					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73009120	73009120	+	Splice_Site	SNP	T	T	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:73009120T>A	ENST00000268057.4	+	6	375	c.332_splice	c.e6-1	p.F112_splice	BBS4_ENST00000395205.2_Splice_Site_p.F120_splice|BBS4_ENST00000539603.1_Splice_Site_p.F100_splice|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	112	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTTTTACAGATTTCTTTTGGG	0.313000									Bardet-Biedl syndrome				8	37					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396828	197396828	+	Silent	SNP	A	A	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:197396828A>T	ENST00000367397.1	+	3	1374	c.516A>T	c.(514-516)ggA>ggT	p.G172G	CRB1_ENST00000367400.3_Silent_p.G791G|CRB1_ENST00000367399.2_Silent_p.G679G|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.G272G|CRB1_ENST00000535699.1_Silent_p.G722G			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	791	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTAATGATGGAAATGTCCACT	0.373000													13	47					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360080	21360080	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:21360080G>C	ENST00000304639.3	+	2	293	c.235G>C	c.(235-237)Gtt>Ctt	p.V79L		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	79					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TGCTAATGTAGTTAATGTTTG	0.428000													35	111					0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41836103	41836103	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:41836103G>A	ENST00000301691.2	-	1	53	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	3					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCCAGTGGGAGCTGCATGGTA	0.602000													12	48					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865578	118865578	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:118865578G>A	ENST00000295622.1	+	1	582	c.542G>A	c.(541-543)aGa>aAa	p.R181K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	181										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCGACCACAGAATGGCAGGC	0.522000													17	97					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98557092	98557092	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:98557092C>T	ENST00000359863.4	+	44	6656	c.6447C>T	c.(6445-6447)ttC>ttT	p.F2149F	TRRAP_ENST00000355540.3_Silent_p.F2131F|TRRAP_ENST00000446306.3_Silent_p.F2130F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2149	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAGTGGTTCGACAAGCTGC	0.617000													18	70					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49935540	49935540	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:49935540G>A	ENST00000257981.6	+	3	698	c.438G>A	c.(436-438)aaG>aaA	p.K146K	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	146					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACAGATGGAAGGAGACAGGTA	0.602000													17	202					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41052595	41052595	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:41052595G>A	ENST00000399564.4	-	12	1652	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.S401Y(1)									TGCAAACTGGGAGAAGACATA	0.398000													11	58					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30557594	30557594	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:30557594C>T	ENST00000326195.8	+	22	2188	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	ABCF1_ENST00000376545.3_Silent_p.F654F|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	692	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAATTGGCTTCTTCAACCAGC	0.547000													26	128					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979706	240979706	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:240979706C>T	ENST00000366565.1	-	11	1075	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	RGS7_ENST00000366563.1_Missense_Mutation_p.G232S|RGS7_ENST00000366564.1_Missense_Mutation_p.G232S|RGS7_ENST00000366562.4_Missense_Mutation_p.G232S|RGS7_ENST00000401882.1_Missense_Mutation_p.G179S|RGS7_ENST00000407727.1_Missense_Mutation_p.G232S|RGS7_ENST00000331110.7_Missense_Mutation_p.G206S|RGS7_ENST00000348120.2_Missense_Mutation_p.G179S|RGS7_ENST00000446183.2_Missense_Mutation_p.G148S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	232					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTGTAAACCATAGACAGAC	0.338000													25	107					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002411	30002411	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:30002411G>A	ENST00000279394.3	+	19	3075	c.2672G>A	c.(2671-2673)cGa>cAa	p.R891Q		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	772	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGCTCCGAGCGAATCCGCAGT	0.662000													11	66					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430858	78430858	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:78430858G>A	ENST00000370767.1	-	8	618	c.531C>T	c.(529-531)ttC>ttT	p.F177F	FUBP1_ENST00000436586.2_Silent_p.F198F|FUBP1_ENST00000370768.2_Silent_p.F177F			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	177					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGCCATGATGGAAGCCAGGAG	0.423000			"""F, N"""		oligodendroglioma								36	136					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072515	108072515	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:108072515G>A	ENST00000357759.5	+	4	720	c.306G>A	c.(304-306)ggG>ggA	p.G102G	HHLA2_ENST00000489514.2_Silent_p.G102G|HHLA2_ENST00000491820.1_Silent_p.G102G|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000467761.1_Silent_p.G102G	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTCAAAATGGGAATGCGTCGC	0.403000													13	46					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26857820	26857820	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:26857820G>A	ENST00000226247.2	+	5	913	c.884G>A	c.(883-885)aGc>aAc	p.S295N	FOXN1_ENST00000579795.1_Missense_Mutation_p.S295N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	295					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTTCCCGTCAGCGAGATCTAC	0.527000													7	65					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70913277	70913277	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:70913277G>A	ENST00000393567.2	-	62	10630	c.10480C>T	c.(10480-10482)Ctc>Ttc	p.L3494F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3494										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)				CTCTTAAAGAGGAGCAAGGGG	0.537000													4	39					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2463909	2463909	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:2463909G>A	ENST00000278772.4	-	6	2185	c.1698C>T	c.(1696-1698)gtC>gtT	p.V566V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCCTCTGGTGGACAAGGAGGA	0.507000													23	92					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525692	84525692	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:84525692G>A	ENST00000360700.4	+	10	2168	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	ZNF711_ENST00000276123.3_Missense_Mutation_p.V382M|ZNF711_ENST00000373165.3_Missense_Mutation_p.V382M|ZNF711_ENST00000542798.1_Missense_Mutation_p.V224M|ZNF711_ENST00000395402.1_Missense_Mutation_p.V390M			Q9Y462	ZN711_HUMAN	zinc finger protein 711	382					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCCCCTCACAGTGTACCCTTG	0.338000													4	18					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723582	142723582	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:142723582G>A	ENST00000350513.2	-	1	700	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GTAGGTGTAGGAGACAATCGT	0.453000													15	150					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92058242	92058242	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:92058242C>T	ENST00000256343.3	-	23	2970	c.2814G>A	c.(2812-2814)agG>agA	p.R938R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	938					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTACTTTTTCCCTGCAATCCG	0.363000													32	68					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205497011	205497011	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:205497011C>T	ENST00000360066.2	+	9	1120	c.819C>T	c.(817-819)atC>atT	p.I273I	CDK18_ENST00000506784.1_Silent_p.I303I|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.I273I	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	271	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACCTGCTCATCAACGAGAGGG	0.647000													36	112					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081237	7081237	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:7081237G>A	ENST00000299481.4	+	9	3092	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	916					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACAAGACAATGGAGTGAAGCT	0.418000													41	201					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266963	107266963	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:107266963C>T	ENST00000334726.2	+	1	509	c.420C>T	c.(418-420)acC>acT	p.T140T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGGAGAACCTGTGTGCAGA	0.532000													31	87					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:100774643C>T	ENST00000323346.5	+	2	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S89F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000													10	117					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354795	31354795	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:31354795G>A	ENST00000460581.2	+	8	1139	c.593G>A	c.(592-594)gGg>gAg	p.G198E	COCH_ENST00000382493.4_Missense_Mutation_p.G161E|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.G310E|COCH_ENST00000396618.3_Missense_Mutation_p.G310E|COCH_ENST00000475087.1_Missense_Mutation_p.G310E			O43405	COCH_HUMAN	cochlin	310	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAAGAACTGGGGATGGTTCAG	0.458000													30	61					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123586	40123586	+	Silent	SNP	T	T	A	rs114198420	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:40123586T>A	ENST00000261435.6	+	9	4271	c.3855T>A	c.(3853-3855)tcT>tcA	p.S1285S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1285						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CACATTTCTCTGATATTTTTA	0.284000													7	76					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780587	96780587	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:96780587G>A	ENST00000409345.3	-	1	1397	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	437					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGATCCTCCGGAAGGCACGGC	0.637000													6	20					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436958	72436958	+	Missense_Mutation	SNP	C	C	T	rs147088573		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:72436958C>T	ENST00000392627.1	+	2	2304	c.1178C>T	c.(1177-1179)cCg>cTg	p.P393L	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P360L|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P33L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	348						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ATGGATGAGCCGGTTGCAGGT	0.557000													11	43					0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54708911	54708911	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:54708911T>C	ENST00000371320.3	-	10	1123	c.713A>G	c.(712-714)aAc>aGc	p.N238S	SSBP3_ENST00000371319.3_Missense_Mutation_p.N211S|SSBP3_ENST00000417664.2_Missense_Mutation_p.N128S|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.N218S	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	238	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						gcCTTACATGTTAATCCCGGG	0.587000													40	210					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779082	52779082	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:52779082C>T	ENST00000257951.3	-	1	354	c.288G>A	c.(286-288)ggG>ggA	p.G96G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	96	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCCCTAGGCCCCAGACCAA	0.597000													34	124					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325265	77325265	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:77325265C>T	ENST00000282849.5	-	21	3718	c.3300G>A	c.(3298-3300)aaG>aaA	p.K1100K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1100	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K1100N(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATTTGGTTTCTTAATATTAC	0.522000													30	218					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26603073	26603073	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:26603073G>A	ENST00000252992.4	+	13	2081	c.1950G>A	c.(1948-1950)caG>caA	p.Q650Q	CEP85_ENST00000451429.2_Silent_p.Q599Q|CEP85_ENST00000469609.1_3'UTR	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	650						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TGACACTCCAGGAACACCTGC	0.552000													13	61					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678950	130678950	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:130678950G>A	ENST00000338616.3	+	1	1001	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGGCAATAAGGAAAGTTATGT	0.378000													27	78					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17657608	17657608	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:17657608G>A	ENST00000375448.4	+	2	263	c.237G>A	c.(235-237)acG>acA	p.T79T	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Silent_p.T79T	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	79			T -> M (in dbSNP:rs35809521).		chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGACCCTGACGATGAAAGTGG	0.602000													19	74					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157414029	157414029	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:157414029C>T	ENST00000310454.6	+	9	1472	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	GPD2_ENST00000438166.2_Missense_Mutation_p.P367L|GPD2_ENST00000540309.1_Missense_Mutation_p.P367L|GPD2_ENST00000409125.4_Missense_Mutation_p.P140L|GPD2_ENST00000409674.1_Missense_Mutation_p.P367L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	367					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CATCCAATTCCTTCAGAAGAA	0.413000													8	55					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61574223	61574223	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:61574223C>T	ENST00000577647.1	+	13	1891	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	ACE_ENST00000490216.2_Missense_Mutation_p.P616S|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Missense_Mutation_p.P395S|ACE_ENST00000413513.3_Missense_Mutation_p.P575S|ACE_ENST00000290863.6_Missense_Mutation_p.P616S|ACE_ENST00000290866.4_Missense_Mutation_p.P1190S			P12821	ACE_HUMAN	angiotensin I converting enzyme	1190	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACGGGCCAGCCCAACATGAG	0.642000													8	42					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914708	32914708	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:32914708C>T	ENST00000544455.1	+	11	6443	c.6216C>T	c.(6214-6216)tcC>tcT	p.S2072S	BRCA2_ENST00000380152.3_Silent_p.S2072S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2072			S -> C (in BC).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGAAAGTTCCTTACACAAAG	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			32	100					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844317	131844317	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:131844317G>A	ENST00000359827.3	-	25	5537	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	PLXNA4_ENST00000321063.4_Silent_p.I1525I			Q9HCM2	PLXA4_HUMAN	plexin A4	1525						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGACCTGAGTGATGGTGTCAC	0.547000													126	271					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814559	137814559	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:137814559G>A	ENST00000409968.1	+	3	887	c.709G>A	c.(709-711)Gag>Aag	p.E237K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E206K|THSD7B_ENST00000543459.1_Missense_Mutation_p.E96K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E237K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTTGGGGAAGAGGAATATAC	0.453000													39	182					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369151	86369151	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:86369151G>A	ENST00000400286.2	-	2	2091	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	498						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)		ATTACTTACAGGTAGATGGGT	0.403000													21	89					0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114956	124114956	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:124114956G>A	ENST00000424014.2	-	3	448	c.240C>T	c.(238-240)tcC>tcT	p.S80S	EIF2B1_ENST00000537073.1_Silent_p.S80S|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Silent_p.S67S	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	80					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTATTCCAGGGAGGCAAGAC	0.537000													11	73					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172011255	172011255	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:172011255C>T	ENST00000358155.4	+	8	1275	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	DNM3_ENST00000367731.1_Missense_Mutation_p.H367Y|DNM3_ENST00000367733.2_Missense_Mutation_p.H367Y|DNM3_ENST00000355305.5_Missense_Mutation_p.H367Y|DNM3_ENST00000520906.1_Missense_Mutation_p.H367Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	367					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTATTTTTCATGAACGCTT	0.358000													17	58					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152293353	152293353	+	Missense_Mutation	SNP	C	C	T	rs145491800		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:152293353C>T	ENST00000243326.4	+	11	1691	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	RIF1_ENST00000444746.2_Missense_Mutation_p.P403L|RIF1_ENST00000428287.2_Missense_Mutation_p.P403L|RIF1_ENST00000433166.2_Missense_Mutation_p.R333C|RIF1_ENST00000430328.2_Missense_Mutation_p.P403L|RIF1_ENST00000453091.2_Missense_Mutation_p.P403L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	403					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCTTCCTCCCCGTACGGAGCC	0.398000													12	38					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002148	98002148	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:98002148G>A	ENST00000355273.2	+	1	417	c.417G>A	c.(415-417)gtG>gtA	p.V139V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TATATCCAGTGATTATGAACA	0.373000													14	104					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25471035	25471035	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:25471035G>A	ENST00000264709.3	-	7	1063	c.726C>T	c.(724-726)gcC>gcT	p.A242A	DNMT3A_ENST00000380746.4_Silent_p.A53A|DNMT3A_ENST00000402667.1_Silent_p.A19A|DNMT3A_ENST00000321117.5_Silent_p.A242A	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	242	Interaction with DNMT1 and DNMT3B.				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)					CAGGAGGGCTGGCCTCCTCCA	0.607000			"""Mis, F, N, S"""		AML								14	81					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47674324	47674324	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:47674324G>A	ENST00000397708.1	-	20	4372	c.4118C>T	c.(4117-4119)tCc>tTc	p.S1373F	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1373F|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1373					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACTCTCTGGGGACTGCTCCTC	0.617000													11	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046600	9046600	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:9046600C>T	ENST00000397910.4	-	5	35234	c.35031G>A	c.(35029-35031)cgG>cgA	p.R11677R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11679	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						AGGGAACAGTCCGAATTGGAA	0.512000													22	77					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77451003	77451003	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:77451003G>A	ENST00000560626.2	-	5	3648	c.3173C>T	c.(3172-3174)cCt>cTt	p.P1058L	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1058L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1058					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGGATCCCGAGGAGAAAAATC	0.438000													28	51					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77451004	77451004	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:77451004G>A	ENST00000560626.2	-	5	3647	c.3172C>T	c.(3172-3174)Cct>Tct	p.P1058S	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1058S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1058					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGATCCCGAGGAGAAAAATCC	0.438000													28	49					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52239921	52239921	+	Silent	SNP	C	C	T	rs151137611		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:52239921C>T	ENST00000394965.2	+	7	1227	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ALAS1_ENST00000484952.1_Silent_p.F289F|ALAS1_ENST00000469224.1_Silent_p.F289F|ALAS1_ENST00000310271.2_Silent_p.F289F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	289					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTAGTAAATTCCATGTGGACT	0.448000													13	53					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729660	13729660	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:13729660G>A	ENST00000265104.4	-	69	11875	c.11771C>T	c.(11770-11772)tCa>tTa	p.S3924L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3924					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGGTCTAATGAGGCACCTCC	0.308000									Kartagener syndrome				11	58					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11608448	11608448	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:11608448C>G	ENST00000262442.3	+	26	5566	c.5498C>G	c.(5497-5499)tCc>tGc	p.S1833C	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1833C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1833	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTTGTATTCCTATGAGTAC	0.517000													22	70					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79968740	79968740	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:79968740G>A	ENST00000306729.7	+	10	1330	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	ASPSCR1_ENST00000306739.4_Silent_p.E411E|ASPSCR1_ENST00000580534.1_Silent_p.E334E	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	411	UBX.						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCCAGCGAGACAGGTGGGC	0.692000			T	TFE3	alveolar soft part sarcoma								14	54					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43681761	43681761	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:43681761T>C	ENST00000372801.1	+	11	1387	c.1340T>C	c.(1339-1341)aTa>aCa	p.I447T	STK4_ENST00000372806.3_Intron|STK4_ENST00000499879.2_Intron|STK4_ENST00000396731.4_Missense_Mutation_p.I447T			Q13043	STK4_HUMAN	serine/threonine kinase 4	0	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GGAAAAGACATATGTATCCAA	0.378000													36	72					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744447	25744447	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:25744447C>T	ENST00000357816.2	-	3	1429	c.954G>A	c.(952-954)caG>caA	p.Q318Q	AMER2_ENST00000515384.1_Silent_p.Q437Q|AMER2_ENST00000381853.3_Silent_p.Q318Q					APC membrane recruitment protein 2																		CCCAGAACTCCTGTAGATAGG	0.652000													10	35					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100219419	100219419	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:100219419C>T	ENST00000370552.3	-	12	1750	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	HPSE2_ENST00000404542.1_Missense_Mutation_p.R452Q|HPSE2_ENST00000370549.1_Missense_Mutation_p.R506Q|HPSE2_ENST00000370546.1_3'UTR	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	564					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.R564Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGGCCGGCCCGAAGGGGGCG	0.552000													14	34					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19757947	19757947	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:19757947G>A	ENST00000357324.6	-	22	3122	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S	ATP13A1_ENST00000291503.5_Silent_p.S914S	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1032					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTTGGAACGGGAGATGAAGA	0.612000													8	34					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003070	92003070	+	RNA	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:92003070C>T	ENST00000362310.2	+	0	74					NR_029488.1																						AGTGCTCCTTCTGGCATAAGA	0.383000													25	129					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32410669	32410669	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:32410669C>T	ENST00000332351.3	-	10	1773	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	WT1_ENST00000530998.1_Missense_Mutation_p.D268N|WT1_ENST00000379079.2_Missense_Mutation_p.D282N|WT1_ENST00000448076.3_Missense_Mutation_p.D494N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	429					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACTAATTCATCTGACCGGGCA	0.522000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				33	75					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453288	64453288	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:64453288G>A	ENST00000265459.6	-	6	1443	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	NRXN2_ENST00000377559.3_Silent_p.L304L|NRXN2_ENST00000409571.1_Silent_p.L328L|NRXN2_ENST00000377551.1_Silent_p.L328L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	328	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTGTATGCAGCATCAGGCCG	0.577000													16	147					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857436	9857436	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:9857436C>T	ENST00000396573.2	-	14	4274	c.3965G>A	c.(3964-3966)gGa>gAa	p.G1322E	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G1322E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G1322E|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1322					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAAAAATTTCCCTCCAGAAG	0.527000													22	109					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280150	66280150	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:66280150G>A	ENST00000273854.3	-	7	2139	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	EPHA5_ENST00000511294.1_Silent_p.T513T|EPHA5_ENST00000354839.4_Silent_p.T513T|EPHA5_ENST00000432638.2_Silent_p.T349T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	513	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCGTGTAGCTGGTCTCTTGGT	0.373000										TSP Lung(17;0.13)			23	79					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761257	74761257	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:74761257C>T	ENST00000264094.3	-	12	2117	c.2046G>A	c.(2044-2046)acG>acA	p.T682T	LOXL3_ENST00000409986.1_Silent_p.T537T|LOXL3_ENST00000409549.1_Silent_p.T626T|LOXL3_ENST00000409249.1_Silent_p.T400T|LOXL3_ENST00000393937.2_Silent_p.T537T	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	682	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GCTTCACATCCGTGATGTCAA	0.522000													21	67					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842094	5842094	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:5842094C>T	ENST00000317037.2	+	1	551	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACTTCATCCCCCACACCTA	0.517000													45	166					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47863861	47863861	+	Splice_Site	SNP	G	G	C	rs138787524		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:47863861G>C	ENST00000359568.5	+	45	9946	c.9839_splice	c.e45+1	p.R3280_splice	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3280					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTGGGGGAAGGTCAGTGTGA	0.627000													8	36					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135945896	135945896	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:135945896C>T	ENST00000372080.4	+	10	1360	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	445					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CTCGGATGCCCGTCTACCCCA	0.617000													43	94					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40568177	40568177	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:40568177C>T	ENST00000455577.2	+	10	2705	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.P643L|PAK6_ENST00000441369.1_Missense_Mutation_p.P643L|PAK6_ENST00000542403.2_Missense_Mutation_p.P643L|PAK6_ENST00000260404.4_Missense_Mutation_p.P643L|PAK6_ENST00000453867.1_Missense_Mutation_p.P643L	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	643	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTGCGGGACCCCCAAGAGAGA	0.612000													65	139					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011647	21011647	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:21011647G>A	ENST00000261383.3	-	43	6319	c.6320C>T	c.(6319-6321)aCc>aTc	p.T2107I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2107	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTGGCTGAGGTTCTGGCAGA	0.517000													17	71					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897034	36897034	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:36897034G>A	ENST00000429976.2	-	12	4294	c.4047C>T	c.(4045-4047)agC>agT	p.S1349S	TRANK1_ENST00000301807.6_Silent_p.S799S|TRANK1_ENST00000428977.2_Silent_p.S799S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1349					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTGAAGAGGCTGTAGATCT	0.483000													20	113					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400685	10400685	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:10400685C>T	ENST00000226207.5	-	32	4544	c.4450G>A	c.(4450-4452)Gaa>Aaa	p.E1484K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1484						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1484*(1)		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						TTAAATAGTTCTGTGCTGAGT	0.383000													13	31					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472367	23472367	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:23472367G>A	ENST00000246012.1	+	2	420	c.63G>A	c.(61-63)agG>agA	p.R21R		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	21						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGTGGCCAGGAAAGACCCAA	0.557000													27	134					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701677	103701677	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr13:103701677C>T	ENST00000245312.3	-	5	1477	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	294					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTGGAAAATGCTGTAGATGAG	0.458000													25	102					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806494	54806494	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:54806494G>A	ENST00000306858.7	+	5	2841	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	909										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTACCCCTGAAAGAAGACC	0.458000													23	100					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122333	12122333	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:12122333C>T	ENST00000379388.2	+	4	2637	c.2305C>T	c.(2305-2307)Ccg>Tcg	p.P769S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	769					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TAGTGTGAAGCCGCGGAGAAC	0.453000													19	46					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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				51	79					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864962	47864962	+	Silent	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:47864962T>G	ENST00000396105.1	-	14	4845	c.4599A>C	c.(4597-4599)cgA>cgC	p.R1533R	ZNFX1_ENST00000371752.1_Silent_p.R1533R|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1533							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCATGGGGGTCGGTTGCAGG	0.577000													41	229					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355245	42355245	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:42355245C>T	ENST00000373003.1	-	1	393	c.90G>A	c.(88-90)agG>agA	p.R30R	GTSF1L_ENST00000373005.2_Silent_p.R30R	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	30							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTTCTTTCTCCTGCACGATG	0.493000													31	186					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346355	29346355	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:29346355C>T	ENST00000558402.1	+	5	867	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	APBA2_ENST00000558259.1_Missense_Mutation_p.L90F|APBA2_ENST00000558330.1_Missense_Mutation_p.L90F|APBA2_ENST00000411764.1_Missense_Mutation_p.L90F|APBA2_ENST00000561069.1_Missense_Mutation_p.L90F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	90					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGACGAGGGCCTCCCTGAGGA	0.612000													96	167					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:21954063C>T	ENST00000261200.4	-	38	4564	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	ABC transporter 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	p.G1522E(1)		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)	TAAAATATTTCCTCGCTTCAT	0.408000													9	80					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261540	16261540	+	Silent	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:16261540G>T	ENST00000375759.3	+	11	9009	c.8805G>T	c.(8803-8805)ggG>ggT	p.G2935G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2935					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCACCCAGGGGATCAACACAC	0.577000													18	59					9.16793e-09	9.4146e-09	1	1	0
ITGA9	3680	broad.mit.edu	37	3	37778457	37778457	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:37778457C>T	ENST00000264741.5	+	20	2473	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	739					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTCTCAGCTTCATTGTTACTG	0.438000													6	32					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41983819	41983819	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:41983819G>A	ENST00000333141.5	+	1	107	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	4										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AATGGAGGCTGAAAGGCTGCG	0.498000													6	55					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202766	2202766	+	Silent	SNP	G	G	A	rs139116937	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:2202766G>A	ENST00000544865.1	-	2	1698	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SMG6_ENST00000263073.5_Silent_p.S427S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	427	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAAAGGCGCGGACTCTGGAG	0.547000													33	93					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918697	154918697	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:154918697G>A	ENST00000368463.3	-	10	1524	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	PBXIP1_ENST00000542459.1_Missense_Mutation_p.R330W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R312W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R456W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	485					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.R485W(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGCCTTCCGGTCTCTCTGC	0.552000													75	354					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006898	141006898	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:141006898C>T	ENST00000277549.5	+	40	5628	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	CACNA1B_ENST00000371372.1_Missense_Mutation_p.S1826F|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S1824F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S1827F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S1825F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S1826F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1826					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGGAGATTTCCGTTGTGTGG	0.547000													16	52					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650650	37650650	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:37650650T>C	ENST00000399151.3	+	30	6051	c.5966T>C	c.(5965-5967)gTt>gCt	p.V1989A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1989					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTCCTGTGTTCAGTAAGAT	0.473000													13	75					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968047	4968047	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:4968047G>A	ENST00000380373.2	-	1	309	c.284C>T	c.(283-285)tCa>tTa	p.S95L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95L(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCATTGGATGAAATTTCAGG	0.423000													31	265					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61815418	61815418	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:61815418T>C	ENST00000280772.1	-	42	13254	c.13063A>G	c.(13063-13065)Aag>Gag	p.K4355E	ANK3_ENST00000355288.2_Missense_Mutation_p.K979E|ANK3_ENST00000373827.2_Missense_Mutation_p.K1839E|ANK3_ENST00000503366.1_Missense_Mutation_p.K1846E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4355					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGACGTACCTTTTGCTCAGAC	0.488000													68	183					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258334	18258334	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:18258334C>T	ENST00000286479.3	+	2	928	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NAT2_ENST00000520116.1_Missense_Mutation_p.S144F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	274					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTTAAGATTTCCTTGGGGAGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				17	70					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31291010	31291010	+	RNA	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:31291010G>A	ENST00000554665.1	-	0	208																											GGTACAAGACGGGCAAGAACA	0.383000													9	21					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257781	158257781	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:158257781G>A	ENST00000296526.7	+	11	2051	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	GRIA2_ENST00000449365.1_Missense_Mutation_p.E529K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E529K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E529K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E576K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	576					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCACACTGAGGAGTTTGAAGA	0.423000													31	120					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287467	62287467	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:62287467C>T	ENST00000378024.4	-	5	14696	c.14422G>A	c.(14422-14424)Gac>Aac	p.D4808N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4808					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)				ACATCGATGTCGGCCTTGGGC	0.522000													72	247					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842134	5842134	+	Missense_Mutation	SNP	C	C	T	rs140734548	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:5842134C>T	ENST00000317037.2	+	1	591	c.569C>T	c.(568-570)tCc>tTc	p.S190F	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAAGGTATCCTGTGGCAAT	0.473000													36	227					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617424	41617424	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:41617424G>A	ENST00000373050.4	+	3	331	c.144G>A	c.(142-144)gaG>gaA	p.E48E				Q99750	MDFI_HUMAN	MyoD family inhibitor	109					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACCCCTCAGAGCTGGGCGGCA	0.637000													47	213					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613673	2613673	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:2613673C>T	ENST00000406454.3	+	8	1185	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399603.1_Silent_p.F395F|CACNA1C_ENST00000399617.1_Silent_p.F395F|CACNA1C_ENST00000399641.1_Silent_p.F395F|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399634.1_Silent_p.F395F|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399655.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	395					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)	GATCCTTTTTCGTTCTAAATC	0.488000													8	99					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202571164	202571164	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:202571164C>T	ENST00000367267.1	-	6	847	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	SYT2_ENST00000367268.4_Missense_Mutation_p.G219S	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	219	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AGAGTTTTGCCCCCAAGCTCC	0.567000													15	97					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54581585	54581585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:54581585G>A	ENST00000251636.5	-	9	1319	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	391							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTCTTGGGAAGATTCTTCCTG	0.348000													10	52					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16286042	16286042	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:16286042C>T	ENST00000259727.4	+	7	787	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	225					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CTGTACGTGTCCAGGGGATGT	0.602000											OREG0017214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643391	142643391	+	Missense_Mutation	SNP	C	C	T	rs61729041		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:142643391C>T	ENST00000355265.2	-	11	1691	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	406			R -> Q (in KEL26 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTTCATCCATCGTGGGCGGGC	0.562000													13	24					0	0	1	0	0
SRP14	6727	broad.mit.edu	37	15	40328689	40328689	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:40328689G>A	ENST00000267884.6	-	5	327	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	SRP14_ENST00000560773.1_Missense_Mutation_p.L6F|SRP14_ENST00000558720.1_Missense_Mutation_p.L6F|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	86					negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		GCTCTAAGGAGGTTTGAATAA	0.473000													36	167					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992576	176992576	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:176992576G>A	ENST00000367654.2	-	7	1415	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L468L|ASTN1_ENST00000361833.2_Silent_p.L468L|ASTN1_ENST00000424564.2_Silent_p.L468L			O14525	ASTN1_HUMAN	astrotactin 1	468	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGGGTCCAGGAGCCGCCGG	0.612000													10	23					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057492	57057492	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:57057492G>A	ENST00000308249.2	+	7	1497	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	465	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACCTGAAAGAGAATAATGGAG	0.498000													9	50					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032466	21032466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:21032466C>A	ENST00000381545.3	+	11	1451	c.1232C>A	c.(1231-1233)tCa>tAa	p.S411*	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Nonsense_Mutation_p.S411*|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S411*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S411*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	411					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCAAATTTTCATTTCTTACT	0.358000													4	43					0.150653	0.150983	1	1	0
ZBTB49	166793	broad.mit.edu	37	4	4322407	4322407	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:4322407C>T	ENST00000337872.4	+	8	1783	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	ZBTB49_ENST00000355834.3_Silent_p.V432V|ZBTB49_ENST00000538529.1_Silent_p.V37V	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GCAGGCATGTCCGCACTCACA	0.507000													10	45					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904563	73904563	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:73904563C>T	ENST00000342056.2	+	15	2680	c.2282C>T	c.(2281-2283)cCa>cTa	p.P761L	KCNQ5_ENST00000414165.2_Missense_Mutation_p.P632L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.P733L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P752L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P742L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P743L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P742L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	742					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCACCCAAGCCAGCAGCCCCA	0.532000													7	79					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293649	89293649	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:89293649C>T	ENST00000433976.2	+	6	1201	c.869C>T	c.(868-870)tCc>tTc	p.S290F	ZNF778_ENST00000306502.6_Missense_Mutation_p.S248F|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGAAAAGCCTCCCCTGTTTCT	0.488000													12	45					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650303	70650303	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:70650303G>A	ENST00000260126.3	-	5	2101	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	SLCO5A1_ENST00000530307.1_Intron|SLCO5A1_ENST00000524945.1_Silent_p.I465I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	465						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGAGGCTGGGATACCAAACT	0.438000													22	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583502	179583502	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179583502G>A	ENST00000589042.1	-	84	24649	c.24425C>T	c.(24424-24426)cCa>cTa	p.P8142L	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7825L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P6898L|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7825	Ig-like 64.						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)			ACTTTCTAATGGCTGCACCTC	0.463000													28	48					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284542	284542	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:284542C>T	ENST00000534750.1	+	7	2642	c.2437C>T	c.(2437-2439)Ctg>Ttg	p.L813L	NLRP6_ENST00000312165.5_Silent_p.L814L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	814						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCCCTGCCCTGACCACCCT	0.677000													5	31					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25636062	25636062	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:25636062T>A	ENST00000330688.4	+	7	1464	c.1043T>A	c.(1042-1044)tTg>tAg	p.L348*	RARB_ENST00000404969.1_Nonsense_Mutation_p.L355*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.L236*|RARB_ENST00000437042.2_Nonsense_Mutation_p.L236*	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	355	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P347fs*26(1)|p.P354fs*26(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAAGAACCATTGCTGGAAGCA	0.393000													12	63					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950066	7950066	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:7950066G>A	ENST00000309838.2	-	1	143	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTAGGGAGACGATGACTATAA	0.468000													31	143					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926570	130926570	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:130926570C>T	ENST00000261655.4	-	8	1439	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E334K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E334K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	426	Fibronectin type-III 2.					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)		AACTCCTCCTCGTTGAGGAAG	0.577000													11	75					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107698335	107698335	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:107698335C>T	ENST00000388781.3	-	24	3404	c.3321G>A	c.(3319-3321)ggG>ggA	p.G1107G	LAMB4_ENST00000388780.3_Silent_p.G1107G|LAMB4_ENST00000205386.4_Silent_p.G1107G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1107	Laminin EGF-like 12.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCAACGTTTCCCGCCGTAAC	0.428000													9	20					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114354871	114354871	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:114354871G>A	ENST00000261441.5	-	1	227	c.164C>T	c.(163-165)gCg>gTg	p.A55V		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	55						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)		TACGCGCACCGCTCCGACCTG	0.682000													20	146					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615210	615210	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:615210T>C	ENST00000409413.3	+	3	1898	c.1619T>C	c.(1618-1620)aTt>aCt	p.I540T		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	540										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GACCCTGTCATTCCTGGCAGT	0.682000													9	18					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135945895	135945895	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:135945895C>T	ENST00000372080.4	+	10	1359	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	445					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCTCGGATGCCCGTCTACCCC	0.622000													43	93					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602170	58602170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:58602170C>T	ENST00000287275.1	-	6	1007	c.617G>A	c.(616-618)gGt>gAt	p.G206D	GLYATL2_ENST00000532258.1_Missense_Mutation_p.G206D	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	206						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCCCTCTGGACCCAGCACACC	0.473000													12	67					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853396	29853396	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:29853396G>A	ENST00000357402.5	+	10	1735	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	MVP_ENST00000395353.1_Missense_Mutation_p.D533N	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	533					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGAAACGGCGGATCATGCCAG	0.622000													3	16					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65124532	65124532	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:65124532C>T	ENST00000371073.2	+	13	1927	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.H592Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	643					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCTTGCCTCCACTTCAAACA	0.488000													4	8					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538475	1538475	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:1538475C>T	ENST00000263071.4	-	11	2119	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.T604T	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	690	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCATGTAGATCGTGGTCACAG	0.657000													22	43					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704744	41704744	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:41704744C>T	ENST00000310054.4	+	5	1001	c.785C>T	c.(784-786)tCg>tTg	p.S262L	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	262					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGATGCTTCGGGCCCCGCA	0.652000													21	57					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927275	53927275	+	Missense_Mutation	SNP	G	G	A	rs150761078		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:53927275G>A	ENST00000371445.3	+	2	762	c.707G>A	c.(706-708)gGc>gAc	p.G236D	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	236	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CTGCAGCAGGGCTTCCGGCAT	0.682000													29	77					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123597629	123597629	+	Silent	SNP	A	A	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:123597629A>C	ENST00000336139.4	-	8	1385	c.1023T>G	c.(1021-1023)ccT>ccG	p.P341P	ZNF202_ENST00000530393.1_Silent_p.P341P|ZNF202_ENST00000529691.1_Silent_p.P341P			O95125	ZN202_HUMAN	zinc finger protein 202	341					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTCCCAAAACAGGCCTGTGTA	0.423000													48	209					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486444	45486444	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:45486444G>A	ENST00000359600.5	-	12	2671	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	822							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAATTGTTCGGAGTCTCAAAG	0.423000													47	208					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760550	120760550	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:120760550C>T	ENST00000273666.6	+	4	562	c.291C>T	c.(289-291)ctC>ctT	p.L97L	STXBP5L_ENST00000471454.1_Silent_p.L97L|STXBP5L_ENST00000497029.1_Silent_p.L97L|STXBP5L_ENST00000492541.1_Silent_p.L97L|STXBP5L_ENST00000472879.1_Silent_p.L97L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	97					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)		ATATTAGACTCGGGAGACCTG	0.338000													7	44					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263189	144263189	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:144263189C>T	ENST00000360537.2	-	5	2677	c.764G>A	c.(763-765)aGc>aAc	p.S255N	PLAGL1_ENST00000444202.1_Missense_Mutation_p.S255N|PLAGL1_ENST00000416623.1_Missense_Mutation_p.S255N|PLAGL1_ENST00000437412.1_Missense_Mutation_p.S203N|PLAGL1_ENST00000367572.1_Missense_Mutation_p.S203N|PLAGL1_ENST00000392307.1_Missense_Mutation_p.S203N|PLAGL1_ENST00000392309.1_Missense_Mutation_p.S255N|PLAGL1_ENST00000429150.1_Missense_Mutation_p.S255N|PLAGL1_ENST00000354765.2_Missense_Mutation_p.S255N|PLAGL1_ENST00000367571.1_Missense_Mutation_p.S255N			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	255					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		AGCTGGCAAGCTACTTGCAAG	0.612000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	135					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446519	92446519	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:92446519T>C	ENST00000370389.2	+	10	2239	c.1315T>C	c.(1315-1317)Tat>Cat	p.Y439H	BRDT_ENST00000394530.3_Missense_Mutation_p.Y466H|BRDT_ENST00000402388.1_Missense_Mutation_p.Y512H|BRDT_ENST00000362005.3_Missense_Mutation_p.Y512H|BRDT_ENST00000399546.2_Missense_Mutation_p.Y512H	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACCTATGAACTATGATGAGAA	0.353000													16	67					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079486	38079486	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:38079486G>A	ENST00000356545.2	-	7	1302	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RSPO1_ENST00000373059.1_Missense_Mutation_p.S145F|RSPO1_ENST00000401068.1_Missense_Mutation_p.S172F|RSPO1_ENST00000401069.1_Missense_Mutation_p.S172F|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	172	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCTCCTCGGAGCCCCTCCG	0.637000													14	67					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718411	142718411	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:142718411C>T	ENST00000381779.4	-	2	739	c.514G>A	c.(514-516)Gat>Aat	p.D172N	SLITRK4_ENST00000356928.1_Missense_Mutation_p.D172N|SLITRK4_ENST00000338017.4_Missense_Mutation_p.D172N	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	172						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAAATATTATCAGGAAGGAAT	0.398000													40	86					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552663	18552663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:18552663C>T	ENST00000433979.1	+	15	2190	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P692S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P733S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	692					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCTCCCTTCCTTTAGTCCT	0.383000													17	54					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467347	133467347	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:133467347G>A	ENST00000402696.3	+	2	620	c.135G>A	c.(133-135)atG>atA	p.M45I	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Intron|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	45	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GCGACCATATGAAAAGCGTCA	0.537000													10	45					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62631468	62631468	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:62631468G>A	ENST00000383710.4	-	6	1603	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	CADPS_ENST00000283269.9_Silent_p.I418I|CADPS_ENST00000490353.2_Silent_p.I418I|CADPS_ENST00000357948.3_Silent_p.I418I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	418	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATATACGATGCGATTTG	0.463000													80	108					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043420	35043420	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:35043420G>A	ENST00000312292.5	+	2	841	c.794G>A	c.(793-795)gGg>gAg	p.G265E	C9orf131_ENST00000421362.2_Missense_Mutation_p.G217E|C9orf131_ENST00000354479.5_Missense_Mutation_p.G192E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	265										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATCTAGAAGGGATGGCCCCC	0.542000													32	86					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779933	18779933	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:18779933G>A	ENST00000300976.4	+	3	1816	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	576										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAACGTCACGGGCATCGTACA	0.657000													12	39					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72383425	72383425	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:72383425C>T	ENST00000430046.2	+	25	2371	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	FCHO2_ENST00000512348.1_Missense_Mutation_p.S719F|FCHO2_ENST00000341845.6_Missense_Mutation_p.S752F	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	752										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GGTTCTGGGTCCCTCCGAGCA	0.393000													21	36					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116931559	116931559	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:116931559C>T	ENST00000537345.1	+	7	1035	c.672C>T	c.(670-672)ccC>ccT	p.P224P	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Silent_p.P224P|ATP1A1_ENST00000369496.4_Silent_p.P193P	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	224					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AATCAGAACCCCAGACTAGGT	0.443000													34	95					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52239922	52239922	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:52239922C>T	ENST00000394965.2	+	7	1228	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	ALAS1_ENST00000484952.1_Missense_Mutation_p.H290Y|ALAS1_ENST00000469224.1_Missense_Mutation_p.H290Y|ALAS1_ENST00000310271.2_Missense_Mutation_p.H290Y	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	290					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TAGTAAATTCCATGTGGACTT	0.448000													13	55					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886971	6886971	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:6886971G>A	ENST00000203629.2	+	7	1648	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	439						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCAACGCTCTGGGAGAGCCCC	0.522000													17	54					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605572	171605572	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:171605572G>A	ENST00000037502.5	-	3	1067	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	336	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGCGCCCTGGAAATAGAGGC	0.532000													15	101					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92058241	92058241	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:92058241C>T	ENST00000256343.3	-	23	2971	c.2815G>A	c.(2815-2817)Gaa>Aaa	p.E939K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	939					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.E939K(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTACTTTTTCCCTGCAATCC	0.363000													31	68					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2774072	2774072	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:2774072C>A	ENST00000399655.1	+	35	4579	c.4314C>A	c.(4312-4314)agC>agA	p.S1438R	CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1455R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S1438R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1460R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1458R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1425R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1427R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1427R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1486R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S1438R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1463R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1466R	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	1486					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)	CCGAGCCCAGCAACAGCACGG	0.602000													5	30					0.014758	0.0148553	1	1	0
KNG1	3827	broad.mit.edu	37	3	186459946	186459946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:186459946G>A	ENST00000265023.4	+	10	1973	c.1761G>A	c.(1759-1761)tgG>tgA	p.W587*	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	587					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)	ATGACGATTGGATCCCTGATA	0.458000													17	155					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6253066	6253066	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:6253066G>A	ENST00000234875.4	-	3	204	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	RPL22_ENST00000497965.1_Missense_Mutation_p.L23F|RPL22_ENST00000484532.1_Missense_Mutation_p.L23F	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|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;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCACCAAGGTTCCCAGCT	0.468000			T	RUNX1	"""AML, CML"""								37	135					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113698247	113698247	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:113698247C>T	ENST00000550785.1	+	4	572	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TPCN1_ENST00000541517.1_Missense_Mutation_p.P135S|TPCN1_ENST00000335509.6_Missense_Mutation_p.P63S|TPCN1_ENST00000392569.4_5'UTR	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	63						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCCTCCAGCCCCGCACACAA	0.587000													4	45					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112024123	112024123	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:112024123C>A	ENST00000371959.3	-	9	2463	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	AMOT_ENST00000371958.1_Missense_Mutation_p.G590W|AMOT_ENST00000371962.1_Missense_Mutation_p.G590W|AMOT_ENST00000304758.1_Missense_Mutation_p.G413W|AMOT_ENST00000524145.1_Missense_Mutation_p.G822W	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	822					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						CCTAGGCTCCCCTTCCAGCTC	0.493000													34	90					8.16721e-17	8.46285e-17	1	1	0
CORIN	10699	broad.mit.edu	37	4	47746513	47746513	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:47746513C>T	ENST00000273857.4	-	5	704	c.705G>A	c.(703-705)ccG>ccA	p.P235P	CORIN_ENST00000502252.1_Silent_p.P168P|CORIN_ENST00000508498.1_Silent_p.P96P|CORIN_ENST00000504584.1_Silent_p.P235P|CORIN_ENST00000505909.1_Silent_p.P235P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	235	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGAGGAAATCCGGCCAGGAGT	0.463000													26	184					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85411561	85411561	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:85411561G>A	ENST00000359152.5	-	9	4887	c.4888C>T	c.(4888-4890)Cct>Tct	p.P1630S	SYTL2_ENST00000527523.1_Missense_Mutation_p.P752S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P760S|SYTL2_ENST00000389958.3_Missense_Mutation_p.P215S|SYTL2_ENST00000529581.1_Missense_Mutation_p.P226S|SYTL2_ENST00000525423.1_Missense_Mutation_p.P1106S|SYTL2_ENST00000525702.1_Missense_Mutation_p.P226S|SYTL2_ENST00000528231.1_Missense_Mutation_p.P784S|SYTL2_ENST00000316356.4_Missense_Mutation_p.P785S|SYTL2_ENST00000389960.4_Missense_Mutation_p.P760S|SYTL2_ENST00000354566.3_Missense_Mutation_p.P1122S|SYTL2_ENST00000533892.1_Missense_Mutation_p.P186S	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	784					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TACATACCAGGGACTGGCTCT	0.428000													8	81					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883656	152883656	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:152883656G>A	ENST00000368764.3	+	2	1447	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	IVL_ENST00000392667.2_Silent_p.K315K			P07476	INVO_HUMAN	involucrin	461	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGCCAAAGAACCTGGAGC	0.622000													2	2					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41926210	41926210	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:41926210G>A	ENST00000317310.4	+	2	369	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CD300LG_ENST00000293396.8_Missense_Mutation_p.E110K|CD300LG_ENST00000588884.1_Missense_Mutation_p.E110K|CD300LG_ENST00000539718.1_Missense_Mutation_p.E110K|CD300LG_ENST00000586233.1_Missense_Mutation_p.E110K|CD300LG_ENST00000377203.4_Missense_Mutation_p.E110K	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	110	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	p.E110K(3)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTGTGGGGTCGAAAAACGGGG	0.592000													13	86					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703609	55703609	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:55703609C>T	ENST00000301532.3	-	1	267	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTTGTTCTCCGAGAGGAAA	0.408000													13	62					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55844364	55844364	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:55844364C>G	ENST00000272313.5	-	1	385	c.58G>C	c.(58-60)Gac>Cac	p.D20H	SMEK2_ENST00000345102.5_Missense_Mutation_p.D20H|SMEK2_ENST00000407823.3_Missense_Mutation_p.D20H|SMEK2_ENST00000477749.1_5'UTR	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	20	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTCGGTCGTCCCATTGCCGG	0.627000													13	55					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640188	94640188	+	Missense_Mutation	SNP	C	C	T	rs140638899	byFrequency	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:94640188C>T	ENST00000260526.6	-	23	3205	c.3023G>A	c.(3022-3024)aGg>aAg	p.R1008K		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1008					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)		TGGAGTATGCCTCTCCACATT	0.418000													36	123					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26925891	26925891	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:26925891G>A	ENST00000397292.3	-	6	1218	c.801C>T	c.(799-801)atC>atT	p.I267I	PLAA_ENST00000520884.1_Silent_p.I267I	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	267					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTGGAAGTCGGATAGTTTGAG	0.393000													28	68					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99454592	99454592	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:99454592C>T	ENST00000397899.2	-	3	560	c.229G>A	c.(229-231)Gat>Aat	p.D77N	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		TCCAGCTCATCCTCGGAGTCG	0.507000													15	51					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120012323	120012323	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:120012323T>G	ENST00000354888.5	+	5	1588	c.1084T>G	c.(1084-1086)Tcc>Gcc	p.S362A	STEAP3_ENST00000393106.2_Missense_Mutation_p.S362A|STEAP3_ENST00000393107.2_Missense_Mutation_p.S362A|STEAP3_ENST00000393108.2_Missense_Mutation_p.S362A|STEAP3_ENST00000450943.2_Missense_Mutation_p.S362A|STEAP3_ENST00000409811.1_Missense_Mutation_p.S362A|STEAP3_ENST00000393110.2_Missense_Mutation_p.S372A|STEAP3_ENST00000425223.2_Missense_Mutation_p.S362A	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	362	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GATCTACCTCTCCCTGGGAGT	0.587000													30	57					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779932	18779932	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:18779932G>A	ENST00000300976.4	+	3	1815	c.1725G>A	c.(1723-1725)acG>acA	p.T575T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	575										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACAACGTCACGGGCATCGTAC	0.652000													12	39					0	0	1	0	0
PTAR1	375743	broad.mit.edu	37	9	72333557	72333557	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:72333557G>A	ENST00000377200.5	-	5	756	c.754C>T	c.(754-756)Cct>Tct	p.P252S	PTAR1_ENST00000340434.4_Intron			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	327					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATGCTGTGAGGAAACCTACCA	0.483000													13	41					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449275	9449275	+	Silent	SNP	C	C	T	rs144121082		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:9449275C>T	ENST00000378501.2	+	32	3285	c.3270C>T	c.(3268-3270)gcC>gcT	p.A1090A	PLCB4_ENST00000334005.3_Silent_p.A1090A|PLCB4_ENST00000278655.4_Silent_p.A1090A|PLCB4_ENST00000414679.2_Silent_p.A1102A|PLCB4_ENST00000378493.1_Silent_p.A1090A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.A1102A	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1090					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						ATAGCAAAGCCATCAGCCAAG	0.423000													24	142					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61819472	61819472	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:61819472C>A	ENST00000373827.2	-	40	5201	c.5031G>T	c.(5029-5031)ttG>ttT	p.L1677F	ANK3_ENST00000355288.2_Missense_Mutation_p.L817F|ANK3_ENST00000503366.1_Missense_Mutation_p.L1684F|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000280772.1_Intron	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3755	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.L817F(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATACATTCTCCAACTGGCTCT	0.448000													28	133					2.08973e-25	2.17029e-25	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247655240	247655240	+	RNA	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:247655240G>A	ENST00000522351.1	+	0	871							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCCAAGATCAGGGGAAGTTCC	0.512000													48	138					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61819473	61819473	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:61819473A>C	ENST00000373827.2	-	40	5200	c.5030T>G	c.(5029-5031)tTg>tGg	p.L1677W	ANK3_ENST00000355288.2_Missense_Mutation_p.L817W|ANK3_ENST00000503366.1_Missense_Mutation_p.L1684W|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000280772.1_Intron	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3755	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACATTCTCCAACTGGCTCTC	0.453000													28	133					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061516	12061516	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr16:12061516G>A	ENST00000053243.1	+	3	585	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.V74M	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	123					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CGAGTACACGGTGGAAGAATG	0.493000			T	IL2	intestinal T-cell lymphoma								10	84					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188217	7188217	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:7188217C>T	ENST00000486284.1	+	2	872	c.598C>T	c.(598-600)Cca>Tca	p.P200S	GRM7_ENST00000389336.4_Missense_Mutation_p.P200S|GRM7_ENST00000402647.2_Missense_Mutation_p.P200S|GRM7_ENST00000357716.4_Missense_Mutation_p.P200S|GRM7_ENST00000403881.1_Missense_Mutation_p.P200S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	200					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCGCGTGGTGCCACCCGATTC	0.517000													17	85					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99921877	99921877	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:99921877C>T	ENST00000373004.3	+	8	1336	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	303	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGACACCCTCCCGGGTCTGT	0.607000													12	24					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128356881	128356881	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:128356881G>A	ENST00000485070.1	+	3	372	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	FAM71F1_ENST00000315184.5_Silent_p.R88R|FAM71F1_ENST00000469348.1_3'UTR			Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	0										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAAGGGGCAGGAATTGGAGAG	0.567000													17	30					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807255	233807255	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:233807255G>A	ENST00000366621.3	+	3	1158	c.990G>A	c.(988-990)gtG>gtA	p.V330V	KCNK1_ENST00000366620.1_Silent_p.V214V|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	330						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTGCCTGCGTGGATGGCCCTG	0.502000													13	69					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5565995	5565995	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:5565995G>A	ENST00000322653.4	-	1	784	c.759C>T	c.(757-759)gtC>gtT	p.V253V	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACACAGACATGAGAAC	0.502000													18	64					0	0	1	0	0
CISH	1154	broad.mit.edu	37	3	50646016	50646016	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:50646016G>A	ENST00000443053.2	-	3	307	c.80C>T	c.(79-81)cCt>cTt	p.P27L	CISH_ENST00000348721.3_Missense_Mutation_p.P10L	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	10					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCCAGCAAAGGACGAGGTCT	0.632000													3	15					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126314917	126314917	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:126314917G>A	ENST00000525144.2	-	10	1458	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	KIRREL3_ENST00000529097.2_Silent_p.P403P|KIRREL3_ENST00000525704.2_Silent_p.P403P	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	403	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCCCACACGGGGCACCACAG	0.632000													12	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463252	179463252	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179463252C>T	ENST00000589042.1	-	292	57316	c.57092G>A	c.(57091-57093)gGa>gAa	p.G19031E	TTN_ENST00000342175.6_Missense_Mutation_p.G10158E|TTN_ENST00000359218.5_Missense_Mutation_p.G10091E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17390E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16463E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9966E|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17390	Fibronectin type-III 38.						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)			TTCTTCTTTTCCTTCTTCTTT	0.368000													7	48					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125140277	125140277	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:125140277G>A	ENST00000362012.2	+	3	199	c.194G>A	c.(193-195)gGc>gAc	p.G65D	PTGS1_ENST00000223423.4_Missense_Mutation_p.G65D|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Missense_Mutation_p.G40D	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	65	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GGCTATTCCGGCCCCAACTGC	0.602000													23	93					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445529	144445529	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:144445529C>T	ENST00000283131.3	+	4	891	c.429C>T	c.(427-429)caC>caT	p.H143H		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	143					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTTACCGACACCGTAGAACAG	0.378000													13	60					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74143888	74143888	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:74143888T>G	ENST00000409624.1	+	9	1626	c.983T>G	c.(982-984)aTc>aGc	p.I328S	ACTG2_ENST00000409731.3_Missense_Mutation_p.I285S|ACTG2_ENST00000345517.3_Missense_Mutation_p.I328S			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	328					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						ACCATGAAGATCAAGGTGGGT	0.537000													13	57					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421735	82421735	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:82421735G>A	ENST00000370728.1	+	13	2641	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	LPHN2_ENST00000370717.2_Missense_Mutation_p.E666K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.E653K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E666K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E653K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E591K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E666K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E666K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E653K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E653K			O95490	LPHN2_HUMAN	latrophilin 2	666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358000													15	57					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99699547	99699547	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:99699547C>T	ENST00000429084.1	+	2	261	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	MCM7_ENST00000343023.6_5'UTR|MCM7_ENST00000303887.5_5'UTR|AP4M1_ENST00000421755.1_Missense_Mutation_p.R35W|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Missense_Mutation_p.R35W			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	35					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTTCTACCGGAAGCTGAC	0.706000													7	46					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332666	22332666	+	RNA	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:22332666C>T	ENST00000558896.1	+	0	473																											TAGGGGATTTCCTACAGCAGG	0.443000													20	208					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111693340	111693340	+	Silent	SNP	T	T	C			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:111693340T>C	ENST00000374647.5	-	2	394	c.87A>G	c.(85-87)gaA>gaG	p.E29E	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	29					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCGTCCCCTGTTCAGTTCGGA	0.468000													34	87					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11645520	11645520	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:11645520G>A	ENST00000262442.3	+	30	6069	c.6001G>A	c.(6001-6003)Gaa>Aaa	p.E2001K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2001K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2001	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGACTTTGAATTGATCTG	0.438000													24	70					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634538	156634538	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:156634538C>T	ENST00000296518.7	+	7	1584	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P459S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P459S|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P201S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P459S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P459S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P459S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	459					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTCCATATTTCCCTGTGAGGT	0.522000													20	61					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55529118	55529118	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:55529118C>T	ENST00000302118.5	+	12	2230	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	647					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTCCTGGGGGCCTACGCCGTA	0.662000													6	31					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156946	119156946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:119156946C>T	ENST00000319172.5	-	6	1000	c.580G>A	c.(580-582)Ggt>Agt	p.G194S	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	194						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)		ACATAAACACCAAACCTGTAA	0.363000													6	35					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676681	44676681	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:44676681C>T	ENST00000454036.1	+	16	2114	c.2038C>T	c.(2038-2040)Ctc>Ttc	p.L680F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L657F|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	680					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCGCTATGCCCTCTTACGCCT	0.592000													3	24					0	0	1	0	0
PAIP2B	400961	broad.mit.edu	37	2	71429639	71429639	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:71429639C>T	ENST00000244221.8	-	2	247	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	27					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						ATGGGTTTTCCTTTTCATCGT	0.398000													14	104					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072332	34072332	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:34072332C>T	ENST00000254466.6	-	6	2211	c.2184G>A	c.(2182-2184)tcG>tcA	p.S728S	GAS2L2_ENST00000587565.1_Silent_p.S712S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	728					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGTAGAAGCCGAGCAGTCCT	0.622000													20	170					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	939188	939188	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:939188C>T	ENST00000537687.1	+	4	1816	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Silent_p.A391A|WNK1_ENST00000530271.2_Silent_p.A391A|WNK1_ENST00000535572.1_Silent_p.A391A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	391	Protein kinase.				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)			AGTTCATGGCCCCTGAGATGT	0.458000													31	117					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813514	101813514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:101813514G>A	ENST00000506729.1	-	3	839	c.668C>T	c.(667-669)tCa>tTa	p.S223L	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S223L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	223						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGATTGGAATGATATACCACT	0.348000													39	116					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38777207	38777207	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:38777207C>G	ENST00000308973.4	-	4	610	c.5G>C	c.(4-6)aGa>aCa	p.R2T	TLR10_ENST00000506111.1_Missense_Mutation_p.R2T|TLR10_ENST00000361424.2_Missense_Mutation_p.R2T|TLR10_ENST00000508334.1_Missense_Mutation_p.R2T	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	2					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCTGATGAGTCTCATTGTATT	0.343000													18	58					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	199					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						TCATTGTGTACCGAGCCTCTT	0.358000													8	131					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48547507	48547507	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:48547507C>T	ENST00000435803.1	+	50	13410	c.13386C>T	c.(13384-13386)atC>atT	p.I4462I	ABCA13_ENST00000544596.1_Silent_p.I192I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4462					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTCTGCATCGTGCTGGGAT	0.567000													5	27					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121322263	121322263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:121322263C>T	ENST00000297848.3	+	37	4687	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R1473*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R1378*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1473	Triple-helical region 1 (COL2).				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)			TCCAGGACTCCGAGGACCAAA	0.423000													16	74					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115394998	115394998	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:115394998G>A	ENST00000393780.3	+	3	745	c.277G>A	c.(277-279)Gat>Aat	p.D93N	GAP43_ENST00000305124.6_Missense_Mutation_p.D57N	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	57					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.D57H(1)|p.D93H(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGAGAAGAAGGATGATGTCCA	0.488000													23	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434605	179434605	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:179434605G>A	ENST00000589042.1	-	326	76478	c.76254C>T	c.(76252-76254)acC>acT	p.T25418T	TTN_ENST00000342175.6_Silent_p.T16545T|TTN_ENST00000359218.5_Silent_p.T16478T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.T23777T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.T22850T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T16353T|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23777	Fibronectin type-III 84.						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)			CTGAAGATCTGGTTATGTCTA	0.408000													9	80					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160103	132160103	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:132160103G>A	ENST00000511190.1	-	6	2615	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	USP26_ENST00000406273.1_Missense_Mutation_p.P716S|USP26_ENST00000370832.1_Missense_Mutation_p.P716S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	716					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)					TCTTTAGTAGGATTGATAATC	0.348000													26	70					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736427	158736427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:158736427C>T	ENST00000335094.2	-	1	65	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGGAAGCCCAAGATGATG	0.473000													19	54					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431769	140431769	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:140431769C>T	ENST00000306549.3	+	1	791	c.714C>T	c.(712-714)caC>caT	p.H238H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		238	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAACGACCACGTGCCCCAGT	0.597000													9	33					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711318	140711318	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:140711318T>A	ENST00000517417.1	+	1	1067	c.1067T>A	c.(1066-1068)gTt>gAt	p.V356D	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V356D	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACTGCAGTTCCAGAAAAC	0.458000													32	45					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207613772	207613772	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:207613772C>T	ENST00000374412.3	-	7	1463	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	MDH1B_ENST00000454776.2_Silent_p.E396E|MDH1B_ENST00000449792.1_Silent_p.E298E|MDH1B_ENST00000392214.2_Silent_p.E183E	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	396					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAGATACAATCTCCCCAGGTG	0.398000													26	51					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979242	230979242	+	Missense_Mutation	SNP	C	C	T	rs150753725		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:230979242C>T	ENST00000366663.5	-	3	925	c.785G>A	c.(784-786)cGt>cAt	p.R262H	C1orf198_ENST00000523410.1_Missense_Mutation_p.R132H|C1orf198_ENST00000427697.2_Missense_Mutation_p.R45H|C1orf198_ENST00000470540.1_Missense_Mutation_p.R224H	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	262										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGTCTCTCACGTTCGGTGCT	0.652000													13	33					0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122217526	122217526	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr12:122217526C>T	ENST00000267205.2	-	5	1142	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	172					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GCGGAACATTCCAGGTAGAGA	0.632000													10	94					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175676283	175676283	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:175676283C>T	ENST00000409900.3	-	10	1233	c.920G>A	c.(919-921)gGa>gAa	p.G307E	CHN1_ENST00000409597.1_Missense_Mutation_p.G123E|CHN1_ENST00000409156.3_Missense_Mutation_p.G281E|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.G182E	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	307	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GTCACTAAATCCTGATACTCG	0.328000			T	TAF15	extraskeletal myxoid chondrosarcoma								3	20					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884838	228884838	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:228884838C>T	ENST00000392056.3	-	7	778	c.732G>A	c.(730-732)ttG>ttA	p.L244L	SPHKAP_ENST00000344657.5_Silent_p.L244L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	244						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTACTTTCCAAAACATTGG	0.373000													62	125					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26661294	26661294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr4:26661294C>T	ENST00000264866.4	+	8	834	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q121*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	186						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGGTTTAATTCAAGTTCCACT	0.279000													6	56					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666412	117666412	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:117666412G>A	ENST00000223795.2	-	4	617	c.504C>T	c.(502-504)atC>atT	p.I168I	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	168					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CCTGTTTTTTGATATGCTTGT	0.428000													34	172					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26925890	26925890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr9:26925890G>A	ENST00000397292.3	-	6	1219	c.802C>T	c.(802-804)Cga>Tga	p.R268*	PLAA_ENST00000520884.1_Nonsense_Mutation_p.R268*	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	268					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCTGGAAGTCGGATAGTTTGA	0.388000													29	70					0	0	1	0	0
TRAV38-1	28644	broad.mit.edu	37	14	22740184	22740184	+	RNA	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr14:22740184G>A	ENST00000390464.2	+	0	91																											GTCTCAACCAGAGATGTCTGT	0.483000													21	10					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062109	216062109	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:216062109G>A	ENST00000366943.2	-	41	8268	c.7882C>T	c.(7882-7884)Cca>Tca	p.P2628S	USH2A_ENST00000307340.3_Missense_Mutation_p.P2628S|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2628	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGGACTTGGGATCCCTTCC	0.498000										HNSCC(13;0.011)			26	74					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703151	4703151	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:4703151C>T	ENST00000396950.3	-	2	1030	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGCTGTTTCCAAAGCGGTG	0.517000													17	76					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483187	17483187	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:17483187G>A	ENST00000302539.4	-	5	890	c.765C>T	c.(763-765)atC>atT	p.I255I	ABCC8_ENST00000389817.3_Silent_p.I255I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	255					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTCATGGCGATGGGCAGCT	0.587000													17	138					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109415048	109415048	+	Missense_Mutation	SNP	G	G	A	rs143075960		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:109415048G>A	ENST00000436639.2	-	1	974	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	SESN1_ENST00000517548.1_5'UTR	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	175					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		p.P77>?(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TCTTTGAAGGGACACCTCTTA	0.398000													23	74					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769958	37769958	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:37769958C>T	ENST00000402918.1	-	3	2402	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	ELFN2_ENST00000349653.3_Silent_p.K539K|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	539						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGTCCACCTCCTTGGCAATGG	0.642000													14	117					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467743	50467743	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr7:50467743C>T	ENST00000331340.3	+	8	1133	c.978C>T	c.(976-978)tcC>tcT	p.S326S	IKZF1_ENST00000349824.4_Silent_p.S183S|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.S96S|IKZF1_ENST00000439701.1_Silent_p.S284S|IKZF1_ENST00000359197.5_Silent_p.S284S|IKZF1_ENST00000357364.4_Silent_p.S239S|IKZF1_ENST00000438033.1_Silent_p.S239S|IKZF1_ENST00000343574.5_Silent_p.S239S	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	326					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGCCGAGTCCCTGCGCCCGC	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""								5	11					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846673	7846673	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:7846673G>A	ENST00000328375.1	-	1	846	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAACATGGGAATCACCACG	0.438000													14	72					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148632325	148632325	+	Silent	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr5:148632325C>T	ENST00000506113.1	+	22	2345	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.Y510Y|ABLIM3_ENST00000356541.3_Silent_p.Y510Y|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.Y526Y|ABLIM3_ENST00000309868.7_Silent_p.Y621Y|ABLIM3_ENST00000508983.1_Silent_p.Y588Y|ABLIM3_ENST00000517451.1_Silent_p.Y107Y			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	621	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTAGATCTACCCTTATGAAC	0.502000													33	79					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306899	54306899	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr15:54306899G>A	ENST00000545554.1	+	1	1799	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	UNC13C_ENST00000260323.11_Missense_Mutation_p.S600N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S600N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	600					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGTATGACAGTCCCAAGGAC	0.473000													20	116					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10443871	10443871	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:10443871C>T	ENST00000397077.1	-	6	1134	c.559G>A	c.(559-561)Gag>Aag	p.E187K	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E187K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E187K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E187K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E187K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	187					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTTCCTGCTCGATGCGGCTC	0.572000													35	233					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133427	89133427	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:89133427C>T	ENST00000535633.1	-	10	1205	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	NOX4_ENST00000263317.4_Missense_Mutation_p.E323K|NOX4_ENST00000528341.1_Missense_Mutation_p.E298K|NOX4_ENST00000527956.1_Missense_Mutation_p.E299K|NOX4_ENST00000424319.1_Missense_Mutation_p.E299K|NOX4_ENST00000343727.5_Missense_Mutation_p.E299K|NOX4_ENST00000532825.1_Missense_Mutation_p.E299K|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.E299K|NOX4_ENST00000534731.1_Missense_Mutation_p.E323K|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.E344K|NOX4_ENST00000527626.1_Missense_Mutation_p.E157K|NOX4_ENST00000531342.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	323	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATTCGGATTTCCATGACATCT	0.413000													17	114					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360648	40360648	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr6:40360648C>T	ENST00000338305.6	-	3	1946	c.1404G>A	c.(1402-1404)atG>atA	p.M468I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	468	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGCTGGGATCATCCTGGGGA	0.577000													5	38					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567295	5567295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr10:5567295G>T	ENST00000315238.1	+	1	372	c.247G>T	c.(247-249)Gag>Tag	p.E83*	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	83	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						CACGGACAACGAGGAGGAGAT	0.642000													6	52					3.59834e-05	3.65419e-05	1	1	0
COG1	9382	broad.mit.edu	37	17	71193193	71193193	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:71193193C>G	ENST00000299886.4	+	3	795	c.715C>G	c.(715-717)Cag>Gag	p.Q239E		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	239					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGCAACTATTCAGAAACTTCT	0.532000													8	85					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562601	61562601	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:61562601C>T	ENST00000457692.1	+	4	605	c.272C>T	c.(271-273)cCt>cTt	p.P91L	SERPINB2_ENST00000299502.4_Missense_Mutation_p.P91L|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	91					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTAGTTATCCTGATGCGATT	0.443000													41	125					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322235	55322235	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:55322235G>A	ENST00000314644.2	+	1	453	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGGCTGCATGATGCAGCTCT	0.483000										HNSCC(20;0.049)			36	152					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820535	159820535	+	RNA	SNP	C	C	T			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:159820535C>T	ENST00000497452.1	-	0	517																											ACTGAAAAACCTAAAAAGACG	0.388000													14	54					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840791	107840791	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chrX:107840791G>A	ENST00000328300.6	+	24	2016	c.1772G>A	c.(1771-1773)gGa>gAa	p.G591E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G591E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	591	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						GGCCCGAAAGGAGAGCCTGTG	0.468000									Alport syndrome with Diffuse Leiomyomatosis				10	36					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74593379	74593379	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr2:74593379G>A	ENST00000361874.3	-	23	3069	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S	DCTN1_ENST00000409868.1_Missense_Mutation_p.P901S|DCTN1_ENST00000407639.2_Missense_Mutation_p.P784S|DCTN1_ENST00000409240.1_Missense_Mutation_p.P881S|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.P911S|DCTN1_ENST00000409567.3_Missense_Mutation_p.P898S|DCTN1_ENST00000409438.1_Missense_Mutation_p.P784S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	918					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTTGCTGGGGGGCCGCTCT	0.562000													21	106					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122786	29122786	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr18:29122786G>A	ENST00000261590.8	+	14	2514	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	769					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCACTGAACGAAGAATTCTT	0.478000													15	65					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781756	107781756	+	Silent	SNP	G	G	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr8:107781756G>A	ENST00000311955.3	-	1	717	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	221					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTACTGGGAGGGCAAGGGGC	0.587000													56	218					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													4	5	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													4	8	---	---	---	---					
ROBO4	54538	broad.mit.edu	37	11	124756949	124756949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr11:124756949delC	ENST00000306534.3	-	15	2844	c.2359delG	c.(2359-2361)agfs	p.E787fs	ROBO4_ENST00000533054.1_Frame_Shift_Del_p.E642fs|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	787					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCTTGATCCTCCCCCAGGGAT	0.617													7	83	---	---	---	---					
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr17:47302390_47302392delAGG	ENST00000413580.1	-	3	512_514	c.95_97delCCT	c.(94-99)tgc>t	p.SC32del	PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	0					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.700													2	4	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40376764	40376765	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:40376764_40376765insA	ENST00000221347.6	-	24	11664_11665	c.11657_11658insT	c.(11656-11658)taafs	p.*3886fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3886						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)			TGCAATCTTTCAAGGGACCCTG	0.584													13	75	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40408387	40408388	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr19:40408387_40408388insA	ENST00000221347.6	-	8	4458_4459	c.4451_4452insT	c.(4450-4452)taafs	p.*1484fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1484						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)			TGCAATCTTTCAAGGGACCCTG	0.584													11	46	---	---	---	---					
FAM83C	128876	broad.mit.edu	37	20	33875362	33875366	+	Frame_Shift_Del	DEL	GGAGG	GGAGG	-			TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr20:33875362_33875366delGGAGG	ENST00000374408.3	-	4	1312_1316	c.1216_1220delCCTCC	c.(1216-1221)tfs	p.PP406fs		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	406										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATAGAGCCCAGGAGGGGAGCCGTGG	0.620													11	49	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													6	2	---	---	---	---					
CYP2D7	1564	broad.mit.edu	37	22	42537119	42537120	+	RNA	INS	-	-	A	rs142656198	by1000genomes	TCGA-FR-A44A-06A-11D-A24R-08	TCGA-FR-A44A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fed284e-6054-43f9-bf93-2803ae978ad5	efa0f45f-32f4-4fb4-8c54-3f51018a34a1	g.chr22:42537119_42537120insA	ENST00000435101.1	-	0	296				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						GGGCTACCACCGGGGCTGATGC	0.614													4	7	---	---	---	---