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
ATAD1	84896	broad.mit.edu	37	10	89527456	89527456	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:89527456G>A	ENST00000308448.7	-	8	1183	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	ATAD1_ENST00000400215.3_Silent_p.L181L|ATAD1_ENST00000328142.3_Silent_p.L269L|ATAD1_ENST00000541004.1_Silent_p.L269L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	269						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATGAGTTTCAGGATTGCTTCT	0.259000													20	100					0	0	0.006320	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562409	140562409	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140562409G>A	ENST00000361016.2	+	1	1430	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTAGATCGAGAGGAGCTA	0.463000													18	40					0	0	0.007413	0	0
GLYR1	84656	broad.mit.edu	37	16	4872923	4872923	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:4872923C>T	ENST00000321919.9	-	7	710	c.634G>A	c.(634-636)Gat>Aat	p.D212N	GLYR1_ENST00000591451.1_Missense_Mutation_p.D212N|GLYR1_ENST00000436648.5_Missense_Mutation_p.D131N|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.D212N	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	212					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GGATCTGCATCTTTAACAGGC	0.493000													39	73					0	0	0.003610	0	0
OSR1	130497	broad.mit.edu	37	2	19553205	19553205	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:19553205T>C	ENST00000536433.1	-	1	3472	c.362A>G	c.(361-363)aAc>aGc	p.N121S	OSR1_ENST00000272223.2_Missense_Mutation_p.N121S			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	121					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CAAGGCCAGGTTGGCAAAATC	0.642000													31	67					0	0	0.008361	0	0
SAMD7	344658	broad.mit.edu	37	3	169646316	169646316	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:169646316G>A	ENST00000428432.2	+	7	1380	c.991G>A	c.(991-993)Gat>Aat	p.D331N	SAMD7_ENST00000335556.3_Missense_Mutation_p.D331N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	331	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACCGTGGATGATGTGCACAG	0.388000													35	102					0	0	0.004878	0	0
MXRA5	25878	broad.mit.edu	37	X	3241070	3241070	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:3241070C>T	ENST00000217939.6	-	5	2810	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	886						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAACAACTTCCTCCAGAGGT	0.478000													38	33					0	0	0.006999	0	0
NFATC2	4773	broad.mit.edu	37	20	50140306	50140306	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:50140306G>A	ENST00000371564.3	-	2	693	c.474C>T	c.(472-474)ttC>ttT	p.F158F	NFATC2_ENST00000396009.3_Silent_p.F158F|NFATC2_ENST00000414705.1_Silent_p.F138F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	158	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTAGCCCTCGAAGCCGGGCA	0.706000													6	17					0	0	0.001168	0	0
PES1	23481	broad.mit.edu	37	22	30976584	30976584	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:30976584G>A	ENST00000402281.1	-	12	1591	c.600C>T	c.(598-600)ccC>ccT	p.P200P	PES1_ENST00000402284.3_Silent_p.P322P|PES1_ENST00000354694.6_Silent_p.P339P|PES1_ENST00000335214.6_Silent_p.P334P|PES1_ENST00000405677.1_Silent_p.P200P			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	339	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGGCCTCACGGGGCACCTCTC	0.612000													25	78					0	0	0.002780	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21008007	21008007	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:21008007G>A	ENST00000381545.3	+	4	349	c.130G>A	c.(130-132)Ggt>Agt	p.G44S	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G44S|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G44S|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G44S|LST3_ENST00000540229.1_Missense_Mutation_p.G44S|LST3_ENST00000381541.3_Missense_Mutation_p.G44S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	44					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	p.G44C(1)		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)					TAAAGCACTAGGTGGAATCAT	0.318000													18	25					0	0	0.001523	0	0
DNAH11	8701	broad.mit.edu	37	7	21723441	21723441	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:21723441C>T	ENST00000328843.6	+	33	5552	c.5521C>T	c.(5521-5523)Cgt>Tgt	p.R1841C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1834C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1841	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCTCAACTTCGTCACCGATG	0.438000									Kartagener syndrome				92	231					0	0	0.003610	0	0
F13A1	2162	broad.mit.edu	37	6	6266812	6266812	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:6266812G>A	ENST00000264870.3	-	4	815	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	184					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGATTGAAGAGAATGTACGTG	0.458000													60	73					0	0	0.003610	0	0
OPRL1	4987	broad.mit.edu	37	20	62729389	62729389	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:62729389C>T	ENST00000349451.3	+	5	880	c.468C>T	c.(466-468)atC>atT	p.I156I	OPRL1_ENST00000336866.2_Silent_p.I156I|OPRL1_ENST00000355631.4_Silent_p.I156I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	156					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCACCCCATCCGTGCCCTCG	0.572000													40	98					0	0	0.008740	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578297	141578297	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:141578297G>A	ENST00000442267.2	-	13	2365	c.2291C>T	c.(2290-2292)cCt>cTt	p.P764L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	764						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCAGGGTAAGGTTCCACATC	0.488000													32	72					0	0	0.002096	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168222	19168222	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:19168222C>T	ENST00000375371.3	-	5	1613		c.e5+1			NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2						detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTGAATCATACCTTCAGTGTG	0.612000													15	90					0	0	0.004990	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924223	43924223	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:43924223C>T	ENST00000329196.5	+	1	1968	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	651						integral to membrane	aspartic-type endopeptidase activity										GGGCCATGTCCATGCCCAGGC	0.642000													31	44					0	0	0.008361	0	0
SLC22A4	6583	broad.mit.edu	37	5	131662987	131662987	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:131662987C>T	ENST00000200652.3	+	5	1016	c.842C>T	c.(841-843)cCc>cTc	p.P281L	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	281					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCTGAATCTCCCCGATGGCTG	0.348000													6	7					0	0	0.001168	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102368210	102368210	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:102368210C>T	ENST00000422945.2	+	11	1196	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.S336F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.S336F|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.S336F|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.S336F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.S391F	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	336					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAATGTGTCTCCAGCCCACAC	0.448000													37	67					0	0	0.005524	0	0
HRH4	59340	broad.mit.edu	37	18	22057250	22057250	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:22057250G>A	ENST00000256906.4	+	3	997	c.897G>A	c.(895-897)agG>agA	p.R299R	HRH4_ENST00000426880.2_Silent_p.R211R	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	299						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTAGAGCCAGGAGATTAGCCA	0.423000													80	139					0	0	0.003610	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68939691	68939691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:68939691G>A	ENST00000356291.2	-	4	378	c.319C>T	c.(319-321)Cga>Tga	p.R107*	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	107	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTGATAAATCGACCGCCTACA	0.249000													4	18					0	0	0.003080	0	0
CHST5	23563	broad.mit.edu	37	16	75564126	75564126	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:75564126G>A	ENST00000336257.3	-	3	1551	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.P59S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	53					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGGGATGAGGGCCCTGGCCGG	0.662000													10	30					0	0	0.000978	0	0
CACNA1D	776	broad.mit.edu	37	3	53781413	53781413	+	Silent	SNP	C	C	T	rs139767790		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:53781413C>T	ENST00000288139.3	+	27	3430	c.3312C>T	c.(3310-3312)ttC>ttT	p.F1104F	CACNA1D_ENST00000350061.5_Silent_p.F1084F|CACNA1D_ENST00000422281.2_Silent_p.F1084F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1084	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATTTCAACTTCGACAACGTCC	0.527000													51	100					0	0	0.003610	0	0
OR8D4	338662	broad.mit.edu	37	11	123777788	123777788	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:123777788C>T	ENST00000321355.2	+	1	680	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATCATTATTTCATATGCTTTT	0.428000													32	84					0	0	0.002445	0	0
ABCB11	8647	broad.mit.edu	37	2	169787195	169787195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:169787195C>T	ENST00000263817.6	-	25	3515	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1131	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGATCAGGATCATAGAAACGT	0.473000													9	26					0	0	0.006214	0	0
CAMK1D	57118	broad.mit.edu	37	10	12802951	12802951	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:12802951T>A	ENST00000378847.3	+	4	641	c.304T>A	c.(304-306)Tcc>Acc	p.S102T	CAMK1D_ENST00000378845.1_Missense_Mutation_p.S102T	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	102	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGCCAGGGTGTCCGGTGGAGA	0.433000													109	194					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52322009	52322009	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:52322009C>T	ENST00000356297.4	-	17	2275	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PXDNL_ENST00000543296.1_Silent_p.A725A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	725					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGTACTTCGCATGGAAAC	0.657000													17	41					0	0	0.007413	0	0
ZFP69B	65243	broad.mit.edu	37	1	40929142	40929142	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:40929142A>G	ENST00000411995.2	+	6	1861	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	ZFP69B_ENST00000361584.3_Missense_Mutation_p.I394V|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		ACATCAGAGAATTCATACTGG	0.373000													12	34					0	0	0.001368	0	0
FOSL2	2355	broad.mit.edu	37	2	28635280	28635280	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:28635280G>A	ENST00000264716.4	+	4	1809	c.946G>A	c.(946-948)Gac>Aac	p.D316N	FOSL2_ENST00000379619.1_Missense_Mutation_p.D308N|FOSL2_ENST00000545753.1_Missense_Mutation_p.D277N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	316					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAATCATCAGACTCCTTGAA	0.632000													17	28					0	0	0.006122	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74328391	74328391	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:74328391C>T	ENST00000446526.3	-	4	861	c.416G>A	c.(415-417)aGg>aAg	p.R139K	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R36K	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	110					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AATGGAACCCCTCTTCCTCAT	0.552000													26	147					0	0	0.008361	0	0
GRIA1	2890	broad.mit.edu	37	5	153085391	153085391	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:153085391C>T	ENST00000285900.5	+	11	1930	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	GRIA1_ENST00000448073.4_Silent_p.F539F|GRIA1_ENST00000521843.2_Silent_p.F460F|GRIA1_ENST00000340592.5_Silent_p.F529F|GRIA1_ENST00000518783.1_Silent_p.F539F|GRIA1_ENST00000518142.1_Silent_p.F449F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	529					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGGTGTCTTCTCCTTCCTTG	0.443000													20	122					0	0	0.002299	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517990	85517990	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:85517990C>T	ENST00000393217.2	+	17	3761	c.3700C>T	c.(3700-3702)Cat>Tat	p.H1234Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1234								p.H1234Y(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCAGAAAAATCATTTGGCCCC	0.423000													21	54					0	0	0.002299	0	0
OR10A3	26496	broad.mit.edu	37	11	7960551	7960551	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:7960551C>T	ENST00000360759.3	-	1	590	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTAATTTCATTGGGGCCA	0.413000													10	38					0	0	0.001368	0	0
CCNA1	8900	broad.mit.edu	37	13	37014168	37014168	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:37014168G>A	ENST00000418263.1	+	6	1293	c.943G>A	c.(943-945)Gat>Aat	p.D315N	CCNA1_ENST00000449823.1_Missense_Mutation_p.D272N|CCNA1_ENST00000440264.1_Missense_Mutation_p.D272N|CCNA1_ENST00000255465.4_Missense_Mutation_p.D316N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	316					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTATATCACCGATGATACATA	0.383000													38	65					0	0	0.006230	0	0
GPX6	257202	broad.mit.edu	37	6	28472256	28472256	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:28472256G>A	ENST00000361902.1	-	5	528	c.479C>T	c.(478-480)tCt>tTt	p.S160F	GPX6_ENST00000474923.1_Silent_p.L127L	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	160					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CAAAAGATCAGAGGTCGGAGG	0.448000													33	47					0	0	0.002836	0	0
LILRB1	10859	broad.mit.edu	37	19	55144687	55144687	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:55144687G>A	ENST00000396331.1	+	8	1536	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	LILRB1_ENST00000396315.1_Silent_p.G393G|LILRB1_ENST00000427581.2_Silent_p.G429G|LILRB1_ENST00000396327.3_Silent_p.G393G|LILRB1_ENST00000396317.1_Silent_p.G393G|LILRB1_ENST00000396321.2_Silent_p.G393G|LILRB1_ENST00000418536.2_Silent_p.G393G|LILRB1_ENST00000448689.1_Silent_p.G393G|LILRB1_ENST00000324602.7_Silent_p.G393G|LILRB1_ENST00000396332.4_Silent_p.G393G|LILRB1_ENST00000434867.2_Silent_p.G393G|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	393	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCATGCGGGGACCTACAGGT	0.592000										HNSCC(37;0.09)			15	57					0	0	0.002096	0	0
MKS1	54903	broad.mit.edu	37	17	56291736	56291736	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:56291736G>A	ENST00000393119.2	-	6	602	c.528C>T	c.(526-528)atC>atT	p.I176I	MKS1_ENST00000337050.7_Silent_p.I176I|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.I176I|MKS1_ENST00000537529.2_Silent_p.I166I	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	176					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.I176I(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGACTTGAGGATGCCGCCCT	0.557000													10	57					0	0	0.008291	0	0
DPY19L4	286148	broad.mit.edu	37	8	95768290	95768290	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:95768290C>T	ENST00000414645.2	+	7	737	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	213						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTGAATACTCCATTCCTTTA	0.313000													135	345					0	0	0.003610	0	0
NRG3	10718	broad.mit.edu	37	10	84711264	84711264	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:84711264C>T	ENST00000372142.2	+	6	705	c.431C>T	c.(430-432)tCa>tTa	p.S144L	NRG3_ENST00000556918.1_Missense_Mutation_p.S195L|NRG3_ENST00000404547.1_Missense_Mutation_p.S365L|NRG3_ENST00000404576.2_Missense_Mutation_p.S169L|NRG3_ENST00000372141.2_Missense_Mutation_p.S365L|NRG3_ENST00000545131.1_Missense_Mutation_p.S15L|NRG3_ENST00000537893.1_Missense_Mutation_p.S15L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	365	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGTCAATTTCATGTATCATC	0.378000													39	60					0	0	0.008740	0	0
ALOX5AP	241	broad.mit.edu	37	13	31338174	31338174	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:31338174C>T	ENST00000380490.3	+	5	515	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	139					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TCTTCTTTTTCGGAAGTGACT	0.448000													38	121					0	0	0.005524	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655715	46655715	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:46655715G>A	ENST00000253255.5	-	1	3504	c.3505C>T	c.(3505-3507)Cct>Tct	p.P1169S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1169					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGATCCACAGGATTAGGGATC	0.493000													75	132					0	0	0.003610	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177470	39177470	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:39177470G>A	ENST00000297668.6	-	6	845	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P258S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P258S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P170S|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.P258S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	258	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGGGTCACAGGAGCAATAGTG	0.498000													31	47					0	0	0.002836	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199523	71199523	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:71199523C>T	ENST00000554752.2	-	11	2562	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	MAP3K9_ENST00000555993.2_Missense_Mutation_p.D869N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D588N|MAP3K9_ENST00000554146.1_Missense_Mutation_p.D583N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.D832N			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	855					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACAATTTCATCGCTGTCGGAG	0.602000													21	42					0	0	0.001523	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606305	6606305	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:6606305G>T	ENST00000433363.2	-	5	933	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	SLC13A5_ENST00000293800.6_Missense_Mutation_p.L217M|SLC13A5_ENST00000381074.4_Missense_Mutation_p.L191M|SLC13A5_ENST00000573648.1_Missense_Mutation_p.L234M	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	234						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ATCTGGCCCAGGAGCACCACG	0.652000													32	50					9.65963e-10	1.43367e-09	0.003271	1	0
GABRA2	2555	broad.mit.edu	37	4	46314709	46314709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:46314709G>A	ENST00000510861.1	-	5	453	c.280C>T	c.(280-282)Cga>Tga	p.R94*	GABRA2_ENST00000514090.1_Nonsense_Mutation_p.R94*|GABRA2_ENST00000381620.4_Nonsense_Mutation_p.R94*|GABRA2_ENST00000356504.1_Nonsense_Mutation_p.R94*|GABRA2_ENST00000540012.1_Nonsense_Mutation_p.R39*|GABRA2_ENST00000507069.1_Nonsense_Mutation_p.R94*|GABRA2_ENST00000515082.1_Nonsense_Mutation_p.R94*			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	94					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R94*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATTTTTGTCGAAAGAAAACA	0.279000													10	31					0	0	0.008291	0	0
PAM	5066	broad.mit.edu	37	5	102310099	102310099	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:102310099C>T	ENST00000438793.3	+	14	1912	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	PAM_ENST00000274392.9_Missense_Mutation_p.P384L|PAM_ENST00000455264.2_Missense_Mutation_p.P481L|PAM_ENST00000348126.2_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.P481L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.P481L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	481	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTACAGCAGCCCCCACCTGGT	0.468000													19	69					0	0	0.002299	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433628	69433628	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69433628G>A	ENST00000317746.2	-	1	617	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	192					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TACATAGGAAGGAGGGAACAG	0.383000													50	128					0	0	0.003610	0	0
FBLN2	2199	broad.mit.edu	37	3	13613099	13613099	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:13613099C>T	ENST00000404922.3	+	2	1363	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	FBLN2_ENST00000295760.7_Missense_Mutation_p.S415F|FBLN2_ENST00000492059.1_Missense_Mutation_p.S415F|FBLN2_ENST00000535798.1_Missense_Mutation_p.S441F	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	415	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCCCCATTCCCACGTGGAG	0.582000													8	26					0	0	0.006214	0	0
RSAD2	91543	broad.mit.edu	37	2	7030342	7030342	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:7030342T>G	ENST00000382040.3	+	4	910	c.774T>G	c.(772-774)tgT>tgG	p.C258W	RSAD2_ENST00000541728.1_Missense_Mutation_p.C151W	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	258					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GTGAGAATTGTGGAGAAGATG	0.448000													19	67					0	0	0.007413	0	0
USP16	10600	broad.mit.edu	37	21	30414797	30414797	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:30414797C>T	ENST00000334352.4	+	13	1358	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	USP16_ENST00000399975.3_Missense_Mutation_p.S375F|USP16_ENST00000399976.2_Missense_Mutation_p.S376F|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	376					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GTTAAGGTCTCCTTGGTTCAT	0.368000													15	60					0	0	0.004007	0	0
TBC1D29	26083	broad.mit.edu	37	17	28887652	28887652	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:28887652C>T	ENST00000580161.1	+	4	2593	c.96C>T	c.(94-96)acC>acT	p.T32T	TBC1D29_ENST00000579181.1_Silent_p.T32T|TBC1D29_ENST00000584297.1_Silent_p.T32T			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	32	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCGGGCTCACCCCGTGCCTGT	0.557000													23	66					0	0	0.002780	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208214	70208214	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:70208214G>A	ENST00000253925.7	+	20	2811	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K	PPFIA1_ENST00000389547.3_Missense_Mutation_p.E866K|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	866				E -> G (in Ref. 3; AAH34046).	cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAATTGCTGGAGGAAGCCCG	0.498000													30	79					0	0	0.002836	0	0
SAMD9	54809	broad.mit.edu	37	7	92731662	92731662	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:92731662A>G	ENST00000379958.2	-	3	4018	c.3749T>C	c.(3748-3750)cTc>cCc	p.L1250P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1250						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTTTTTGAGGGCTAATTT	0.279000													23	75					0	0	0.003330	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871371	8871371	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:8871371G>A	ENST00000256707.3	-	30	4976	c.4795C>T	c.(4795-4797)Ctg>Ttg	p.L1599L	KIDINS220_ENST00000473731.1_Silent_p.L1580L|KIDINS220_ENST00000427284.1_Silent_p.L1580L|KIDINS220_ENST00000418530.1_Silent_p.L1500L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1599					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.L1599L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCATTGTGCAGAGAGTGATTG	0.468000													21	43					0	0	0.001523	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	RNA	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:1593261A>T	ENST00000436493.2	-	0	364																											CTCAGGGCACATGCCTGACCA	0.542000													4	36					0	0	0.000602	0	0
GPKOW	27238	broad.mit.edu	37	X	48973501	48973501	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:48973501G>T	ENST00000156109.5	-	6	874	c.796C>A	c.(796-798)Cct>Act	p.P266T		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	266	KOW 1.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACATTGTCAGGATCAAGGCCT	0.547000													15	13					6.49762e-13	9.66477e-13	0.006122	1	0
MUC16	94025	broad.mit.edu	37	19	9048071	9048071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9048071G>A	ENST00000397910.4	-	5	33763	c.33560C>T	c.(33559-33561)tCt>tTt	p.S11187F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11189	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						CTTTGCCTCAGAATGGGTGAC	0.458000													20	22					0	0	0.001882	0	0
GRAP2	9402	broad.mit.edu	37	22	40364204	40364204	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:40364204A>C	ENST00000344138.4	+	6	881	c.618A>C	c.(616-618)caA>caC	p.Q206H	GRAP2_ENST00000540310.1_Missense_Mutation_p.Q140H|GRAP2_ENST00000399090.2_Missense_Mutation_p.Q93H|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q134H|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q206H|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q166H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	206					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						agcctccgcaatatgccccag	0.617000													5	7					0	0	0.000602	0	0
MMP26	56547	broad.mit.edu	37	11	5013258	5013258	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5013258G>A	ENST00000380390.1	+	6	876	c.660G>A	c.(658-660)ggG>ggA	p.G220G	MMP26_ENST00000300762.1_Silent_p.G220G			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	220					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGCACTCTGGGAATCAGAGCT	0.418000													19	31					0	0	0.002299	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957500	73957500	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:73957500G>A	ENST00000358602.4	-	29	5961	c.5845C>T	c.(5845-5847)Cat>Tat	p.H1949Y	ANKRD17_ENST00000509867.2_Missense_Mutation_p.H1836Y|ANKRD17_ENST00000330838.6_Missense_Mutation_p.H1698Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1949					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTGCTATGGCGAGGCACC	0.507000													60	126					0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92731663	92731663	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:92731663G>A	ENST00000379958.2	-	3	4017	c.3748C>T	c.(3748-3750)Ctc>Ttc	p.L1250F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1250						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGTTTTTGAGGGCTAATTTA	0.279000													24	76					0	0	0.003954	0	0
RBBP6	5930	broad.mit.edu	37	16	24583080	24583080	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24583080C>T	ENST00000319715.4	+	18	5125	c.4693C>T	c.(4693-4695)Cct>Tct	p.P1565S	RBBP6_ENST00000381039.3_Missense_Mutation_p.P725S|RBBP6_ENST00000348022.2_Missense_Mutation_p.P1531S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1565					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGATAAAAATCCTTGTAAGGA	0.368000													9	37					0	0	0.006214	0	0
GPR179	440435	broad.mit.edu	37	17	36485713	36485713	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:36485713C>T	ENST00000342292.4	-	11	3759	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1247						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCAGTGACCTCCCAGGGGCAT	0.607000													38	113					0	0	0.005524	0	0
CBLC	23624	broad.mit.edu	37	19	45281419	45281419	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:45281419G>A	ENST00000270279.3	+	1	294	c.231G>A	c.(229-231)ggG>ggA	p.G77G	CBLC_ENST00000341505.4_Silent_p.G77G	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	77	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				gcggcTCTGGGGACTTTCTAC	0.716000			M		AML								69	74					0	0	0.003610	0	0
LRP5	4041	broad.mit.edu	37	11	68125199	68125199	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:68125199G>A	ENST00000294304.7	+	3	676	c.570G>A	c.(568-570)gtG>gtA	p.V190V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	190	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGATCATTGTGGACTCGGACA	0.602000													14	20					0	0	0.003163	0	0
ZBBX	79740	broad.mit.edu	37	3	167031806	167031806	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:167031806A>G	ENST00000392766.2	-	16	1713	c.1373T>C	c.(1372-1374)cTt>cCt	p.L458P	ZBBX_ENST00000392764.1_Missense_Mutation_p.L429P|ZBBX_ENST00000455345.2_Missense_Mutation_p.L458P|ZBBX_ENST00000392767.2_Missense_Mutation_p.L458P|ZBBX_ENST00000307529.5_Missense_Mutation_p.L458P	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	458						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTCAGACAAAGATTTAAGAA	0.308000													25	113					0	0	0.004656	0	0
KCNRG	283518	broad.mit.edu	37	13	50589914	50589914	+	Silent	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:50589914T>A	ENST00000360473.4	+	1	525	c.285T>A	c.(283-285)gtT>gtA	p.V95V	TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_Silent_p.V95V|TRIM13_ENST00000378182.3_3'UTR	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	95	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTTCTCTAGTTGATCTCTTAA	0.418000													46	141					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618650	77618650	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:77618650C>T	ENST00000521891.2	+	2	2775	c.2327C>T	c.(2326-2328)aCc>aTc	p.T776I	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T776I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T776I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T776I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	776						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATTATGAAACCAATGTCGCC	0.507000										HNSCC(33;0.089)			13	23					0	0	0.001368	0	0
FAT1	2195	broad.mit.edu	37	4	187535406	187535406	+	Silent	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:187535406A>C	ENST00000441802.2	-	12	9377	c.9168T>G	c.(9166-9168)gcT>gcG	p.A3056A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3056	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAGTAATTTCAGCGTTAGAGC	0.393000										HNSCC(5;0.00058)			29	149					0	0	0.008361	0	0
FBXL19	54620	broad.mit.edu	37	16	30941595	30941595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:30941595C>T	ENST00000338343.4	+	7	1378	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	FBXL19_ENST00000380310.2_Missense_Mutation_p.R351W|FBXL19_ENST00000565690.1_Missense_Mutation_p.R215W|FBXL19_ENST00000471231.2_Missense_Mutation_p.R39W|FBXL19_ENST00000562319.1_Missense_Mutation_p.R331W			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	351	Ser-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGGCGAGGCCCGGAATGGGCG	0.706000													9	44					0	0	0.006214	0	0
UBTD2	92181	broad.mit.edu	37	5	171639076	171639076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:171639076G>A	ENST00000393792.2	-	3	868	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	155	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGCGCAAACGAAGCTGACAT	0.498000													31	122					0	0	0.003755	0	0
OR4K2	390431	broad.mit.edu	37	14	20344665	20344665	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:20344665A>T	ENST00000298642.2	+	1	275	c.239A>T	c.(238-240)aAg>aTg	p.K80M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCACCCCAAAGATGATTACA	0.413000													56	137					0	0	0.003610	0	0
CDC27	996	broad.mit.edu	37	17	45221283	45221283	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:45221283G>A	ENST00000066544.3	-	10	1229	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	CDC27_ENST00000446365.2_Missense_Mutation_p.S318L|CDC27_ENST00000527547.1_Missense_Mutation_p.S379L|CDC27_ENST00000531206.1_Missense_Mutation_p.S385L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGAGTCGTGAACTTCTTCG	0.373000													12	25					0	0	0.001855	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005062	153005062	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:153005062C>T	ENST00000307098.4	+	2	306	c.241C>T	c.(241-243)Cca>Tca	p.P81S	SPRR1B_ENST00000392661.3_Missense_Mutation_p.P65S	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	81					keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCAGCACCAGCCCAGCA	0.607000													18	48					0	0	0.006122	0	0
DNAH3	55567	broad.mit.edu	37	16	21063184	21063184	+	Missense_Mutation	SNP	C	C	T	rs143443640	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:21063184C>T	ENST00000261383.3	-	29	4044	c.4045G>A	c.(4045-4047)Gac>Aac	p.D1349N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1349N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1349	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACCACGTCGCGGGCTGTT	0.517000													41	80					0	0	0.007835	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631078	6631078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:6631078C>T	ENST00000333172.6	+	2	494	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.Q101*|TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Q101*	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	101					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)		CCTGGGGTACCAGCTGTATGA	0.552000													49	106					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70989289	70989289	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:70989289C>T	ENST00000393567.2	-	40	6455	c.6305G>A	c.(6304-6306)gGa>gAa	p.G2102E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2102										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)				AGCCTCCTCTCCTTCCTTCAC	0.567000													13	55					0	0	0.004007	0	0
NRDE2	55051	broad.mit.edu	37	14	90756749	90756749	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:90756749G>A	ENST00000354366.3	-	10	2277	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	NRDE2_ENST00000357904.3_Missense_Mutation_p.P451L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		AGAAAACAAAGGGTTGAAAAA	0.502000													15	28					0	0	0.004007	0	0
NME8	51314	broad.mit.edu	37	7	37936583	37936583	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:37936583C>T	ENST00000199447.4	+	17	2028	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.I552I	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	552	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTGACTCCATCCGAGCCCAGT	0.438000													23	65					0	0	0.001882	0	0
KRT25	147183	broad.mit.edu	37	17	38907544	38907544	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:38907544T>A	ENST00000312150.4	-	4	764	c.704A>T	c.(703-705)aAc>aTc	p.N235I		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CACGTTCACGTTGCCTCCAGC	0.542000													10	37					0	0	0.008291	0	0
PPARG	5468	broad.mit.edu	37	3	12421306	12421306	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:12421306C>T	ENST00000397026.2	+	4	503	c.120C>T	c.(118-120)atC>atT	p.I40I	PPARG_ENST00000539812.1_Silent_p.I32I|PPARG_ENST00000309576.6_Silent_p.I34I|PPARG_ENST00000397000.1_Silent_p.I34I|PPARG_ENST00000397010.2_Silent_p.I34I|PPARG_ENST00000397012.2_Silent_p.I34I|PPARG_ENST00000397015.2_Silent_p.I34I|PPARG_ENST00000287820.6_Silent_p.I62I			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	62			P -> A (in dbSNP:rs1805192).		activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCTTTGATATCAAGCCCTTCA	0.468000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						209	555					0	0	0.003610	0	0
EIF3L	51386	broad.mit.edu	37	22	38273723	38273723	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:38273723G>A	ENST00000412331.2	+	11	1702	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	EIF3L_ENST00000406934.1_Missense_Mutation_p.A276T|EIF3L_ENST00000381683.6_Missense_Mutation_p.A326T	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	374						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCTGGCCATTGCCCTCACGAT	0.542000													34	93					0	0	0.005524	0	0
CCDC57	284001	broad.mit.edu	37	17	80121180	80121180	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80121180C>T	ENST00000392347.1	-	13	1972	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	CCDC57_ENST00000389641.4_Missense_Mutation_p.G646R|CCDC57_ENST00000392343.3_Missense_Mutation_p.G646R|CCDC57_ENST00000327026.3_5'UTR	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	646										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACAGATCCTCCTGCTTGACCA	0.572000													39	56					0	0	0.005524	0	0
ANK2	287	broad.mit.edu	37	4	114260454	114260454	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:114260454C>T	ENST00000357077.4	+	32	3922	c.3869C>T	c.(3868-3870)tCc>tTc	p.S1290F	ANK2_ENST00000506722.1_Missense_Mutation_p.S1281F|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Missense_Mutation_p.S1290F|ANK2_ENST00000509550.1_Missense_Mutation_p.S466F|ANK2_ENST00000264366.6_Missense_Mutation_p.S1257F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1257					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAATGTGTTTCCTTTACAACA	0.373000													29	40					0	0	0.003755	0	0
CEP95	90799	broad.mit.edu	37	17	62504805	62504805	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62504805C>T	ENST00000556440.2	+	2	625	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	CEP95_ENST00000581056.1_Missense_Mutation_p.L39F|CEP95_ENST00000553412.1_5'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	39						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTTTATTGCTCTTTATCAGTC	0.338000													15	87					0	0	0.004990	0	0
SLC27A6	28965	broad.mit.edu	37	5	128321002	128321002	+	Missense_Mutation	SNP	C	C	T	rs151090767	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:128321002C>T	ENST00000262462.4	+	2	1668	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L220F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L220F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	220					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTCTACTTGTCTTTACATTTT	0.423000													16	50					0	0	0.007413	0	0
C9orf131	138724	broad.mit.edu	37	9	35042999	35042999	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:35042999G>A	ENST00000312292.5	+	2	420	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	C9orf131_ENST00000421362.2_Missense_Mutation_p.E77K|C9orf131_ENST00000354479.5_Missense_Mutation_p.E52K	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	125										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)			TCCTACCAAAGAAGCTCCCAC	0.542000													41	44					0	0	0.005524	0	0
KCNA5	3741	broad.mit.edu	37	12	5155058	5155058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:5155058C>T	ENST00000252321.3	+	1	1974	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	582						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGCAGCTGCCCCCTAGAGAAG	0.602000													19	41					0	0	0.006122	0	0
ASXL3	80816	broad.mit.edu	37	18	31324855	31324855	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:31324855G>A	ENST00000269197.5	+	12	5043	c.5043G>A	c.(5041-5043)atG>atA	p.M1681I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTTAGAATGGACACTGAAG	0.483000													11	81					0	0	0.000978	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438821	84438821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:84438821G>A	ENST00000416219.2	+	3	387	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E100K			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	100					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			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						TGACAACAGCGAACCTGTGTG	0.547000													17	25					0	0	0.004990	0	0
RGS9	8787	broad.mit.edu	37	17	63206616	63206616	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:63206616C>T	ENST00000449996.3	+	17	1363	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	RGS9_ENST00000443584.3_Missense_Mutation_p.P431S|RGS9_ENST00000262406.9_Missense_Mutation_p.P434S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	434					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTCCACCCTCCCTTTTATGCG	0.577000													30	92					0	0	0.003271	0	0
GGA1	26088	broad.mit.edu	37	22	38021897	38021897	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:38021897C>G	ENST00000406772.1	+	12	1467	c.815C>G	c.(814-816)gCc>gGc	p.A272G	GGA1_ENST00000337437.4_Missense_Mutation_p.A312G|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000343632.4_Missense_Mutation_p.A345G|GGA1_ENST00000381756.5_Missense_Mutation_p.A362G	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	345	GAT.|Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGCGAGCAGGCCAGCCCTGAG	0.687000													31	69					0	0	0.005524	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174407	72174407	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:72174407C>T	ENST00000537465.1	-	6	869	c.711G>A	c.(709-711)gaG>gaA	p.E237E	PMFBP1_ENST00000355636.6_Silent_p.E92E|PMFBP1_ENST00000237353.10_Silent_p.E237E			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	237										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTTTCTGAGTCTCCTGATGCT	0.428000													76	124					0	0	0.003610	0	0
RSRC1	51319	broad.mit.edu	37	3	158262013	158262013	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:158262013G>A	ENST00000464171.1	+	9	905	c.780G>A	c.(778-780)aaG>aaA	p.K260K	RSRC1_ENST00000480820.1_Silent_p.K318K|RSRC1_ENST00000475278.2_Silent_p.K267K|RSRC1_ENST00000312179.6_Silent_p.K260K|RSRC1_ENST00000295930.3_Silent_p.K318K	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	318					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AATGGTTCAAGAGATTAATTG	0.348000													41	101					0	0	0.003610	0	0
DDX53	168400	broad.mit.edu	37	X	23018892	23018892	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:23018892G>A	ENST00000327968.5	+	1	806	c.718G>A	c.(718-720)Gta>Ata	p.V240I	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	240						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CATAATAAGGGTAGGGATTGT	0.408000													24	19					0	0	0.002780	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21897151	21897151	+	Missense_Mutation	SNP	G	G	A	rs144234125		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:21897151G>A	ENST00000319481.3	-	11	1038	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	278	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATCCCTGGCGATAAATATTA	0.348000													32	50					0	0	0.004289	0	0
GYS2	2998	broad.mit.edu	37	12	21733319	21733319	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:21733319G>A	ENST00000261195.2	-	2	514	c.260C>T	c.(259-261)gCt>gTt	p.A87V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	87					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTTCTGACAGCATCATTTAC	0.413000													60	176					0	0	0.003610	0	0
MYH9	4627	broad.mit.edu	37	22	36681727	36681727	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:36681727G>A	ENST00000216181.5	-	37	5481	c.5251C>T	c.(5251-5253)Cgg>Tgg	p.R1751W	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1751					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTCTTCAGCCGGTCGTTGATC	0.667000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	35					0	0	0.001368	0	0
KSR2	283455	broad.mit.edu	37	12	118198936	118198936	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:118198936C>T	ENST00000425217.1	-	4	833	c.779G>A	c.(778-780)gGg>gAg	p.G260E	KSR2_ENST00000339824.5_Missense_Mutation_p.G289E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	289	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGGGGTCCCCGGGGGCTT	0.677000													127	391					0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47831639	47831639	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:47831639G>A	ENST00000359568.5	+	28	5759	c.5652G>A	c.(5650-5652)aaG>aaA	p.K1884K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1884					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)					ACCAGCGGAAGGCGGCCCACT	0.667000													9	38					0	0	0.004482	0	0
CDHR3	222256	broad.mit.edu	37	7	105662830	105662830	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:105662830G>A	ENST00000542731.1	+	14	2120	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E	CDHR3_ENST00000317716.9_Missense_Mutation_p.G671E|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.G583E|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	671	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTTGAGACAGGAACAGTGACA	0.488000													56	130					0	0	0.003610	0	0
KIF26A	26153	broad.mit.edu	37	14	104639320	104639320	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:104639320C>T	ENST00000315264.7	+	7	1388	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	KIF26A_ENST00000423312.2_Missense_Mutation_p.S476L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	476					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCAGGCAAGTCGTACACCATG	0.667000													11	11					0	0	0.008291	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339714	13339714	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:13339714G>A	ENST00000602906.1	+	0	1065																				kidney(3)|lung(1)	4						AGTTACCAAGGAGGGCCTGGA	0.502000													3	6					0	0	0.004672	0	0
PPARA	5465	broad.mit.edu	37	22	46594430	46594430	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:46594430C>T	ENST00000396000.2	+	3	415	c.150C>T	c.(148-150)ggC>ggT	p.G50G	PPARA_ENST00000402126.1_Silent_p.G50G|PPARA_ENST00000407236.1_Silent_p.G50G|PPARA_ENST00000434345.2_Silent_p.G50G|PPARA_ENST00000262735.5_Silent_p.G50G			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	50					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GAAGCTTTGGCTTTACGGAAT	0.453000													43	103					0	0	0.003610	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:196928040G>A	ENST00000367415.4	+	5	757	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.E215K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000													9	24					0	0	0.006214	0	0
PDE6B	5158	broad.mit.edu	37	4	628613	628613	+	Missense_Mutation	SNP	G	G	A	rs140444984		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:628613G>A	ENST00000255622.6	+	2	659	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E206K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	206	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCGAAGACGAAGATGTGAG	0.602000													12	55					0	0	0.004007	0	0
EPC2	26122	broad.mit.edu	37	2	149528411	149528411	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:149528411T>A	ENST00000258484.6	+	9	1315	c.1281T>A	c.(1279-1281)gaT>gaA	p.D427E		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	427					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATTGGCAGATTTGGATAAGT	0.393000													26	75					0	0	0.004656	0	0
GPR68	8111	broad.mit.edu	37	14	91701088	91701088	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:91701088C>T	ENST00000535815.1	-	2	647	c.307G>A	c.(307-309)Gag>Aag	p.E103K	GPR68_ENST00000531499.2_Missense_Mutation_p.E103K|GPR68_ENST00000238699.3_Missense_Mutation_p.E113K	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	103					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TAGATGTTCTCGTACAGGAGG	0.612000													9	24					0	0	0.006214	0	0
AKAP9	10142	broad.mit.edu	37	7	91722539	91722539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:91722539G>T	ENST00000359028.2	+	39	9724	c.9499G>T	c.(9499-9501)Gaa>Taa	p.E3167*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E3113*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E3163*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3167					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGTGGTTGCTGAACTGAAGAG	0.463000			T	BRAF	papillary thyroid								27	55					1.2476e-16	1.86591e-16	0.006320	1	0
TPO	7173	broad.mit.edu	37	2	1481010	1481010	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:1481010G>A	ENST00000345913.4	+	8	1063	c.972G>A	c.(970-972)ctG>ctA	p.L324L	TPO_ENST00000337415.3_Silent_p.L324L|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Silent_p.L324L|TPO_ENST00000382201.3_Silent_p.L324L|TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.L324L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	324					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTCGTTCCTGGACGCGTCCA	0.701000													12	35					0	0	0.000978	0	0
C9orf72	203228	broad.mit.edu	37	9	27556764	27556764	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:27556764G>A	ENST00000380003.3	-	8	949	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	296										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ATGACTTGCCGGAAAGGCAGC	0.373000													71	71					0	0	0.003610	0	0
C12orf74	338809	broad.mit.edu	37	12	93100576	93100576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:93100576C>T	ENST00000544406.2	+	2	435	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	C12orf74_ENST00000397833.3_Missense_Mutation_p.R57C			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	57										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						ATTAAGGACCCGTGGCTGTGG	0.622000													31	67					0	0	0.002445	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852732	22852732	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:22852732A>G	ENST00000404138.1	+	19	4074	c.3563A>G	c.(3562-3564)cAg>cGg	p.Q1188R	ZBTB40_ENST00000374651.4_Missense_Mutation_p.Q1076R|ZBTB40_ENST00000375647.4_Missense_Mutation_p.Q1188R	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1188					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCGACAGAGCAGGTGATCACT	0.582000													31	52					0	0	0.008361	0	0
WSCD2	9671	broad.mit.edu	37	12	108589750	108589750	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:108589750G>A	ENST00000332082.4	+	3	959	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WSCD2_ENST00000547525.1_Silent_p.G47G|WSCD2_ENST00000261400.3_Silent_p.G47G|WSCD2_ENST00000549903.1_Silent_p.G47G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	47						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTCTCGGGGAACCAGGCGA	0.612000													56	168					0	0	0.003610	0	0
C7orf61	402573	broad.mit.edu	37	7	100054486	100054486	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100054486G>A	ENST00000332375.3	-	3	755	c.510C>T	c.(508-510)cgC>cgT	p.R170R		NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	170										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						GGTACAGCCGGCGCAGGTGTT	0.632000													11	17					0	0	0.000978	0	0
DOK1	1796	broad.mit.edu	37	2	74783057	74783057	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:74783057C>T	ENST00000233668.5	+	4	1160	c.491C>T	c.(490-492)gCc>gTc	p.A164V	DOK1_ENST00000340004.6_Intron|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.A25V	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	164	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGACTGAGGCCGCCGAGCGC	0.637000													23	62					0	0	0.004656	0	0
CMYA5	202333	broad.mit.edu	37	5	79028741	79028741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:79028741C>T	ENST00000446378.2	+	2	4184	c.4153C>T	c.(4153-4155)Cgt>Tgt	p.R1385C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1385						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCTGTAGATCGTCCAGTCTT	0.398000													16	24					0	0	0.004990	0	0
CARF	79800	broad.mit.edu	37	2	203839116	203839116	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:203839116C>T	ENST00000320443.8	+	12	2434	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F	CARF_ENST00000402905.2_Missense_Mutation_p.S464F|CARF_ENST00000545262.1_Missense_Mutation_p.S388F|CARF_ENST00000414439.1_Missense_Mutation_p.S362F|CARF_ENST00000438828.2_Missense_Mutation_p.S464F|CARF_ENST00000428585.1_Missense_Mutation_p.S388F|CARF_ENST00000545253.1_Missense_Mutation_p.S376F|WDR12_ENST00000477723.1_Intron					calcium responsive transcription factor																		CATAATTTATCTTTTTTTCCA	0.318000													90	267					0	0	0.003610	0	0
ZNF215	7762	broad.mit.edu	37	11	6977075	6977075	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:6977075C>T	ENST00000278319.5	+	7	1455	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Silent_p.F289F|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	289					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAGAGGCTTTCATTCCTGAGA	0.363000													38	86					0	0	0.006230	0	0
GPR98	84059	broad.mit.edu	37	5	89920996	89920996	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:89920996G>A	ENST00000405460.2	+	6	704	c.608G>A	c.(607-609)gGa>gAa	p.G203E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	203	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGTTAAAGGAAATATCACC	0.418000													8	23					0	0	0.006214	0	0
GPR63	81491	broad.mit.edu	37	6	97247595	97247595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:97247595C>T	ENST00000229955.3	-	2	358	c.13G>A	c.(13-15)Gca>Aca	p.A5T	GPR63_ENST00000417980.1_Missense_Mutation_p.A5T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	5						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCAACACTGCCGAGAAGACC	0.463000													23	41					0	0	0.002780	0	0
CD163	9332	broad.mit.edu	37	12	7637841	7637841	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:7637841G>A	ENST00000359156.4	-	11	2832	c.2630C>T	c.(2629-2631)cCt>cTt	p.P877L	CD163_ENST00000432237.2_Missense_Mutation_p.P877L|CD163_ENST00000541972.1_Missense_Mutation_p.P865L|CD163_ENST00000396620.3_Missense_Mutation_p.P910L|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	877	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAAAGATGCAGGGTTGATTTT	0.532000													41	81					0	0	0.002222	0	0
SLC24A3	57419	broad.mit.edu	37	20	19698204	19698204	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:19698204C>T	ENST00000328041.6	+	16	1949	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGATCTACTCCGTAGGCTTGC	0.507000													103	265					0	0	0.003610	0	0
ERN2	10595	broad.mit.edu	37	16	23722330	23722330	+	Missense_Mutation	SNP	G	G	A	rs139816512		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:23722330G>A	ENST00000256797.4	-	2	415	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	ERN2_ENST00000457008.2_Missense_Mutation_p.L35F	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	35					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCTGGCCTGAGAGTATGAACC	0.577000													13	81					0	0	0.002450	0	0
OR51V1	283111	broad.mit.edu	37	11	5221142	5221142	+	Silent	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5221142A>G	ENST00000321255.1	-	1	788	c.789T>C	c.(787-789)ccT>ccC	p.P263P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTAATGATAGGGATGTAGA	0.478000													13	69					0	0	0.001368	0	0
EFHC1	114327	broad.mit.edu	37	6	52303138	52303138	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:52303138C>T	ENST00000371068.5	+	3	425	c.322C>T	c.(322-324)Cct>Tct	p.P108S	EFHC1_ENST00000433625.2_Missense_Mutation_p.P17S|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.P89S	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	108	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGATGTTCCTATGTCAAC	0.358000													9	21					0	0	0.004482	0	0
WEE2	494551	broad.mit.edu	37	7	141424038	141424038	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:141424038G>A	ENST00000397541.2	+	8	1590	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	395	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GTGGAAGAAGGAGATAGTCGC	0.368000													24	86					0	0	0.006320	0	0
TMEM38B	55151	broad.mit.edu	37	9	108467950	108467950	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:108467950G>A	ENST00000374688.1	+	2	733	c.23G>A	c.(22-24)gGa>gAa	p.G8E	TMEM38B_ENST00000374692.3_Missense_Mutation_p.G62E			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	62						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTGGTGGAGGAATTTTATCC	0.423000													31	50					0	0	0.002836	0	0
OR5L1	219437	broad.mit.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:55579578G>A	ENST00000333973.2	+	1	725	c.636G>A	c.(634-636)atG>atA	p.M212I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502000													20	102					0	0	0.008871	0	0
TMX3	54495	broad.mit.edu	37	18	66354939	66354939	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:66354939A>C	ENST00000299608.2	-	10	1017	c.701T>G	c.(700-702)aTg>aGg	p.M234R		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	234					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GAAGCCATCCATAGCAAGGTA	0.338000													36	75					0	0	0.007835	0	0
INHBA	3624	broad.mit.edu	37	7	41730115	41730115	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:41730115G>A	ENST00000242208.4	-	3	660	c.414C>T	c.(412-414)ttC>ttT	p.F138F	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.F138F|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	138					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGAAATCTCGAAGTGCAGCG	0.483000										TSP Lung(11;0.080)			7	37					0	0	0.003080	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566350	129566350	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:129566350C>T	ENST00000422113.2	-	7	2203	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G164D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	626						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATCTGTCCGCCTTGCAGCTT	0.522000													27	42					0	0	0.001786	0	0
SDR9C7	121214	broad.mit.edu	37	12	57317656	57317656	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:57317656G>A	ENST00000293502.1	-	4	1046	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	301						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ACCGGCTTAGGATGAAATCTG	0.577000													17	74					0	0	0.004990	0	0
MSRB3	253827	broad.mit.edu	37	12	65847568	65847568	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:65847568C>T	ENST00000308259.5	+	6	627	c.353C>T	c.(352-354)tCc>tTc	p.S118F	MSRB3_ENST00000540804.1_Missense_Mutation_p.S125F|MSRB3_ENST00000535664.1_Missense_Mutation_p.S118F|MSRB3_ENST00000355192.3_Missense_Mutation_p.S125F	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	125					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGACTTTTCCTATGGGATG	0.458000													29	92					0	0	0.002096	0	0
PLAG1	5324	broad.mit.edu	37	8	57079666	57079666	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:57079666G>A	ENST00000316981.3	-	5	1118	c.639C>T	c.(637-639)ttC>ttT	p.F213F	PLAG1_ENST00000423799.2_Silent_p.F131F|PLAG1_ENST00000429357.2_Silent_p.F213F	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	213	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACTGACAGAGGAAGTCCTTTC	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								17	48					0	0	0.006122	0	0
DACH2	117154	broad.mit.edu	37	X	85769311	85769311	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:85769311C>T	ENST00000373131.1	+	2	681	c.518C>T	c.(517-519)tCt>tTt	p.S173F	DACH2_ENST00000373125.4_Missense_Mutation_p.S186F|DACH2_ENST00000508860.1_Missense_Mutation_p.S19F|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCTAAGCGTTCTTTGGGAGTG	0.448000													7	13					0	0	0.004482	0	0
NF2	4771	broad.mit.edu	37	22	30035088	30035088	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:30035088C>T	ENST00000338641.4	+	3	691	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	NF2_ENST00000361166.4_Missense_Mutation_p.H84Y|NF2_ENST00000361452.4_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.H84Y|NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.H42Y|NF2_ENST00000403435.1_Missense_Mutation_p.H84Y|NF2_ENST00000353887.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.H84Y|NF2_ENST00000403999.3_Missense_Mutation_p.H84Y|NF2_ENST00000334961.7_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	84	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.H84_F100del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGTACTGGATCATGATGTTTC	0.433000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				35	43					0	0	0.003271	0	0
PGK2	5232	broad.mit.edu	37	6	49753703	49753703	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:49753703G>A	ENST00000304801.3	-	1	1350	c.1198C>T	c.(1198-1200)Cta>Tta	p.L400L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	400					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGAAGCTCTAGACTGGCACCG	0.478000													43	96					0	0	0.002522	0	0
NALCN	259232	broad.mit.edu	37	13	101844285	101844285	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:101844285G>A	ENST00000251127.6	-	14	1828	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.H583Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	583						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.H583N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAAAAAGATGATAGAGAATG	0.403000													9	19					0	0	0.004482	0	0
MCF2L	23263	broad.mit.edu	37	13	113715025	113715025	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:113715025C>T	ENST00000397030.1	+	5	624	c.588_splice	c.e5+1	p.P196_splice	MCF2L_ENST00000423482.2_Splice_Site_p.P161_splice|MCF2L_ENST00000434480.2_Splice_Site_p.P169_splice|MCF2L_ENST00000375608.3_Splice_Site_p.P193_splice|MCF2L_ENST00000535094.2_Splice_Site_p.P163_splice|MCF2L_ENST00000375604.2_Splice_Site_p.P220_splice|MCF2L_ENST00000421756.1_Splice_Site_p.P167_splice|MCF2L_ENST00000375601.3_Splice_Site_p.P167_splice|MCF2L_ENST00000442652.2_Splice_Site_p.P193_splice|MCF2L_ENST00000375597.4_Splice_Site_p.P161_splice			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	193	CRAL-TRIO.				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ATGAAGGTGCCGGTAAGTGCG	0.542000													4	64					0	0	0.000248	0	0
OR52N4	390072	broad.mit.edu	37	11	5776576	5776576	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5776576G>A	ENST00000317254.3	+	1	654	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCTATGGTCTGATGGTTGCCC	0.493000													15	78					0	0	0.004007	0	0
NRXN2	9379	broad.mit.edu	37	11	64427939	64427939	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:64427939C>T	ENST00000265459.6	-	11	2715	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E721K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E752K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E745K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	752	Laminin G-like 4.				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						TCCTCTGCCTCCGTGTGCATG	0.602000													13	19					0	0	0.001855	0	0
PAK7	57144	broad.mit.edu	37	20	9546826	9546826	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:9546826G>A	ENST00000378429.3	-	6	1742	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	PAK7_ENST00000378423.1_Missense_Mutation_p.S399F|PAK7_ENST00000353224.5_Missense_Mutation_p.S399F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	399	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTCAGGTAGGAAGCCGTGGA	0.602000													35	90					0	0	0.002836	0	0
ACTR8	93973	broad.mit.edu	37	3	53907082	53907082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:53907082G>A	ENST00000335754.3	-	9	1238	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.R85*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R269*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	380					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.R85*(1)|p.R380*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCTCCTAATCGAAACTGGTAA	0.433000													10	22					0	0	0.008291	0	0
DOCK9	23348	broad.mit.edu	37	13	99515291	99515291	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:99515291G>A	ENST00000376460.1	-	32	3641	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	DOCK9_ENST00000448493.2_Silent_p.F1199F|DOCK9_ENST00000442173.1_Silent_p.F1187F|DOCK9_ENST00000339416.2_Silent_p.F1188F|DOCK9_ENST00000461998.1_5'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1188					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTTCACAGGGAAGGGTGACA	0.537000													3	14					0	0	0.000248	0	0
RYR2	6262	broad.mit.edu	37	1	237982430	237982430	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:237982430G>A	ENST00000366574.2	+	101	14845	c.14528G>A	c.(14527-14529)cGa>cAa	p.R4843Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R4827Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R4849Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4843					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGATCTATCGAATCATCTTT	0.418000													30	77					0	0	0.006320	0	0
GRM7	2917	broad.mit.edu	37	3	7348256	7348256	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:7348256G>A	ENST00000486284.1	+	4	1224	c.950G>A	c.(949-951)gGa>gAa	p.G317E	GRM7_ENST00000402647.2_Missense_Mutation_p.G317E|GRM7_ENST00000389336.4_Missense_Mutation_p.G317E|GRM7_ENST00000357716.4_Missense_Mutation_p.G317E|GRM7_ENST00000403881.1_Missense_Mutation_p.G317E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	317					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)	GACAGCTGGGGATCCAAAATA	0.493000													30	77					0	0	0.002445	0	0
RNASEL	6041	broad.mit.edu	37	1	182555916	182555916	+	Missense_Mutation	SNP	G	G	A	rs142378214		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:182555916G>A	ENST00000367559.3	-	2	279	c.26C>T	c.(25-27)cCc>cTc	p.P9L	RNASEL_ENST00000444138.1_Missense_Mutation_p.P9L|RNASEL_ENST00000539397.1_Missense_Mutation_p.P9L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	9					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCCCTCCTGGGGGTTGTTATG	0.478000													50	94					0	0	0.003610	0	0
ADH1A	124	broad.mit.edu	37	4	100203746	100203746	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:100203746G>A	ENST00000209668.2	-	6	698	c.585C>T	c.(583-585)acC>acT	p.T195T	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	195					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.T195T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACACAGCACAGGTAGAGCCTG	0.458000													71	130					0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7569487	7569487	+	Silent	SNP	G	G	A	rs35820473	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:7569487G>A	ENST00000379802.3	+	12	1829	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	DSP_ENST00000418664.2_Silent_p.T496T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGTACGTGACGGGCCCGGGAG	0.557000													37	130					0	0	0.004878	0	0
GCFC2	6936	broad.mit.edu	37	2	75933673	75933673	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:75933673C>T	ENST00000321027.3	-	2	503	c.370G>A	c.(370-372)Gga>Aga	p.G124R	GCFC2_ENST00000409857.3_Missense_Mutation_p.G124R|GCFC2_ENST00000470503.1_Missense_Mutation_p.G124R|GCFC2_ENST00000541687.1_Missense_Mutation_p.G124R	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	124					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TCTTTTTCTCCAAGAGAGCTA	0.318000													20	54					0	0	0.001882	0	0
TMEM55B	90809	broad.mit.edu	37	14	20926768	20926768	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:20926768G>A	ENST00000250489.4	-	7	1070	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	TMEM55B_ENST00000398020.4_Missense_Mutation_p.L269F|TMEM55B_ENST00000554028.1_Missense_Mutation_p.L95F			Q86T03	TM55B_HUMAN	transmembrane protein 55B	262						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GCCCAATAAAGAGCCCGGCCC	0.567000													17	48					0	0	0.004007	0	0
PMS2P3	5387	broad.mit.edu	37	7	75155272	75155272	+	RNA	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:75155272C>A	ENST00000418756.1	-	0	579					NR_028059.1															lung(1)	1						TGGAAACATGCAGAGACTGTG	0.453000													19	40					0.00074312	0.00109221	0.006122	1	0
SCN1A	6323	broad.mit.edu	37	2	166903433	166903433	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:166903433G>A	ENST00000423058.2	-	9	1241	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F408F|SCN1A_ENST00000303395.4_Silent_p.F408F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F408F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	408						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGAGCCCAAGAAAATGACCA	0.393000													30	53					0	0	0.002445	0	0
OR1D2	4991	broad.mit.edu	37	17	2995652	2995652	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:2995652G>A	ENST00000331459.1	-	1	638	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	213					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AAATGATCACGAATCCAAAGG	0.448000													15	73					0	0	0.004990	0	0
GABPB2	126626	broad.mit.edu	37	1	151079543	151079543	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:151079543C>T	ENST00000368918.3	+	7	1098	c.767C>T	c.(766-768)tCc>tTc	p.S256F	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.S218F|GABPB2_ENST00000368917.1_Missense_Mutation_p.S218F	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	256					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GAAGGAAATTCCGTTGACTCA	0.393000													13	35					0	0	0.004007	0	0
MARCO	8685	broad.mit.edu	37	2	119735508	119735508	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:119735508C>T	ENST00000541757.1	+	9	909	c.529C>T	c.(529-531)Cca>Tca	p.P177S	MARCO_ENST00000327097.4_Missense_Mutation_p.P255S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	255	Collagen-like.				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						CCTGGGTCTCCCAGGTGAGGG	0.602000													4	15					0	0	0.000248	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059813	60059813	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:60059813G>A	ENST00000355131.3	+	3	323	c.100G>A	c.(100-102)Gga>Aga	p.G34R	MS4A4A_ENST00000532114.1_Missense_Mutation_p.G53R|MS4A4A_ENST00000337908.4_Missense_Mutation_p.G53R|MS4A4A_ENST00000395016.3_Missense_Mutation_p.G34R	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	53						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TCTGTGGAAAGGATTGCAAGA	0.488000													11	57					0	0	0.008291	0	0
VCX3A	51481	broad.mit.edu	37	X	6451786	6451786	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:6451786C>T	ENST00000381089.3	-	3	867	c.561G>A	c.(559-561)taG>taA	p.*187*	VCX3A_ENST00000398729.1_Silent_p.*167*	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	0					brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						AGCTGGCCGTCTACACACTCG	0.582000													86	110					0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205272734	205272734	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:205272734G>A	ENST00000367157.3	-	7	1857	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	577					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAAGCCCCGTGAGGTTGTCCA	0.647000													29	64					0	0	0.007291	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715696	77715696	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:77715696C>T	ENST00000298351.4	+	21	2077	c.1933C>T	c.(1933-1935)Ccc>Tcc	p.P645S		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	645						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTCCTTTGCACCCACCAAACT	0.537000													34	81					0	0	0.006230	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004903	153004903	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:153004903C>T	ENST00000307098.4	+	2	147	c.82C>T	c.(82-84)Cca>Tca	p.P28S	SPRR1B_ENST00000392661.3_Missense_Mutation_p.P28S	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	28	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGCCAGCCTCCACCTCAGGA	0.627000													40	140					0	0	0.003214	0	0
GRN	2896	broad.mit.edu	37	17	42428479	42428479	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:42428479C>T	ENST00000053867.3	+	8	845	c.783C>T	c.(781-783)ctC>ctT	p.L261L	GRN_ENST00000589923.1_Intron|GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	261					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)		GTAAGTGCCTCTCCAAGGAGA	0.617000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	71					0	0	0.004990	0	0
LTF	4057	broad.mit.edu	37	3	46480832	46480832	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:46480832C>T	ENST00000231751.4	-	15	2158	c.1863G>A	c.(1861-1863)cgG>cgA	p.R621R	LTF_ENST00000417439.1_Silent_p.R619R|LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Silent_p.R577R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	621	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CCTTATCCATCCGAGACACCA	0.552000													40	73					0	0	0.002852	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199187	90199187	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:90199187C>T	ENST00000390276.2	+	0	529																											CTAACAGTTTCCCTCCCACAG	0.532000													30	71					0	0	0.003214	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928164	13928164	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:13928164C>T	ENST00000254323.2	+	7	1504	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P273S	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	439							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TACCCTTTACCCAGGTACTCA	0.632000													19	32					0	0	0.001523	0	0
CD1E	913	broad.mit.edu	37	1	158324216	158324216	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:158324216C>T	ENST00000368160.3	+	2	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S	CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368156.1_Silent_p.S36S|CD1E_ENST00000368167.3_Silent_p.S36S|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.S34S|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Silent_p.S36S|CD1E_ENST00000368155.3_Silent_p.S36S|CD1E_ENST00000368161.3_Silent_p.S36S|CD1E_ENST00000368163.3_Silent_p.S36S|CD1E_ENST00000368157.1_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	36					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGCAGCTGTCCTTCCGCATGC	0.542000													52	124					0	0	0.003610	0	0
KCND2	3751	broad.mit.edu	37	7	119915400	119915400	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:119915400G>A	ENST00000331113.4	+	1	1679	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	238					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCTGCGTCATGATCTTCACAG	0.542000													26	54					0	0	0.005443	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189307	124189307	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:124189307C>T	ENST00000368988.1	+	13	1232	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	PLEKHA1_ENST00000433307.1_Silent_p.F356F|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.S370L|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368990.3_Silent_p.F356F			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	0					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGGGAACTTCAAGGTCCAGA	0.473000													17	60					0	0	0.006122	0	0
SPEN	23013	broad.mit.edu	37	1	16258976	16258976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:16258976C>T	ENST00000375759.3	+	11	6445	c.6241C>T	c.(6241-6243)Cga>Tga	p.R2081*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2081					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)		AGGAAGATCTCGAAACTCCAG	0.512000													21	120					0	0	0.001523	0	0
ZFPM2	23414	broad.mit.edu	37	8	106800990	106800990	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:106800990G>A	ENST00000407775.2	+	6	827	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ZFPM2_ENST00000520492.1_Missense_Mutation_p.E61K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E61K|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	193					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTGAGGGTGAAGAGCTAAT	0.458000													39	77					0	0	0.002852	0	0
KCNK9	51305	broad.mit.edu	37	8	140630786	140630786	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:140630786C>T	ENST00000520439.1	-	2	903	c.840G>A	c.(838-840)cgG>cgA	p.R280R	KCNK9_ENST00000303015.1_Silent_p.R280R			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	280						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCGGCTGGGCCGCGGCTCCT	0.652000													18	70					0	0	0.001523	0	0
MGAM	8972	broad.mit.edu	37	7	141736669	141736669	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:141736669C>T	ENST00000475668.2	+	18	2177	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	MGAM_ENST00000549489.2_Missense_Mutation_p.S708F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	708	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)	CTGTTGAATTCCTCCAGGCAC	0.547000													84	248					0	0	0.003610	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			60	138					3.86002e-21	5.79215e-21	0.003610	1	0
DNAH7	56171	broad.mit.edu	37	2	196913019	196913019	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:196913019C>T	ENST00000312428.6	-	4	351		c.e4+1		DNAH7_ENST00000410072.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAGTTCTTACCATGGGACTG	0.363000													17	58					0	0	0.004990	0	0
LDHA	3939	broad.mit.edu	37	11	18425337	18425337	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:18425337T>C	ENST00000422447.3	+	6	962	c.689T>C	c.(688-690)gTt>gCt	p.V230A	LDHA_ENST00000542179.1_Missense_Mutation_p.V230A|LDHA_ENST00000227157.4_Missense_Mutation_p.V230A|LDHA_ENST00000540430.1_Missense_Mutation_p.V259A|LDHA_ENST00000379412.5_Missense_Mutation_p.V230A|LDHA_ENST00000430553.2_Missense_Mutation_p.V172A|LDHA_ENST00000396222.2_Splice_Site	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	230					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TGGAAAGAGGTTCACAAGCAG	0.353000													23	26					0	0	0.003330	0	0
INSRR	3645	broad.mit.edu	37	1	156816462	156816462	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:156816462G>A	ENST00000368195.3	-	8	2055	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	553	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGGTGCGGCTTAGGGGCA	0.612000													22	51					0	0	0.001882	0	0
SUSD2	56241	broad.mit.edu	37	22	24584256	24584256	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:24584256C>T	ENST00000358321.3	+	14	2666	c.2405C>T	c.(2404-2406)gCg>gTg	p.A802V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	802					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGCGGTTGCGCTCGTCTAT	0.677000													22	65					0	0	0.005443	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673332	38673332	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:38673332G>A	ENST00000222345.6	+	16	4891	c.4382G>A	c.(4381-4383)aGa>aAa	p.R1461K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1461					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGTGGAAGAGAACGGAGGAG	0.637000													23	25					0	0	0.002299	0	0
SYNE3	161176	broad.mit.edu	37	14	95932343	95932343	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:95932343G>A	ENST00000334258.5	-	3	566	c.552C>T	c.(550-552)atC>atT	p.I184I	SYNE3_ENST00000553340.1_Silent_p.I184I|SYNE3_ENST00000557275.1_Silent_p.I184I	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TGGGGTCCCCGATCCTGTTGA	0.637000													31	78					0	0	0.002445	0	0
SYCP1	6847	broad.mit.edu	37	1	115428188	115428188	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115428188G>A	ENST00000369522.3	+	13	1183	c.943G>A	c.(943-945)Gag>Aag	p.E315K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E315K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	315					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAATCAATTGAGAAACAGCA	0.264000													29	56					0	0	0.002836	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962888	94962888	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94962888G>A	ENST00000341228.2	-	4	1522	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R243C	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	243					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R243C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ATGCCACTACGGAACATCATG	0.418000													51	163					0	0	0.003610	0	0
C2CD3	26005	broad.mit.edu	37	11	73824918	73824918	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:73824918G>A	ENST00000334126.7	-	11	1976	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.H584Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	584						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACAGGAAAGTGATATTCTACA	0.353000													18	47					0	0	0.007413	0	0
CACNA1C	775	broad.mit.edu	37	12	2787022	2787022	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:2787022G>A	ENST00000399655.1	+	41	5345	c.5080G>A	c.(5080-5082)Gac>Aac	p.D1694N	CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1700N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1722N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1735N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1702N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1694N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1719N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1702N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1713N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1713N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D1742N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1713N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1711N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1714N	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	1742					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)	TTCTGAAGATGACATCTTCAG	0.592000													32	73					0	0	0.003755	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500469	119500469	+	Silent	SNP	G	G	A	rs145284908		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:119500469G>A	ENST00000218008.3	+	2	210	c.153G>A	c.(151-153)tcG>tcA	p.S51S	ATP1B4_ENST00000361319.3_Silent_p.S51S|ATP1B4_ENST00000539306.1_Silent_p.S51S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	51	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGCCCAAATCggaggaggagg	0.542000													28	23					0	0	0.005443	0	0
DNAH9	1770	broad.mit.edu	37	17	11622780	11622780	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:11622780C>T	ENST00000262442.3	+	27	5750	c.5682C>T	c.(5680-5682)ttC>ttT	p.F1894F	DNAH9_ENST00000454412.2_Silent_p.F1894F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1894	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)		TCTATGTGTTCAACTGCTCGG	0.607000													16	66					0	0	0.004990	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269487	150269487	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:150269487C>T	ENST00000255945.2	+	3	504	c.329C>T	c.(328-330)aCc>aTc	p.T110I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.T124I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	110							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATTCTTCTGACCTCCCCAGGG	0.502000													23	72					0	0	0.004656	0	0
FAT3	120114	broad.mit.edu	37	11	92532555	92532555	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:92532555G>A	ENST00000298047.6	+	9	6393	c.6376G>A	c.(6376-6378)Gac>Aac	p.D2126N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1976N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2126N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2126	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGCAGGATGACTATGGCCA	0.428000										TCGA Ovarian(4;0.039)			159	476					0	0	0.003610	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066197	70066197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:70066197C>T	ENST00000446444.1	-	6	1559	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	517					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGCAAACTTCCAGAAACAAA	0.403000													25	64					0	0	0.006320	0	0
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:175897020C>T	ENST00000359240.3	+	5	1014	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ADAM29_ENST00000445694.1_Missense_Mutation_p.S115F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S115F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S115F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	115					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S115F(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCCTGGTTTCCCTCAGTACC	0.443000													19	63					0	0	0.002299	0	0
LIMK2	3985	broad.mit.edu	37	22	31656015	31656015	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:31656015C>T	ENST00000331728.4	+	5	617	c.503C>T	c.(502-504)tCc>tTc	p.S168F	LIMK2_ENST00000333611.4_Missense_Mutation_p.S147F|LIMK2_ENST00000340552.4_Missense_Mutation_p.S147F|LIMK2_ENST00000406516.1_Missense_Mutation_p.S90F|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	168	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTCTCCGTGTCCGTGGAGAGT	0.552000													23	82					0	0	0.006320	0	0
CCER1	196477	broad.mit.edu	37	12	91348192	91348192	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:91348192G>A	ENST00000358859.2	-	1	761	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCATACACCCGAAACACTTGC	0.647000													10	33					0	0	0.006214	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987719	154987719	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:154987719C>T	ENST00000368426.3	+	3	720	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R195W|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R195W|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R229W|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	195	Pro-rich.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCGCCACCTCGGCCTGTTGC	0.657000													20	70					0	0	0.007413	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782326	62782326	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62782326G>A	ENST00000336232.2	-	2	240	c.105C>T	c.(103-105)aaC>aaT	p.N35N	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Silent_p.N35N|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.N35N	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	35					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGCAGCAGGTTGTGGTTGG	0.617000													83	140					0	0	0.003610	0	0
CD59	966	broad.mit.edu	37	11	33743976	33743976	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:33743976C>T	ENST00000395850.3	-	2	91	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	CD59_ENST00000437761.2_Missense_Mutation_p.G6R|CD59_ENST00000351554.3_Missense_Mutation_p.G6R|CD59_ENST00000426650.2_Missense_Mutation_p.G6R|CD59_ENST00000445143.2_Missense_Mutation_p.G6R|CD59_ENST00000528700.1_Missense_Mutation_p.G6R|CD59_ENST00000527577.1_Missense_Mutation_p.G6R|CD59_ENST00000534312.1_Missense_Mutation_p.G6R|CD59_ENST00000533403.1_Missense_Mutation_p.G6R|CD59_ENST00000415002.2_Missense_Mutation_p.G6R	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	6					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						AGGACAGACCCTCCTTGGATT	0.522000													7	54					0	0	0.001984	0	0
NLRP14	338323	broad.mit.edu	37	11	7064407	7064407	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:7064407G>A	ENST00000299481.4	+	4	1496	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	384	NACHT.				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)		GCAGCAAATGGAGAAGGGTGG	0.468000													55	106					0	0	0.003610	0	0
HDAC4	9759	broad.mit.edu	37	2	240024505	240024505	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:240024505T>A	ENST00000345617.3	-	16	2976	c.2185A>T	c.(2185-2187)Aac>Tac	p.N729Y	HDAC4_ENST00000541256.1_Missense_Mutation_p.N703Y|HDAC4_ENST00000543185.1_Missense_Mutation_p.N313Y	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	729	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTCTGCCGGTTGAGGGGGTTC	0.562000													26	55					0	0	0.003330	0	0
OR2F2	135948	broad.mit.edu	37	7	143633213	143633213	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:143633213G>C	ENST00000408955.2	+	1	955	c.888G>C	c.(886-888)gaG>gaC	p.E296D		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GGAATAAAGAGGTGAAGGGGG	0.428000													21	61					0	0	0.001523	0	0
NXF3	56000	broad.mit.edu	37	X	102339406	102339406	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:102339406G>A	ENST00000395065.3	-	3	316	c.215C>T	c.(214-216)tCa>tTa	p.S72L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	72						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATTATAGGGTGAAATAGTATA	0.428000													47	33					0	0	0.003610	0	0
MRPL37	51253	broad.mit.edu	37	1	54681876	54681876	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:54681876C>T	ENST00000605337.1	+	6	1101	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V	MRPL37_ENST00000360840.5_Silent_p.V351V|MRPL37_ENST00000336230.6_Silent_p.V220V			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	351					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ATGGACGTGTCTTCCATTTCC	0.522000													45	115					0	0	0.003610	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457109	4457109	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:4457109G>A	ENST00000254718.4	-	5	863	c.557C>T	c.(556-558)tCc>tTc	p.S186F	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.S186F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	186	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCATACCTCGGAGAGGATGTC	0.587000													5	28					0	0	0.001168	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132422	42132422	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:42132422G>A	ENST00000382448.4	+	7	778	c.769G>A	c.(769-771)Gac>Aac	p.D257N	JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D26N|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.D26N|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D257N	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		26	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						ACCCTCTAAGGACCTAGGTGA	0.667000													18	62					0	0	0.006122	0	0
EXD3	54932	broad.mit.edu	37	9	140218287	140218287	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:140218287C>T	ENST00000340951.4	-	19	2269	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	EXD3_ENST00000342129.4_Missense_Mutation_p.G343R	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	692					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCAGCGCCCAGCCCCGACC	0.672000													16	15					0	0	0.003163	0	0
MARCO	8685	broad.mit.edu	37	2	119735507	119735507	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:119735507C>T	ENST00000541757.1	+	9	908	c.528C>T	c.(526-528)ctC>ctT	p.L176L	MARCO_ENST00000327097.4_Silent_p.L254L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	254	Collagen-like.				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						ACCTGGGTCTCCCAGGTGAGG	0.602000													4	15					0	0	0.000248	0	0
SLC9C1	285335	broad.mit.edu	37	3	111901021	111901021	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:111901021G>A	ENST00000305815.5	-	21	2860	c.2608C>T	c.(2608-2610)Ccg>Tcg	p.P870S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P822S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	870					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCTAGCCACGGAATATGATAT	0.259000													11	73					0	0	0.000978	0	0
SLX4	84464	broad.mit.edu	37	16	3639611	3639611	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:3639611G>A	ENST00000294008.3	-	12	4668	c.4028C>T	c.(4027-4029)cCt>cTt	p.P1343L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1343	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGGACGGGAAGGGCTTCTGTG	0.662000								Direct reversal of damage					34	125					0	0	0.003755	0	0
KNDC1	85442	broad.mit.edu	37	10	135025336	135025336	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:135025336C>T	ENST00000304613.3	+	23	4231	c.4210C>T	c.(4210-4212)Ctc>Ttc	p.L1404F	KNDC1_ENST00000368572.2_Missense_Mutation_p.L1406F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1404					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGTAAGAGGCTCTCAGAGGA	0.652000													7	34					0	0	0.001984	0	0
PIK3R6	146850	broad.mit.edu	37	17	8739899	8739899	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:8739899C>T	ENST00000311434.9	-	7	665	c.426G>A	c.(424-426)caG>caA	p.Q142Q	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	142					platelet activation	cytosol											TCGTCAAGTTCTGTTCGGCAA	0.507000													21	40					0	0	0.003330	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877207	144877207	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:144877207C>T	ENST00000369359.4	-	31	4926	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1630K|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1450K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1494K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1494K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1494	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCTCCCTTCTCGTATTTTT	0.428000			T	PDGFRB	MPD								21	123					0	0	0.004656	0	0
KRT5	3852	broad.mit.edu	37	12	52910933	52910933	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:52910933C>T	ENST00000252242.4	-	6	1566	c.1176G>A	c.(1174-1176)atG>atA	p.M392I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	392	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTCTGGATCATCCGGTTCA	0.522000													43	132					0	0	0.007835	0	0
THBS1	7057	broad.mit.edu	37	15	39874765	39874765	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:39874765C>T	ENST00000260356.5	+	3	604	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	147	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)	GGAAGAAGCTCTCCTGGCAAC	0.577000													16	23					0	0	0.006122	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768996	122768996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:122768996G>A	ENST00000194130.2	-	10	1075	c.1036C>T	c.(1036-1038)Caa>Taa	p.Q346*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	346						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.Q346K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAATTTCTTGATACCTGTGG	0.418000													5	15					0	0	0.000602	0	0
MAML2	84441	broad.mit.edu	37	11	95712443	95712443	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:95712443A>G	ENST00000524717.1	-	5	4424	c.3140T>C	c.(3139-3141)cTg>cCg	p.L1047P		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1047					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCTGAGATTCAGACCCCTGAG	0.498000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								15	37					0	0	0.004007	0	0
GSDMB	55876	broad.mit.edu	37	17	38068655	38068655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:38068655G>A	ENST00000394175.2	-	2	554	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q111*|GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q111*|GSDMB_ENST00000394179.1_Nonsense_Mutation_p.Q111*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q111*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q111*	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	111						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TGGAAGCCCTGGAAACTGCCT	0.453000													28	51					0	0	0.007291	0	0
OR5H14	403273	broad.mit.edu	37	3	97868569	97868569	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:97868569C>T	ENST00000437310.1	+	1	400	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L114F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAATGTTTTCTCTTGGCAAC	0.398000													38	167					0	0	0.005524	0	0
MAFK	7975	broad.mit.edu	37	7	1579891	1579891	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:1579891C>T	ENST00000343242.4	+	3	580	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	117					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		TGCAGACCTTCGCGCGCACCG	0.677000													8	15					0	0	0.004482	0	0
OR2J3	442186	broad.mit.edu	37	6	29079827	29079827	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:29079827C>T	ENST00000377169.1	+	1	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTGTCATACCTGGACTCCCA	0.438000													69	250					0	0	0.003610	0	0
ZAN	7455	broad.mit.edu	37	7	100333342	100333342	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100333342G>A	ENST00000542585.1	+	0	201				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGACCCCCAAGGAAAGAGAAG	0.468000													8	14					0	0	0.004482	0	0
PTPN22	26191	broad.mit.edu	37	1	114380974	114380974	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:114380974C>T	ENST00000359785.5	-	13	1183	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PTPN22_ENST00000528414.1_Missense_Mutation_p.E295K|PTPN22_ENST00000420377.2_Missense_Mutation_p.E350K|PTPN22_ENST00000538253.1_Missense_Mutation_p.E106K|PTPN22_ENST00000525799.1_Missense_Mutation_p.E223K|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	350					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GAAGAAGATTCTTTGATTTCC	0.368000													10	20					0	0	0.006214	0	0
ICAM2	3384	broad.mit.edu	37	17	62081054	62081054	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62081054C>T	ENST00000412356.1	-	5	953	c.599G>A	c.(598-600)gGt>gAt	p.G200D	ICAM2_ENST00000579788.1_Missense_Mutation_p.G200D|ICAM2_ENST00000578379.1_Missense_Mutation_p.G99D|ICAM2_ENST00000449662.2_Missense_Mutation_p.G200D|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Missense_Mutation_p.G200D|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.G200D|ICAM2_ENST00000578892.1_Missense_Mutation_p.G176D	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	200					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.G200D(1)		large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GATGTTGCCACCGCGAGACAT	0.567000													11	60					0	0	0.000978	0	0
ENPP6	133121	broad.mit.edu	37	4	185038147	185038147	+	Silent	SNP	C	C	T	rs144414378		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:185038147C>T	ENST00000296741.2	-	5	858	c.717G>A	c.(715-717)tcG>tcA	p.S239S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	239					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.S239S(1)		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)		TTCCGTGATCCGAGAAAATAA	0.532000													23	49					0	0	0.002780	0	0
ACAD10	80724	broad.mit.edu	37	12	112193538	112193538	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:112193538C>T	ENST00000455480.2	+	21	3298	c.3121C>T	c.(3121-3123)Cgt>Tgt	p.R1041C	RP11-162P23.2_ENST00000546840.2_Silent_p.I31I|ACAD10_ENST00000313698.4_Missense_Mutation_p.R1010C	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1010							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTGATTGATCGTGCGATTCA	0.507000													49	100					0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150041	117150041	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:117150041C>T	ENST00000310357.3	-	1	157	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E46K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E46K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	46					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AACATTTTTTCATGAATAGCA	0.433000													26	28					0	0	0.007291	0	0
CAMK2G	818	broad.mit.edu	37	10	75634172	75634172	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:75634172G>A	ENST00000423381.1	-	1	171	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CAMK2G_ENST00000322635.3_Silent_p.L16L|CAMK2G_ENST00000351293.3_Silent_p.L16L|CAMK2G_ENST00000394762.2_Silent_p.L16L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.L16L|CAMK2G_ENST00000305762.7_Silent_p.L16L|CAMK2G_ENST00000322680.3_Silent_p.L16L|CAMK2G_ENST00000444854.2_Silent_p.L16L	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	16	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					GCTCCTCGAAGAGCTGGTAGT	0.756000													15	23					0	0	0.004007	0	0
TG	7038	broad.mit.edu	37	8	134107327	134107327	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:134107327G>A	ENST00000220616.4	+	42	7319	c.7279G>A	c.(7279-7281)Gag>Aag	p.E2427K	TG_ENST00000519543.1_Missense_Mutation_p.E560K|SLA_ENST00000518565.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Missense_Mutation_p.E2370K|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Missense_Mutation_p.E797K|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2427					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CATCAGCCATGAGAGGGCTCA	0.602000													50	141					0	0	0.003610	0	0
FAM129A	116496	broad.mit.edu	37	1	184765070	184765070	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:184765070C>T	ENST00000367511.3	-	14	2021	c.1828G>A	c.(1828-1830)Ggt>Agt	p.G610S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	610					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTCTCACTACCCAGAACTCCT	0.547000													32	102					0	0	0.002445	0	0
CNTN4	152330	broad.mit.edu	37	3	3078995	3078995	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:3078995G>A	ENST00000397461.1	+	17	2459	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	CNTN4_ENST00000418658.1_Missense_Mutation_p.R692Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.R364Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.R692Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.R473Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.R364Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	692	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCAGAGAAACGGAGAACAGAA	0.522000													45	187					0	0	0.003610	0	0
TECPR1	25851	broad.mit.edu	37	7	97862948	97862948	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:97862948G>A	ENST00000447648.2	-	11	1756	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L	TECPR1_ENST00000542604.1_Missense_Mutation_p.P416L|TECPR1_ENST00000379795.3_Missense_Mutation_p.P486L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	486						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATTGGTCCAGGGCAGCTCGGC	0.682000													27	47					0	0	0.007291	0	0
MYCT1	80177	broad.mit.edu	37	6	153042931	153042931	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:153042931G>A	ENST00000367245.5	+	2	259	c.251G>A	c.(250-252)gGa>gAa	p.G84E	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	84						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GTACTTGGAGGATTTATTTGG	0.418000													28	53					0	0	0.005443	0	0
ANKH	56172	broad.mit.edu	37	5	14749414	14749414	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:14749414C>T	ENST00000284268.6	-	6	1019	c.687_splice	c.e6-1	p.G230_splice	ANKH_ENST00000535119.1_Splice_Site_p.G32_splice|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	230					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTTGCATCTCCCTGTGTTAA	0.408000													21	52					0	0	0.002780	0	0
ING2	3622	broad.mit.edu	37	4	184431571	184431571	+	Silent	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:184431571T>A	ENST00000302327.3	+	2	511	c.309T>A	c.(307-309)atT>atA	p.I103I	ING2_ENST00000434682.2_Silent_p.I63I	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	103					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAATACAGATTGTTACACAAA	0.388000													47	103					0	0	0.002852	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852064	38852064	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:38852064C>T	ENST00000310803.5	-	2	355	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	RASGRP1_ENST00000539159.1_Missense_Mutation_p.A12T|RASGRP1_ENST00000561180.1_Missense_Mutation_p.A111T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.A60T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000559830.1_Missense_Mutation_p.A60T	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	60	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCCAGGCTGGCTCCTTTGGCT	0.502000													19	27					0	0	0.002780	0	0
CR1L	1379	broad.mit.edu	37	1	207851610	207851610	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:207851610C>T	ENST00000508064.2	+	3	405	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	115	Sushi 2.					cytoplasm|extracellular region|membrane		p.F115F(1)|p.F123F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACATCCAGTTCAGATCCCAAA	0.408000													36	67					0	0	0.006230	0	0
PADI4	23569	broad.mit.edu	37	1	17681136	17681136	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:17681136G>A	ENST00000375448.4	+	11	1290	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	422					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)	CAGGGGCAAGGAATACCCGCT	0.572000													7	46					0	0	0.003080	0	0
OR5P3	120066	broad.mit.edu	37	11	7847259	7847259	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:7847259C>T	ENST00000328375.1	-	1	260	c.261G>A	c.(259-261)agG>agA	p.R87R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	87					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)		AGGTTTCTTTCCTTAGGAAGC	0.507000													15	67					0	0	0.003163	0	0
NUMA1	4926	broad.mit.edu	37	11	71724032	71724032	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:71724032T>C	ENST00000393695.3	-	15	4848	c.4517A>G	c.(4516-4518)gAg>gGg	p.E1506G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1506G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1506					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGTCATCACCTCCAGCTCCCG	0.592000			T	RARA	APL								24	40					0	0	0.003954	0	0
LRRC66	339977	broad.mit.edu	37	4	52861191	52861191	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:52861191G>A	ENST00000343457.3	-	4	2003	c.1997C>T	c.(1996-1998)cCa>cTa	p.P666L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	666						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AAAGACTGATGGGCCTGTGTC	0.557000													24	73					0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34006190	34006190	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34006190G>A	ENST00000373381.4	-	60	9742	c.9566C>T	c.(9565-9567)tCc>tTc	p.S3189F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3165	Sushi 26.					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)				CGCGGGCAGGGAGAGCTGGTA	0.587000													27	70					0	0	0.006320	0	0
COL14A1	7373	broad.mit.edu	37	8	121259858	121259858	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:121259858C>T	ENST00000297848.3	+	21	2756	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S734F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S829F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	829	Fibronectin type-III 7.				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)			TCAGTACCATCCTCGGGGCCC	0.473000													21	34					0	0	0.002299	0	0
CCAR2	57805	broad.mit.edu	37	8	22470634	22470634	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:22470634C>T	ENST00000308511.4	+	8	938	c.689C>T	c.(688-690)cCt>cTt	p.P230L	KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Missense_Mutation_p.P230L			Q8N163	K1967_HUMAN		230					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CACCTCACTCCTTACACTGTG	0.542000													17	40					0	0	0.004007	0	0
MYH13	8735	broad.mit.edu	37	17	10223547	10223547	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:10223547G>A	ENST00000418404.3	-	25	3434	c.3271C>T	c.(3271-3273)Ctc>Ttc	p.L1091F	MYH13_ENST00000570743.1_Missense_Mutation_p.L1091F|MYH13_ENST00000252172.4_Missense_Mutation_p.L1091F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1091					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTGACTGAGTTCAAACTCC	0.378000													8	14					0	0	0.006214	0	0
MARCH1	55016	broad.mit.edu	37	4	164534484	164534484	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:164534484G>A	ENST00000503008.1	-	5	1200	c.224C>T	c.(223-225)tCc>tTc	p.S75F	MARCH1_ENST00000514618.1_Missense_Mutation_p.S75F|MARCH1_ENST00000339875.5_Missense_Mutation_p.S58F|MARCH1_ENST00000274056.7_Missense_Mutation_p.S75F	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	75					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCCTGAGTGGATGGACAGAC	0.423000													29	70					0	0	0.003271	0	0
TRPC6	7225	broad.mit.edu	37	11	101353770	101353770	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:101353770C>T	ENST00000344327.3	-	5	1844	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E358K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E419K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E474K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	474					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTGCTGGTTTCATTAGGAAGG	0.433000													29	66					0	0	0.006320	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958096	119958096	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:119958096C>T	ENST00000543831.1	+	2	303	c.54C>T	c.(52-54)atC>atT	p.I18I	HSD3B2_ENST00000369416.3_Silent_p.I18I|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	18					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTCAGAGGATCGTCCGCCTGT	0.512000													33	67					0	0	0.002096	0	0
ARMC12	221481	broad.mit.edu	37	6	35716394	35716394	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:35716394G>A	ENST00000373866.3	+	6	792	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ARMC12_ENST00000373869.3_Missense_Mutation_p.R247Q|ARMC12_ENST00000288065.2_Missense_Mutation_p.R284Q			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	257							binding										TTTGCTGAGCGGCTGAGTGAG	0.537000													25	76					0	0	0.003954	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708634	60708634	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:60708634C>T	ENST00000227880.3	-	5	1469	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	412					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						ACATCCCCAGCGCCATCTTCT	0.572000													5	15					0	0	0.001168	0	0
ADD2	119	broad.mit.edu	37	2	70923506	70923506	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:70923506G>A	ENST00000264436.3	-	5	789	c.345C>T	c.(343-345)atC>atT	p.I115I	ADD2_ENST00000413157.2_Silent_p.I115I|ADD2_ENST00000407644.2_Silent_p.I115I|ADD2_ENST00000430656.1_Silent_p.I131I|ADD2_ENST00000355733.3_Silent_p.I115I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	115					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGAGGTCATTGATAGGCGTCA	0.572000													14	29					0	0	0.004007	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988322	103988322	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:103988322C>T	ENST00000370005.3	+	3	603	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	128					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GGTCATAGAACTCGGTGAGTG	0.512000													40	67					0	0	0.003610	0	0
LRRC58	116064	broad.mit.edu	37	3	120054784	120054784	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:120054784G>A	ENST00000295628.3	-	2	612	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	173										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TTTCCTCCAAGATATAAACAC	0.313000													9	42					0	0	0.004482	0	0
GABRA3	2556	broad.mit.edu	37	X	151514098	151514098	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:151514098G>A	ENST00000370314.4	-	3	455	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GABRA3_ENST00000370311.1_Missense_Mutation_p.R73C|GABRA3_ENST00000535043.1_Missense_Mutation_p.R73C	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCAGAAGACGATCCAAGATT	0.473000													31	18					0	0	0.002445	0	0
ANXA6	309	broad.mit.edu	37	5	150512090	150512090	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:150512090G>A	ENST00000354546.5	-	10	910	c.683C>T	c.(682-684)gCc>gTc	p.A228V	ANXA6_ENST00000523714.1_Missense_Mutation_p.A196V|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.A228V|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	228						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGGATGCTGGCTTCAATCGG	0.542000													11	14					0	0	0.002450	0	0
PMS1	5378	broad.mit.edu	37	2	190719571	190719571	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:190719571C>T	ENST00000441310.2	+	9	1806	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	PMS1_ENST00000409823.3_Missense_Mutation_p.P486S|PMS1_ENST00000432292.3_Missense_Mutation_p.P349S|PMS1_ENST00000418224.3_Missense_Mutation_p.P349S|PMS1_ENST00000447232.2_Missense_Mutation_p.P525S|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	525					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AAAAAGTTTACCATGTAAAGT	0.299000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					14	47					0	0	0.006122	0	0
KCNQ5	56479	broad.mit.edu	37	6	73902301	73902301	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:73902301C>T	ENST00000342056.2	+	14	2178	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	KCNQ5_ENST00000414165.2_Missense_Mutation_p.L465F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L566F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L585F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L575F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L576F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L575F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	575					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L575V(1)		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)		TGATCAAATTCTTGGAAAAGG	0.418000													36	65					0	0	0.005524	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026970	7026970	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:7026970G>A	ENST00000409757.4	+	13	2121	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	TBC1D14_ENST00000410031.1_Missense_Mutation_p.R438Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R666Q|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R386Q|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R313Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	666						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ATGCAGAGCCGAAACAAGAAG	0.607000													11	37					0	0	0.000978	0	0
SPRY1	10252	broad.mit.edu	37	4	124323479	124323479	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:124323479C>T	ENST00000394339.2	+	2	1073	c.733C>T	c.(733-735)Cct>Tct	p.P245S	SPRY1_ENST00000339241.1_Missense_Mutation_p.P245S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	245	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCAGATAATCCTTGCTCCTG	0.458000													58	116					0	0	0.003610	0	0
PPEF2	5470	broad.mit.edu	37	4	76785644	76785644	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:76785644T>C	ENST00000286719.7	-	16	2313	c.1957A>G	c.(1957-1959)Aac>Gac	p.N653D		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	653	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGATCGGTTTCGATACAAT	0.328000													20	64					0	0	0.002299	0	0
CD34	947	broad.mit.edu	37	1	208061248	208061248	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:208061248C>T	ENST00000310833.7	-	8	1314	c.993G>A	c.(991-993)acG>acA	p.T331T	CD34_ENST00000537704.1_Silent_p.T196T|CD34_ENST00000485761.1_Intron|CD34_ENST00000367036.3_Silent_p.T173T|CD34_ENST00000356522.4_3'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	331					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CACCGTTTTCCGTGTAATAAG	0.557000													7	25					0	0	0.003080	0	0
ECE1	1889	broad.mit.edu	37	1	21551784	21551784	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:21551784C>T	ENST00000415912.2	-	17	2076	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	ECE1_ENST00000436918.2_Missense_Mutation_p.E667K|ECE1_ENST00000374893.6_Missense_Mutation_p.E667K|ECE1_ENST00000357071.4_Missense_Mutation_p.E655K|ECE1_ENST00000264205.6_Missense_Mutation_p.E664K	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	667					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCGATGTTCTCCCCCAGGGTG	0.652000													25	50					0	0	0.005443	0	0
MPPED1	758	broad.mit.edu	37	22	43821049	43821049	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:43821049C>T	ENST00000417669.1	+	2	502	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	MPPED1_ENST00000542779.1_Missense_Mutation_p.P20S|MPPED1_ENST00000443721.1_Missense_Mutation_p.P20S|MPPED1_ENST00000538182.1_Missense_Mutation_p.P53S|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	20							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGCCCTCCTCCCCTGCGGCCT	0.701000													9	22					0	0	0.004482	0	0
FANCD2	2177	broad.mit.edu	37	3	10089610	10089610	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:10089610G>A	ENST00000287647.3	+	16	1381	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	FANCD2_ENST00000383806.1_Missense_Mutation_p.D430N|FANCD2_ENST00000383807.1_Missense_Mutation_p.D430N|FANCD2_ENST00000419585.1_Missense_Mutation_p.D430N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	430					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GGTTCTTAAGGATATGTGTTC	0.398000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	313					0	0	0.002222	0	0
COL6A5	256076	broad.mit.edu	37	3	130095535	130095535	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:130095535G>A	ENST00000265379.6	+	3	1017	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E175K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	175	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCTTCTGAGGAAAATCTGAA	0.493000													3	14					0	0	0.004672	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551693	1551693	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:1551693C>T	ENST00000381605.4	-	4	906	c.842G>A	c.(841-843)gGa>gAa	p.G281E	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	281	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGCTGTAGTCCCCGGGGGTA	0.542000													19	57					0	0	0.007413	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862679	84862679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:84862679G>A	ENST00000403245.3	-	23	3328	c.3214C>T	c.(3214-3216)Cag>Tag	p.Q1072*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.Q996*	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1072					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTATAGACTGAAAATCTTCA	0.363000													19	107					0	0	0.008871	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315215	120315215	+	Silent	SNP	C	C	T	rs139409401	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:120315215C>T	ENST00000485064.1	+	1	41	c.9C>T	c.(7-9)ttC>ttT	p.F3F	NDUFB4_ENST00000492739.1_Silent_p.F3F|NDUFB4_ENST00000184266.2_Silent_p.F3F	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	3					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AGATGTCGTTCCCAAAGTATA	0.597000													8	26					0	0	0.000978	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236503	140236503	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140236503G>A	ENST00000307360.5	+	1	870	c.870G>A	c.(868-870)agG>agA	p.R290R	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.R290R|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAAGAAGGAAATTTTGGA	0.353000													20	45					0	0	0.001523	0	0
ITGB3	3690	broad.mit.edu	37	17	45369775	45369775	+	Missense_Mutation	SNP	G	G	A	rs150951945		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:45369775G>A	ENST00000559488.1	+	10	1547	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	ITGB3_ENST00000560629.1_Missense_Mutation_p.R499Q|ITGB3_ENST00000435993.2_Missense_Mutation_p.E464K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	511	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCAGCAGGACGAATGCAGCCC	0.627000													14	79					0	0	0.002450	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789889	30789889	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:30789889G>A	ENST00000246229.4	-	2	357	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	31						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGCCTCCCGGCCCCGAGGCC	0.572000													23	65					0	0	0.003954	0	0
HPSE	10855	broad.mit.edu	37	4	84230557	84230557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:84230557G>A	ENST00000405413.2	-	8	1118	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	HPSE_ENST00000512196.1_Nonsense_Mutation_p.Q328*|HPSE_ENST00000513463.1_Nonsense_Mutation_p.Q270*|HPSE_ENST00000311412.5_Nonsense_Mutation_p.Q328*	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	328					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACTATTACCTGGAAAACTTTT	0.289000													6	38					0	0	0.001984	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602019	58602019	+	Silent	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:58602019A>G	ENST00000287275.1	-	6	1158	c.768T>C	c.(766-768)ttT>ttC	p.F256F	GLYATL2_ENST00000532258.1_Silent_p.F256F	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	256						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)	CATGGAAATAAAATGGGATTT	0.398000													20	43					0	0	0.001882	0	0
CMTM6	54918	broad.mit.edu	37	3	32529466	32529466	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:32529466G>A	ENST00000205636.3	-	3	1040	c.378C>T	c.(376-378)tcC>tcT	p.S126S		NM_017801.2	NP_060271.1	Q9NX76	CKLF6_HUMAN	CKLF-like MARVEL transmembrane domain containing 6	126	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)	2						TGTCATGTGTGGAAACAAAAA	0.328000													12	26					0	0	0.001855	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570479	22570479	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:22570479G>A	ENST00000510882.2	+	1	685	c.675G>A	c.(673-675)cgG>cgA	p.R225R	HDGFL1_ENST00000230012.3_Silent_p.R225R			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	225	Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					AGGAGCTCCGGGAGGAAGAAG	0.682000													14	12					0	0	0.004990	0	0
APLP2	334	broad.mit.edu	37	11	130011963	130011963	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:130011963C>T	ENST00000263574.5	+	17	2256	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	APLP2_ENST00000338167.5_Silent_p.I716I|APLP2_ENST00000539648.1_Silent_p.I516I|APLP2_ENST00000528499.1_Silent_p.I660I|APLP2_ENST00000543137.1_Silent_p.I623I|APLP2_ENST00000278756.7_Silent_p.I726I|APLP2_ENST00000345598.5_Silent_p.I487I	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	728					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GCCACGGGATCGTGGAGGTGA	0.592000													12	19					0	0	0.001368	0	0
LRIF1	55791	broad.mit.edu	37	1	111490704	111490704	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:111490704G>A	ENST00000369763.4	-	4	2577	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	LRIF1_ENST00000485275.2_Silent_p.F193F|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Silent_p.F193F	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.F729F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGTCACTGGGAAAATATCTT	0.368000													57	129					0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49670785	49670785	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:49670785G>A	ENST00000561648.1	-	4	2331	c.2278C>T	c.(2278-2280)Cgc>Tgc	p.R760C	ZNF423_ENST00000567169.1_Missense_Mutation_p.R643C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R700C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R643C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R700C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R760C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R700C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	760					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R760C(4)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCTCCTTGCGGAAGTCCCAG	0.597000													15	27					0	0	0.002450	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705387	41705387	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:41705387G>A	ENST00000379485.1	-	1	1495	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R355C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	421							protein binding	p.R421C(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACAGCAAGCGATCTGCAAGT	0.488000													40	92					0	0	0.007835	0	0
SCN2A	6326	broad.mit.edu	37	2	166246326	166246326	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:166246326A>G	ENST00000357398.3	+	27	6300	c.6010A>G	c.(6010-6012)Aaa>Gaa	p.K2004E	SCN2A_ENST00000375427.2_Missense_Mutation_p.K2004E|SCN2A_ENST00000375437.2_Missense_Mutation_p.K2004E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K2004E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	2004					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CAGGGAAAGTAAAAAGTAAAA	0.378000													10	18					0	0	0.006214	0	0
PPP6C	5537	broad.mit.edu	37	9	127912061	127912061	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:127912061G>A	ENST00000451402.1	-	8	1140	c.920C>T	c.(919-921)tCg>tTg	p.S307L	PPP6C_ENST00000373546.3_Missense_Mutation_p.S123L|PPP6C_ENST00000373547.4_Missense_Mutation_p.S270L|PPP6C_ENST00000415905.1_Missense_Mutation_p.S248L	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	270					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.S270L(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GACCATGATCGAAGCAATATT	0.408000													19	18					0	0	0.006122	0	0
EPHA4	2043	broad.mit.edu	37	2	222294835	222294835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:222294835G>A	ENST00000281821.2	-	15	2574	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	EPHA4_ENST00000409938.1_Missense_Mutation_p.P845S|EPHA4_ENST00000392071.4_Missense_Mutation_p.P794S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P845S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	845	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCCATTGGAGGGGGTAACCGA	0.512000													24	92					0	0	0.003954	0	0
PDZD8	118987	broad.mit.edu	37	10	119049715	119049715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:119049715G>A	ENST00000334464.5	-	4	1482	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	415	PDZ.				intracellular signal transduction		metal ion binding	p.R415*(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCGATAAGTCGATCTCCCCGC	0.428000													25	69					0	0	0.004656	0	0
PRAM1	84106	broad.mit.edu	37	19	8563167	8563167	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:8563167C>T	ENST00000423345.4	-	3	1959	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.R480Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	528	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCGGGTCCTCCGTAGATCTGT	0.677000													15	14					0	0	0.007413	0	0
ITGA11	22801	broad.mit.edu	37	15	68600027	68600027	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:68600027C>T	ENST00000423218.2	-	27	3280	c.3185G>A	c.(3184-3186)aGc>aAc	p.S1062N	ITGA11_ENST00000315757.7_Missense_Mutation_p.S1061N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1061					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATCAGAGTTGCTGTGATTCTG	0.542000													8	21					0	0	0.004482	0	0
GNAS	2778	broad.mit.edu	37	20	57429248	57429248	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:57429248G>A	ENST00000371100.4	+	1	1480	c.928G>A	c.(928-930)Gag>Aag	p.E310K	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.E310K|GNAS_ENST00000371102.4_Missense_Mutation_p.E310K|GNAS_ENST00000306120.3_Silent_p.S246S|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACCCCCGTTCGAGATTGGCAG	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			12	27					0	0	0.003163	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307278	39307278	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:39307278G>A	ENST00000541347.1	-	2	962	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CX3CR1_ENST00000358309.3_Silent_p.F273F|CX3CR1_ENST00000542107.1_Silent_p.F241F|CX3CR1_ENST00000399220.2_Silent_p.F241F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	241					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)		TCCAGAAGAGGAAAAACACGA	0.458000													45	80					0	0	0.002222	0	0
NPR3	4883	broad.mit.edu	37	5	32738972	32738972	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:32738972G>A	ENST00000265074.8	+	3	1238	c.895G>A	c.(895-897)Gat>Aat	p.D299N	NPR3_ENST00000415685.2_Missense_Mutation_p.D83N|NPR3_ENST00000434067.2_Missense_Mutation_p.D83N|NPR3_ENST00000415167.2_Missense_Mutation_p.D299N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	299					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458000													19	100					0	0	0.008871	0	0
USP6	9098	broad.mit.edu	37	17	5048705	5048705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:5048705G>A	ENST00000574788.1	+	27	4228	c.1998G>A	c.(1996-1998)tgG>tgA	p.W666*	USP6_ENST00000332776.4_Nonsense_Mutation_p.W666*|USP6_ENST00000304328.5_Nonsense_Mutation_p.W349*|USP6_ENST00000250066.6_Nonsense_Mutation_p.W666*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	666					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTAGGCCTGGGACAACCATC	0.343000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								8	37					0	0	0.006214	0	0
WIF1	11197	broad.mit.edu	37	12	65460471	65460471	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:65460471G>A	ENST00000286574.4	-	6	1054	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	227	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCAGAAACCAGGAGTCACACA	0.408000			T	HMGA2	pleomorphic salivary gland adenoma								12	46					0	0	0.001368	0	0
OR4K14	122740	broad.mit.edu	37	14	20483095	20483095	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:20483095G>A	ENST00000305045.2	-	1	257	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATCACTAAGGAAATCCCTGA	0.507000													19	38					0	0	0.008871	0	0
PDIA4	9601	broad.mit.edu	37	7	148701135	148701135	+	Silent	SNP	G	G	A	rs145077850	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:148701135G>A	ENST00000286091.4	-	10	1921	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	563	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582000													45	103					0	0	0.003610	0	0
BPTF	2186	broad.mit.edu	37	17	65908241	65908241	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:65908241C>T	ENST00000321892.4	+	13	4680	c.4619C>T	c.(4618-4620)cCc>cTc	p.P1540L	BPTF_ENST00000335221.5_Missense_Mutation_p.P1540L|BPTF_ENST00000424123.3_Missense_Mutation_p.P1401L|BPTF_ENST00000306378.6_Missense_Mutation_p.P1414L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1540					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATAATAAACCCAAAATATAT	0.274000													12	71					0	0	0.001855	0	0
MYO5C	55930	broad.mit.edu	37	15	52517715	52517715	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:52517715G>A	ENST00000261839.7	-	26	3383	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1074						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTTTTTCGAACTCAGAGA	0.368000													39	90					0	0	0.002222	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021494	27021494	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:27021494G>A	ENST00000354760.3	+	4	243	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	70	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTACATTCTGGAACGAGGCGA	0.627000													56	185					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237774194	237774194	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:237774194G>A	ENST00000366574.2	+	36	5133	c.4816G>A	c.(4816-4818)Gta>Ata	p.V1606I	RYR2_ENST00000542537.1_Missense_Mutation_p.V1590I|RYR2_ENST00000360064.6_Missense_Mutation_p.V1604I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1606	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTTTGAAGGTAGATGTGTC	0.547000													8	16					0	0	0.003080	0	0
ATXN2	6311	broad.mit.edu	37	12	111951327	111951327	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:111951327G>A	ENST00000377617.3	-	11	2033	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	ATXN2_ENST00000550104.1_Silent_p.S624S|ATXN2_ENST00000542287.2_Silent_p.S359S|ATXN2_ENST00000535949.1_Silent_p.S335S|ATXN2_ENST00000389153.4_Silent_p.S359S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	624	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGGCCTTTGGGGACATCCTTG	0.463000													12	26					0	0	0.001855	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390367	38390367	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:38390367G>A	ENST00000329553.2	+	4	643	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AGGTCGGCAGGAAAATGGCCC	0.632000													14	25					0	0	0.001855	0	0
C1orf87	127795	broad.mit.edu	37	1	60499191	60499191	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:60499191C>T	ENST00000371201.3	-	7	1093	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	329							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATCTTCTTTTCGAAAACTCAG	0.443000													21	68					0	0	0.002780	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147478	26147478	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:26147478G>A	ENST00000331351.5	+	2	1672	c.1280G>A	c.(1279-1281)aGa>aAa	p.R427K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	427					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTCATCCACAGACTGAGGAAA	0.473000													12	20					0	0	0.000978	0	0
RFX3	5991	broad.mit.edu	37	9	3293183	3293183	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:3293183G>A	ENST00000382004.3	-	7	936	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	RFX3_ENST00000358730.2_Missense_Mutation_p.L209F|RFX3_ENST00000302303.1_Missense_Mutation_p.L209F	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	209					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CAGTGTCGAAGGTAGTGGTTG	0.448000													35	40					0	0	0.003755	0	0
MMP25	64386	broad.mit.edu	37	16	3108256	3108256	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:3108256G>A	ENST00000336577.4	+	8	1318	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	361	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCGCTTCTGGGAGGGGCTGCC	0.726000													14	36					0	0	0.004007	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:141708471G>A	ENST00000475668.2	+	3	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000													19	59					0	0	0.003330	0	0
FAM114A1	92689	broad.mit.edu	37	4	38933112	38933112	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:38933112C>T	ENST00000358869.2	+	11	1378	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I	FAM114A1_ENST00000515037.1_Missense_Mutation_p.T194I	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	401						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGATCAAACCGTGGTGTCA	0.448000													20	46					0	0	0.001882	0	0
POGZ	23126	broad.mit.edu	37	1	151384265	151384265	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:151384265G>A	ENST00000491586.1	-	11	1658	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	POGZ_ENST00000531094.1_Intron|POGZ_ENST00000392723.1_Intron|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Intron|POGZ_ENST00000271715.2_Intron|POGZ_ENST00000361398.3_Intron|POGZ_ENST00000368863.2_Intron			Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	593					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.P544S(2)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACATAGGAGGGAAAATAAGGC	0.378000													6	37					0	0	0.001168	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972609	92972609	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:92972609T>A	ENST00000523629.1	-	12	2130	c.1676A>T	c.(1675-1677)cAg>cTg	p.Q559L	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Q522L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Q522L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Q570L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Q532L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Q532L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Q522L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Q559L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	559					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTCCCTGCTGCTGGGCCTG	0.607000													13	38					0	0	0.001368	0	0
TENM3	55714	broad.mit.edu	37	4	183635324	183635324	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:183635324G>A	ENST00000511685.1	+	13	2429	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	TENM3_ENST00000406950.2_Missense_Mutation_p.R769K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CCTGGATGGAGAGGAGCAGGC	0.507000													19	56					0	0	0.001523	0	0
LRR1	122769	broad.mit.edu	37	14	50074628	50074628	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:50074628C>T	ENST00000298288.6	+	3	1117	c.793C>T	c.(793-795)Cct>Tct	p.P265S	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	265										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATTCAATTTCCTTGCAAGAT	0.373000													16	43					0	0	0.003163	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958926	51958926	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:51958926C>T	ENST00000321424.3	-	4	863	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G157E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G173E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	266	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGCCATTTCCCAGGGCTGT	0.532000													20	38					0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:13769624C>T	ENST00000265104.4	-	57	9810	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3236	Stalk (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)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome				38	81					0	0	0.002222	0	0
FATE1	89885	broad.mit.edu	37	X	150889904	150889904	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:150889904C>T	ENST00000370350.3	+	3	357	c.272C>T	c.(271-273)tCa>tTa	p.S91L		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	91						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGAGAATCAGGCCATGGG	0.542000													22	28					0	0	0.004656	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552091	57552091	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:57552091C>T	ENST00000258214.2	-	6	1383	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	379										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CGACCTGTGCCCGCAGCTTCT	0.701000													65	121					0	0	0.003610	0	0
MRAS	22808	broad.mit.edu	37	3	138116269	138116269	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:138116269C>T	ENST00000289104.4	+	3	944	c.297C>T	c.(295-297)agC>agT	p.S99S	MRAS_ENST00000474559.1_Silent_p.S99S|MRAS_ENST00000423968.2_Silent_p.S99S|MRAS_ENST00000464896.1_Silent_p.S23S	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	99					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACAAGGCCAGCTTTGAGCACG	0.592000													135	249					0	0	0.003610	0	0
TBCK	93627	broad.mit.edu	37	4	107230030	107230030	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:107230030G>A	ENST00000273980.4	-	3	535	c.88C>T	c.(88-90)Cct>Tct	p.P30S	TBCK_ENST00000432496.2_Missense_Mutation_p.P30S|TBCK_ENST00000394706.3_Missense_Mutation_p.P30S|TBCK_ENST00000361687.4_Missense_Mutation_p.P30S|TBCK_ENST00000394708.2_Missense_Mutation_p.P30S			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	30	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGTGTGAGAGGAAGTCCATTG	0.453000													23	57					0	0	0.002780	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310611	117310611	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:117310611G>A	ENST00000321322.6	-	22	4085	c.4084C>T	c.(4084-4086)Cct>Tct	p.P1362S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1092S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1302	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCATCCAAGGTGTTGTCACG	0.567000													50	97					0	0	0.003610	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747383	62747383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62747383C>T	ENST00000377871.3	-	7	1341	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC22A6_ENST00000421062.2_Missense_Mutation_p.D359N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.D359N|SLC22A6_ENST00000458333.2_Missense_Mutation_p.D359N|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	359					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCTGCAGGTCCATGACCAGC	0.507000													9	48					0	0	0.001368	0	0
ARSH	347527	broad.mit.edu	37	X	2951252	2951252	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:2951252C>T	ENST00000381130.2	+	9	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	505						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATTTGACTCCGTGATCAAAA	0.488000													13	7					0	0	0.001855	0	0
FLT3	2322	broad.mit.edu	37	13	28589742	28589742	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:28589742C>T	ENST00000380982.4	-	21	2728	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	FLT3_ENST00000241453.7_Missense_Mutation_p.E880K|FLT3_ENST00000537084.1_Missense_Mutation_p.E839K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	880	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGAAGATTTCCCACAGTAAT	0.547000			"""Mis, O"""		"""AML, ALL"""								30	92					0	0	0.008361	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560075	10560075	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:10560075C>T	ENST00000381765.3	+	4	718	c.192C>T	c.(190-192)ttC>ttT	p.F64F	HPCAL1_ENST00000307845.3_Silent_p.F64F	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	64	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CTTCCAAGTTCGCCGAGCACG	0.617000													18	31					0	0	0.006122	0	0
INPP5B	3633	broad.mit.edu	37	1	38331520	38331520	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:38331520G>A	ENST00000373023.2	-	22	2760	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	INPP5B_ENST00000373027.1_Silent_p.F645F|INPP5B_ENST00000373024.3_Silent_p.F809F|INPP5B_ENST00000373026.1_Silent_p.F889F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	889	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCTCTCCAGGAAAAGCAGCA	0.507000													20	58					0	0	0.001523	0	0
SCARA5	286133	broad.mit.edu	37	8	27737264	27737264	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:27737264C>T	ENST00000354914.3	-	8	1658	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	SCARA5_ENST00000380385.2_Missense_Mutation_p.M166I	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	391					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGCGGATCATCATCGGGGCCT	0.652000													13	45					0	0	0.002450	0	0
FNBP1L	54874	broad.mit.edu	37	1	94016545	94016545	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:94016545C>T	ENST00000260506.8	+	14	1670	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	FNBP1L_ENST00000271234.7_Missense_Mutation_p.L565F|FNBP1L_ENST00000604705.1_Missense_Mutation_p.L565F|FNBP1L_ENST00000370253.2_Missense_Mutation_p.L507F|FNBP1L_ENST00000370256.4_Missense_Mutation_p.L560F	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	565	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGTGAAGTTCTCTACATTAT	0.388000													7	18					0	0	0.003080	0	0
MYO5C	55930	broad.mit.edu	37	15	52497174	52497174	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:52497174C>T	ENST00000261839.7	-	38	4869	c.4708G>A	c.(4708-4710)Gag>Aag	p.E1570K	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1570	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCACAAGCTCGGGGTCCAGG	0.582000													22	46					0	0	0.001523	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984580	140984580	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:140984580C>T	ENST00000544766.1	+	5	669	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.H48Y|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000536088.1_Missense_Mutation_p.H48Y	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	442										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ttcctctttccactttttatt	0.502000													17	8					0	0	0.004007	0	0
DNAH3	55567	broad.mit.edu	37	16	21136654	21136654	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:21136654T>G	ENST00000261383.3	-	9	1245	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.K416Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	416	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGTGCTCCTTCCGTGAGGTA	0.507000													12	92					0	0	0.001855	0	0
OR1G1	8390	broad.mit.edu	37	17	3030147	3030147	+	Silent	SNP	C	C	T	rs146714964	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:3030147C>T	ENST00000328890.2	-	1	728	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CTTTCCGCTTCCCCTGAGCTG	0.488000													13	43					0	0	0.001855	0	0
ABCC8	6833	broad.mit.edu	37	11	17418836	17418836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:17418836C>T	ENST00000302539.4	-	32	4020	c.3895G>A	c.(3895-3897)Gtg>Atg	p.V1299M	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1298M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1298	ABC transmembrane type-1 2.				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)	AGGTTCCTCACCATCCAGTTG	0.587000													46	114					0	0	0.003610	0	0
COL11A2	1302	broad.mit.edu	37	6	33156871	33156871	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33156871G>A	ENST00000341947.2	-	3	554	c.327C>T	c.(325-327)gtC>gtT	p.V109V	COL11A2_ENST00000374708.4_Silent_p.V109V|COL11A2_ENST00000395194.1_Silent_p.V109V|COL11A2_ENST00000357486.1_Silent_p.V109V|COL11A2_ENST00000374714.1_Silent_p.V109V|COL11A2_ENST00000395197.1_Silent_p.V109V|COL11A2_ENST00000374713.1_Silent_p.V109V|COL11A2_ENST00000374712.1_Silent_p.V109V|COL11A2_ENST00000361917.1_Silent_p.V109V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	109	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGCTGTCGGACACCCTGGG	0.607000													29	122					0	0	0.002096	0	0
NSD1	64324	broad.mit.edu	37	5	176638795	176638795	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:176638795G>A	ENST00000439151.2	+	5	3440	c.3395G>A	c.(3394-3396)gGa>gAa	p.G1132E	NSD1_ENST00000361032.4_Missense_Mutation_p.G1029E|NSD1_ENST00000347982.4_Missense_Mutation_p.G863E|NSD1_ENST00000354179.4_Missense_Mutation_p.G863E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1132					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGAAAACGGAAAAGGCCCA	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	35					0	0	0.000602	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996195	143996195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:143996195C>T	ENST00000323110.2	-	4	727	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	242					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGACAGGCTCCTGGGCATGAA	0.612000									Familial Hyperaldosteronism type I				6	28					0	0	0.001168	0	0
OR10S1	219873	broad.mit.edu	37	11	123848078	123848078	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:123848078G>A	ENST00000531945.1	-	1	410	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCCCTCAAAGGAGATCACCT	0.542000													10	24					0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82784281	82784281	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:82784281C>T	ENST00000423517.2	-	2	2013	c.1676G>A	c.(1675-1677)aGc>aAc	p.S559N	PCLO_ENST00000333891.8_Missense_Mutation_p.S559N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	505	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGTTTGGCTTACTGGTTT	0.517000													149	341					0	0	0.003610	0	0
ABLIM1	3983	broad.mit.edu	37	10	116225525	116225525	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:116225525G>A	ENST00000533213.2	-	12	1494	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ABLIM1_ENST00000392952.3_Missense_Mutation_p.S170F|ABLIM1_ENST00000277895.5_Missense_Mutation_p.S458F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S170F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S398F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S116F			O14639	ABLM1_HUMAN	actin binding LIM protein 1	458					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTACACAGGGGAGTTGATGGA	0.547000													30	134					0	0	0.001786	0	0
SLC25A6	293	broad.mit.edu	37	X	1506175	1506175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:1506175C>T	ENST00000381401.5	-	3	1450	c.736G>A	c.(736-738)Gga>Aga	p.G246R		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	246					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CGAGTACCTCCTTTGCGCCCG	0.672000													41	97					0	0	0.003610	0	0
DPY19L4	286148	broad.mit.edu	37	8	95782750	95782750	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:95782750C>T	ENST00000414645.2	+	13	1504	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	469						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATAATTTATCATGTAATTCA	0.323000													100	283					0	0	0.003610	0	0
MAP7	9053	broad.mit.edu	37	6	136686891	136686891	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:136686891C>T	ENST00000354570.3	-	10	1665	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	MAP7_ENST00000544465.1_Missense_Mutation_p.E404K|MAP7_ENST00000438100.2_Missense_Mutation_p.E404K|MAP7_ENST00000454590.1_Missense_Mutation_p.E441K|MAP7_ENST00000432797.2_Missense_Mutation_p.E273K	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	419	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ACTTCTGGTTCAGCAGGTGTC	0.478000													28	36					0	0	0.007291	0	0
ITGAD	3681	broad.mit.edu	37	16	31437362	31437362	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:31437362G>A	ENST00000389202.2	+	30	3448	c.3399G>A	c.(3397-3399)aaG>aaA	p.K1133K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1133					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCACTACAAGGAAATGCTGG	0.498000													10	29					0	0	0.002450	0	0
SPAM1	6677	broad.mit.edu	37	7	123594436	123594436	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:123594436C>T	ENST00000340011.5	+	3	1169	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SPAM1_ENST00000460182.1_Missense_Mutation_p.P271L|SPAM1_ENST00000402183.2_Missense_Mutation_p.P271L|SPAM1_ENST00000223028.7_Missense_Mutation_p.P271L|SPAM1_ENST00000439500.1_Missense_Mutation_p.P271L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	271					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAGCAGTCTCCTGTAGCTGCT	0.418000													42	79					0	0	0.002522	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120406	62120406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:62120406C>T	ENST00000217182.3	-	7	1294	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	EEF1A2_ENST00000298049.7_Missense_Mutation_p.E377K	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	377						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCAATCTTCTCCTTCAGCTCC	0.612000													29	52					0	0	0.005443	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847147	47847147	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:47847147G>A	ENST00000339488.4	-	3	1466	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	478						integral to membrane	hedgehog receptor activity										CCCCATGAAGGAGAAGGAGGC	0.413000													14	26					0	0	0.001855	0	0
FILIP1	27145	broad.mit.edu	37	6	76063410	76063410	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:76063410C>T	ENST00000393004.2	-	4	695	c.474G>A	c.(472-474)caG>caA	p.Q158Q	FILIP1_ENST00000237172.7_Silent_p.Q158Q|FILIP1_ENST00000370020.1_Silent_p.Q59Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	158										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTTTCTTTCTGTTTTTCCT	0.438000													55	61					0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769292	43769292	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:43769292G>A	ENST00000389420.3	-	36	5335	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1779	GON.					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)		CCCATTAAAAGGACATTGATA	0.363000													24	116					0	0	0.006320	0	0
TTLL7	79739	broad.mit.edu	37	1	84403605	84403605	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:84403605G>C	ENST00000260505.8	-	8	1195	c.818C>G	c.(817-819)tCc>tGc	p.S273C	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	273	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CCATTTGATGGAACGTTTGCT	0.368000													26	103					0	0	0.005443	0	0
MUC17	140453	broad.mit.edu	37	7	100685825	100685825	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100685825G>A	ENST00000306151.4	+	3	11192	c.11128G>A	c.(11128-11130)Gag>Aag	p.E3710K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3710	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCAGCTCTGAGGGTAGCAC	0.507000													59	137					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21229477	21229477	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:21229477C>T	ENST00000233242.1	-	26	10390	c.10263G>A	c.(10261-10263)atG>atA	p.M3421I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3421	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGACACTTCCATATTTTTCG	0.393000													253	594					0	0	0.003610	0	0
FOXI1	2299	broad.mit.edu	37	5	169535405	169535405	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:169535405T>G	ENST00000449804.2	+	2	687	c.642T>G	c.(640-642)agT>agG	p.S214R	FOXI1_ENST00000306268.6_Missense_Mutation_p.S309R	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	309					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAGCCCAGTGACAAGACGG	0.612000									Pendred syndrome				18	50					0	0	0.004990	0	0
CLDN1	9076	broad.mit.edu	37	3	190026224	190026224	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:190026224C>T	ENST00000295522.3	-	4	746	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	160					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGACCAAATTCGTACCTAAAA	0.398000													11	37					0	0	0.000978	0	0
LRRC66	339977	broad.mit.edu	37	4	52862289	52862289	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:52862289G>A	ENST00000343457.3	-	4	905	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	300						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGTTTCCCTGGAAATCCTGCT	0.522000													24	70					0	0	0.007291	0	0
PDCD11	22984	broad.mit.edu	37	10	105200065	105200065	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:105200065C>A	ENST00000369797.3	+	29	4261	c.4167C>A	c.(4165-4167)aaC>aaA	p.N1389K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1389	S1 motif 12.				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)		ACCAGAAGAACCTGGTAGAGC	0.522000													54	114					5.52965e-18	8.27926e-18	0.003610	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984425	41984425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:41984425C>T	ENST00000333141.5	+	1	713	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	206										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AGGCTTGTCTCAGCAGGTCCT	0.577000													45	128					0	0	0.002852	0	0
MUC17	140453	broad.mit.edu	37	7	100685611	100685611	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100685611C>T	ENST00000306151.4	+	3	10978	c.10914C>T	c.(10912-10914)acC>acT	p.T3638T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3638	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCATTAACCATTATGCCTG	0.488000													26	104					0	0	0.005443	0	0
TAP1	6890	broad.mit.edu	37	6	32814931	32814931	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:32814931C>A	ENST00000354258.4	-	10	2295	c.2134G>T	c.(2134-2136)Gcg>Tcg	p.A712S	TAP1_ENST00000425148.2_Missense_Mutation_p.A451S|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	712	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						CGGGCCAACGCCACTGCCTGT	0.577000													29	95					3.57733e-08	5.29787e-08	0.001786	1	0
NPAS4	266743	broad.mit.edu	37	11	66189622	66189622	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:66189622C>T	ENST00000311034.2	+	2	383	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	69					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CGGGGCTTCTCTCAGCTCAAG	0.582000											OREG0003368	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NPAS4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	41					0	0	0.007413	0	0
SLC25A17	10478	broad.mit.edu	37	22	41173251	41173251	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:41173251A>T	ENST00000402844.3	-	2	1312	c.332T>A	c.(331-333)cTt>cAt	p.L111H	SLC25A17_ENST00000544408.1_Missense_Mutation_p.L156H|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L120H|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L193H			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	193					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTTCTTTAAAAGCTGCCGTTT	0.383000													8	29					0	0	0.004482	0	0
ABCA9	10350	broad.mit.edu	37	17	66980286	66980286	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:66980286C>T	ENST00000340001.4	-	35	4621	c.4410G>A	c.(4408-4410)acG>acA	p.T1470T	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.T1432T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1470	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CGCCCCTCTCCGTGTTTCTAA	0.517000													18	71					0	0	0.006122	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933703	62933703	+	Silent	SNP	G	G	A	rs138188942		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62933703G>A	ENST00000306494.6	-	7	1097	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	366					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCAAAGTAAGGCCCCAAAAAG	0.448000													24	31					0	0	0.003954	0	0
DEFB125	245938	broad.mit.edu	37	20	76674	76674	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:76674G>A	ENST00000382410.2	+	2	87	c.87G>A	c.(85-87)aaG>aaA	p.K29K		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	29					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AATGTTGGAAGAATAATGTAG	0.323000													52	95					0	0	0.003610	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422865	1422865	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:1422865C>T	ENST00000381524.3	+	11	1182	c.996C>T	c.(994-996)atC>atT	p.I332I	CSF2RA_ENST00000381509.3_Silent_p.I332I|CSF2RA_ENST00000381529.3_Silent_p.I332I|CSF2RA_ENST00000417535.2_Silent_p.I366I|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000501036.2_Silent_p.I199I|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000432318.2_Silent_p.I332I|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	332						extracellular region|integral to plasma membrane	cytokine receptor activity	p.I332I(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCTCCTAATCGTGGGAACCC	0.547000													160	319					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866252	131866252	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:131866252G>A	ENST00000359827.3	-	18	4342	c.3380C>T	c.(3379-3381)tCc>tTc	p.S1127F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1127F			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					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						GATGAGCAGGGACTGGACGTT	0.602000													46	105					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457751	110457751	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:110457751C>T	ENST00000378402.5	+	38	5757	c.5653C>T	c.(5653-5655)Ccc>Tcc	p.P1885S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1885	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGCCGCACTCCCGCTGGGAC	0.433000										HNSCC(38;0.096)			6	34					0	0	0.001168	0	0
HBG1	3047	broad.mit.edu	37	11	5269643	5269643	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5269643G>A	ENST00000330597.3	-	3	477	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	130					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCTGCCAGGAAGCCTGCA	0.502000													13	50					0	0	0.003163	0	0
OR4C6	219432	broad.mit.edu	37	11	55433515	55433515	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:55433515G>A	ENST00000314259.3	+	1	902	c.873G>A	c.(871-873)gaG>gaA	p.E291E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E291D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGAATGCAGAGGTGAAAAGTG	0.458000													17	30					0	0	0.006122	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032203	46032203	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:46032203C>T	ENST00000334662.2	+	1	208	c.186C>T	c.(184-186)acC>acT	p.T62T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	62	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCTGTACCCCTAGCTGCT	0.672000													16	37					0	0	0.003163	0	0
CDH16	1014	broad.mit.edu	37	16	66946011	66946011	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:66946011C>T	ENST00000299752.4	-	13	1774	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E	CDH16_ENST00000565796.1_Silent_p.E527E|CDH16_ENST00000570262.1_Silent_p.E447E|CDH16_ENST00000568632.1_Silent_p.E430E|CDH16_ENST00000394055.3_Silent_p.E527E	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	527	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACCACCACCTCATGACTTG	0.627000													6	55					0	0	0.001984	0	0
GART	2618	broad.mit.edu	37	21	34897290	34897290	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:34897290C>T	ENST00000381831.3	-	11	1347	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	GART_ENST00000381839.3_Missense_Mutation_p.A362T|GART_ENST00000381815.4_Missense_Mutation_p.A362T|GART_ENST00000361093.5_Missense_Mutation_p.A362T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	362					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGTCCTAGAGCTTGAGCCTCA	0.443000													12	49					0	0	0.000978	0	0
NLRP4	147945	broad.mit.edu	37	19	56369277	56369277	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:56369277C>T	ENST00000301295.6	+	3	940	c.518C>T	c.(517-519)tCg>tTg	p.S173L	NLRP4_ENST00000587891.1_Missense_Mutation_p.S98L|NLRP4_ENST00000346986.5_Missense_Mutation_p.S173L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	173	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGGCCTGGTCGGACAACAAG	0.498000													53	62					0	0	0.003610	0	0
DRGX	644168	broad.mit.edu	37	10	50594858	50594858	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:50594858C>T	ENST00000374139.2	-	4	291	c.281G>A	c.(280-282)gGg>gAg	p.G94E	DRGX_ENST00000434016.1_Missense_Mutation_p.G99E			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTCTGAGGCCCCTCTCTCTGT	0.567000													47	180					0	0	0.003610	0	0
PRAM1	84106	broad.mit.edu	37	19	8564341	8564341	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:8564341C>T	ENST00000423345.4	-	2	871	c.351G>A	c.(349-351)aaG>aaA	p.K117K	PRAM1_ENST00000255612.3_Silent_p.K117K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	165	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGGACGGCTTCTTGGGGAGGT	0.647000													83	98					0	0	0.003610	0	0
FAM227B	196951	broad.mit.edu	37	15	49882204	49882204	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:49882204C>T	ENST00000299338.6	-	4	409	c.105_splice	c.e4-1	p.D36_splice	FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Splice_Site_p.D36_splice|FAM227B_ENST00000558594.1_Splice_Site_p.D36_splice|FAM227B_ENST00000561064.1_Splice_Site_p.D36_splice	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGCCAATAATCCTGCAAAAAA	0.284000													11	33					0	0	0.008291	0	0
FCRL3	115352	broad.mit.edu	37	1	157667200	157667200	+	Missense_Mutation	SNP	G	G	A	rs138227125		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:157667200G>A	ENST00000368184.3	-	6	865	c.574C>T	c.(574-576)Cct>Tct	p.P192S	FCRL3_ENST00000368186.5_Missense_Mutation_p.P192S|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	192	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTCAGCACAGGATGTAGAAAC	0.532000													25	60					0	0	0.005443	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454814	96454814	+	Silent	SNP	C	C	T	rs11188057		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:96454814C>T	ENST00000285979.6	+	4	821	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CYP2C18_ENST00000339022.5_Silent_p.L208L|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CCTCAGGATTCTGAGCTCTCC	0.323000													13	27					0	0	0.001368	0	0
OR51I1	390063	broad.mit.edu	37	11	5462097	5462097	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5462097G>A	ENST00000380211.1	-	1	647	c.648C>T	c.(646-648)atC>atT	p.I216I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAAGCAGGATGAAAGTTG	0.458000													5	36					0	0	0.000602	0	0
KIAA1841	84542	broad.mit.edu	37	2	61298824	61298824	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:61298824G>A	ENST00000402291.1	+	4	475	c.234G>A	c.(232-234)gaG>gaA	p.E78E	KIAA1841_ENST00000453873.1_Silent_p.E78E|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Silent_p.E78E|KIAA1841_ENST00000356719.2_Silent_p.E78E	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	78								p.E78D(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CTGCTGGAGAGAGTCCTGTTG	0.393000													23	48					0	0	0.001882	0	0
MORC2	22880	broad.mit.edu	37	22	31324111	31324111	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:31324111G>A	ENST00000215862.4	-	26	4102	c.2739C>T	c.(2737-2739)gcC>gcT	p.A913A	MORC2_ENST00000397641.2_Silent_p.A975A|MORC2-AS1_ENST00000441558.1_RNA	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	975							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TTTCCTCGGAGGCCTTGGCCC	0.577000													23	53					0	0	0.002780	0	0
F5	2153	broad.mit.edu	37	1	169515828	169515828	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:169515828C>T	ENST00000367796.3	-	11	1815	c.1614G>A	c.(1612-1614)agG>agA	p.R538R	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Silent_p.R538R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	538	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTCTGCTGCCCTCTGGAGGA	0.438000													28	69					0	0	0.008361	0	0
SGMS1	259230	broad.mit.edu	37	10	52103795	52103795	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:52103795G>A	ENST00000361781.2	-	7	1039	c.80C>T	c.(79-81)cCt>cTt	p.P27L	SGMS1_ENST00000361543.2_Missense_Mutation_p.P27L|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	33	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ATGCTCCAGAGGCTCACAGTA	0.522000													27	71					0	0	0.003954	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784638	30784638	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:30784638G>A	ENST00000246229.4	-	3	1372	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	370						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAGAGACAGGCTTCCAGGA	0.587000													24	73					0	0	0.002780	0	0
SERPINA6	866	broad.mit.edu	37	14	94770782	94770782	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94770782G>A	ENST00000341584.3	-	5	1337	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	397					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCCTCGCCAGGAAAAGGCTGC	0.527000													40	82					0	0	0.002522	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870087	151870087	+	Silent	SNP	G	G	A	rs79585035		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:151870087G>A	ENST00000329342.5	+	3	1002	c.777G>A	c.(775-777)cgG>cgA	p.R259R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTACCGGCAGGTCCCCG	0.522000													65	59					0	0	0.003610	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452071	42452071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:42452071G>A	ENST00000262407.5	-	28	2930	c.2899C>T	c.(2899-2901)Ccc>Tcc	p.P967S	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	967					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCGCATAGGGGAGGGAGGAC	0.622000													30	57					0	0	0.002445	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212753	134212753	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:134212753C>T	ENST00000535456.2	+	2	380	c.192C>T	c.(190-192)ttC>ttT	p.F64F	GLB1L2_ENST00000389881.3_Silent_p.F64F|GLB1L2_ENST00000339772.7_Silent_p.F64F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	64					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGGATCTTCGGGGGCTCCA	0.617000													11	83					0	0	0.000978	0	0
CD7	924	broad.mit.edu	37	17	80274811	80274811	+	Silent	SNP	G	G	A	rs139943005		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80274811G>A	ENST00000584284.1	-	2	210	c.129C>T	c.(127-129)tcC>tcT	p.S43S	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Silent_p.S43S|CD7_ENST00000583376.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	43	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGATGTTGACGGAGGCTCCCA	0.632000													22	33					0	0	0.002299	0	0
WNT7A	7476	broad.mit.edu	37	3	13860792	13860792	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:13860792G>A	ENST00000285018.4	-	4	1003	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	233					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GAACGGCCTCGTTGTACTTGT	0.612000													39	56					0	0	0.004878	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463384	241463384	+	Silent	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:241463384A>G	ENST00000391987.1	-	8	1849	c.1483T>C	c.(1483-1485)Ttg>Ctg	p.L495L	ANKMY1_ENST00000272972.3_Silent_p.L495L|ANKMY1_ENST00000536462.1_Silent_p.L307L|ANKMY1_ENST00000406958.1_Silent_p.L256L|ANKMY1_ENST00000405523.3_Silent_p.L354L|ANKMY1_ENST00000405002.1_Silent_p.L265L|ANKMY1_ENST00000403283.1_Silent_p.L433L|ANKMY1_ENST00000401804.1_Silent_p.L584L|ANKMY1_ENST00000373318.2_Silent_p.L354L|ANKMY1_ENST00000373320.4_Silent_p.L265L|ANKMY1_ENST00000361678.4_Silent_p.L354L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	495							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATCTTCAGCAAGCTGTGGGAC	0.597000													33	53					0	0	0.002445	0	0
COL27A1	85301	broad.mit.edu	37	9	117014922	117014922	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:117014922C>T	ENST00000356083.3	+	26	3474	c.3083C>T	c.(3082-3084)tCg>tTg	p.S1028L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1028	Collagen-like 7.|Pro-rich.|Triple-helical region.				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						CCCAAGGGGTCGATGGTAAGG	0.592000													63	70					0	0	0.003610	0	0
CACNG3	10368	broad.mit.edu	37	16	24268286	24268286	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24268286G>A	ENST00000005284.3	+	1	1413	c.211_splice	c.e1+1	p.G71_splice		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	71					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTGCCTAGAAGGTATTTACAA	0.428000													17	23					0	0	0.004990	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327227	150327227	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:150327227C>T	ENST00000328902.5	-	2	220	c.4G>A	c.(4-6)Gag>Aag	p.E2K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E2K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	2							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTTCTTCCTCCATCTACaaa	0.423000													31	67					0	0	0.007291	0	0
UCHL1	7345	broad.mit.edu	37	4	41262768	41262768	+	Silent	SNP	C	C	T	rs121917767		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:41262768C>T	ENST00000284440.4	+	4	423	c.279C>T	c.(277-279)atC>atT	p.I93I	UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000503431.1_Silent_p.I93I|UCHL1_ENST00000508768.1_Silent_p.I93I|UCHL1_ENST00000512788.1_Silent_p.I93I	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	93			I -> M (in PARK5; impaired enzymatic hydrolase activity; has about a 50% reduction in catalytic activity compared to wild-type protein).		cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GTGGCACAATCGGACTTATTC	0.443000													40	108					0	0	0.002222	0	0
FAM124B	79843	broad.mit.edu	37	2	225266236	225266236	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:225266236G>A	ENST00000389874.3	-	1	475	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM124B_ENST00000409685.3_Missense_Mutation_p.R84C|FAM124B_ENST00000243806.2_Missense_Mutation_p.R84C	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	84							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCCAGGACGCGAAATAGCCTA	0.547000													16	40					0	0	0.004007	0	0
OR5H15	403274	broad.mit.edu	37	3	97888369	97888369	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:97888369C>T	ENST00000356526.2	+	1	826	c.826C>T	c.(826-828)Cta>Tta	p.L276L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGTGGAGCCTCTATTCTACAC	0.388000													17	56					0	0	0.004990	0	0
NPY2R	4887	broad.mit.edu	37	4	156135760	156135760	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:156135760C>T	ENST00000329476.3	+	2	1158	c.669C>T	c.(667-669)tcC>tcT	p.S223S	NPY2R_ENST00000506608.1_Silent_p.S223S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	223					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTCTTTCTTCCTTGTTGATCT	0.448000													44	103					0	0	0.002522	0	0
OR4C3	256144	broad.mit.edu	37	11	48346903	48346903	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:48346903C>T	ENST00000319856.4	+	1	432	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGTTGAGATCATTCTGCTCA	0.478000													17	209					0	0	0.003755	0	0
CD248	57124	broad.mit.edu	37	11	66083855	66083855	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:66083855T>C	ENST00000311330.3	-	1	660	c.644A>G	c.(643-645)aAg>aGg	p.K215R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	215	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTCAGGCTGCTTCACGCAGAG	0.667000													9	37					0	0	0.006214	0	0
TRIM3	10612	broad.mit.edu	37	11	6477540	6477540	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:6477540G>A	ENST00000525074.1	-	6	1810	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	TRIM3_ENST00000359518.3_Silent_p.L472L|TRIM3_ENST00000345851.3_Silent_p.L472L|TRIM3_ENST00000537602.1_Silent_p.L394L|TRIM3_ENST00000536344.1_Silent_p.L353L|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	472					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.L472L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGGAAGACGAGCTCATCCT	0.607000													26	44					0	0	0.005443	0	0
DNAI1	27019	broad.mit.edu	37	9	34517343	34517343	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:34517343G>A	ENST00000242317.4	+	19	2050	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	627					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCCTGTGGCGGCCAAAAAGAA	0.542000									Kartagener syndrome				16	19					0	0	0.004007	0	0
ATG13	9776	broad.mit.edu	37	11	46689398	46689398	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:46689398C>T	ENST00000434074.1	+	13	1802	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	ATG13_ENST00000359513.4_Silent_p.V371V|ATG13_ENST00000312040.4_Silent_p.V371V|ATG13_ENST00000526508.1_Silent_p.V371V|ATG13_ENST00000530500.1_Silent_p.V255V|ATG13_ENST00000529655.1_Silent_p.V334V|ATG13_ENST00000524625.1_Silent_p.V334V|ATG13_ENST00000451945.1_Silent_p.V334V|ATG13_ENST00000528494.1_Silent_p.V404V	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	371					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCATCTTTGTCCGAAAAGTGG	0.493000													16	46					0	0	0.004990	0	0
ADH1A	124	broad.mit.edu	37	4	100203727	100203727	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:100203727C>T	ENST00000209668.2	-	6	717	c.604G>A	c.(604-606)Gga>Aga	p.G202R	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	202					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCGACCCCTCCCAGGCCAAAC	0.458000													69	185					0	0	0.003610	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997471	19997471	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:19997471C>T	ENST00000391403.2	-	1	407	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	102						integral to membrane		p.E102K(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCAGCTTTTCGCAGGTTGCC	0.363000													116	160					0	0	0.003610	0	0
CLVS2	134829	broad.mit.edu	37	6	123369856	123369856	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:123369856G>A	ENST00000275162.4	+	4	1989	c.654G>A	c.(652-654)ctG>ctA	p.L218L	CLVS2_ENST00000368438.1_Silent_p.L72L	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	218	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGCCTTTCCTGAAGGAGAAAA	0.388000													64	86					0	0	0.003610	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660223	113660223	+	RNA	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:113660223A>G	ENST00000393544.2	+	0	271																											GGCCAGGTGAAGAACCCCGGC	0.617000													4	25					0	0	0.001168	0	0
ADORA3	140	broad.mit.edu	37	1	112042689	112042689	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:112042689G>A	ENST00000241356.4	-	2	1245	c.840C>T	c.(838-840)atC>atT	p.I280I	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	280					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGGCATAGACGATAGGGTTCA	0.443000													7	42					0	0	0.003080	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149274	73149274	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:73149274G>A	ENST00000286657.4	-	22	3233	c.3197C>T	c.(3196-3198)gCt>gTt	p.A1066V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1066					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAGTTTCAGCAGCTTCTAG	0.473000													51	93					0	0	0.003610	0	0
PDE1C	5137	broad.mit.edu	37	7	31862772	31862772	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:31862772G>A	ENST00000396184.3	-	15	1701	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	PDE1C_ENST00000396191.1_Silent_p.I499I|PDE1C_ENST00000321453.7_Silent_p.I499I|PDE1C_ENST00000396182.2_Silent_p.I499I|PDE1C_ENST00000396193.1_Silent_p.I559I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	499	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTCAACGGAGATGACAGAAT	0.488000													41	95					0	0	0.006230	0	0
RIT2	6014	broad.mit.edu	37	18	40613800	40613800	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:40613800G>A	ENST00000589109.1	-	2	307	c.136C>T	c.(136-138)Cct>Tct	p.P46S	RIT2_ENST00000590910.1_Missense_Mutation_p.P46S|RIT2_ENST00000282028.4_Missense_Mutation_p.P46S|RIT2_ENST00000326695.5_Missense_Mutation_p.P46S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	46					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATAATCAGGGAACTGATGA	0.318000													14	29					0	0	0.003163	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891529	18891529	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:18891529C>T	ENST00000317658.3	+	1	485	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	109					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTCATGGTATCATTCAGAATG	0.388000													21	37					0	0	0.001523	0	0
CAMKV	79012	broad.mit.edu	37	3	49897086	49897086	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:49897086C>T	ENST00000477224.1	-	11	1649	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	CAMKV_ENST00000467248.1_Missense_Mutation_p.D316N|CAMKV_ENST00000488336.1_Missense_Mutation_p.D360N|CAMKV_ENST00000466940.1_Missense_Mutation_p.D317N|CAMKV_ENST00000296471.7_Missense_Mutation_p.D363N|CAMKV_ENST00000463537.1_Silent_p.Q322Q			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	391	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTTCCATCTGTGGCTGGG	0.617000													79	158					0	0	0.003610	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918341	32918341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:32918341G>A	ENST00000374843.4	-	2	413	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000395303.3_Nonsense_Mutation_p.Q110*	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	110						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						CCTATTTGCTGGATCATCCAC	0.522000													171	169					0	0	0.003610	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669505	48669505	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:48669505G>A	ENST00000455886.2	-	5	501	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	SLC26A6_ENST00000358747.6_Intron|SLC26A6_ENST00000395550.2_Intron|SLC26A6_ENST00000420764.2_Intron|SLC26A6_ENST00000383733.3_Intron|SLC26A6_ENST00000482282.1_Intron|SLC26A6_ENST00000337000.8_Intron					solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAGTCAGGAGAGGCAGGGGT	0.622000													27	50					0	0	0.004656	0	0
DNAH2	146754	broad.mit.edu	37	17	7691218	7691218	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7691218C>T	ENST00000572933.1	+	43	8104	c.6644C>T	c.(6643-6645)tCt>tTt	p.S2215F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2215F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2215	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAATGGCCTCTCCGGCCACT	0.527000													24	50					0	0	0.003330	0	0
TMEM175	84286	broad.mit.edu	37	4	946159	946159	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:946159C>T	ENST00000264771.4	+	7	568	c.383C>T	c.(382-384)tCg>tTg	p.S128L	TMEM175_ENST00000515740.1_Missense_Mutation_p.S12L|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.S46L	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	128						integral to membrane		p.S128L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAACAGTTTTCGTTAATGGTG	0.562000													59	157					0	0	0.003610	0	0
MGAT4A	11320	broad.mit.edu	37	2	99294786	99294786	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:99294786A>C	ENST00000393487.1	-	3	556	c.243T>G	c.(241-243)gaT>gaG	p.D81E	MGAT4A_ENST00000409391.1_Missense_Mutation_p.D81E|MGAT4A_ENST00000264968.2_Missense_Mutation_p.D81E	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	81					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TATTCAACGCATCCTTACTTC	0.289000													20	59					0	0	0.001882	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891276	18891276	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:18891276G>A	ENST00000317658.3	+	1	232	c.74G>A	c.(73-75)gGg>gAg	p.G25E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCCCCTCCAGGGGAATTTGTA	0.463000													36	83					0	0	0.003271	0	0
ULK4	54986	broad.mit.edu	37	3	41996125	41996125	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:41996125T>A	ENST00000301831.4	-	2	589	c.127A>T	c.(127-129)Ata>Tta	p.I43L	ULK4_ENST00000414606.1_Missense_Mutation_p.I43L|ULK4_ENST00000420927.1_Missense_Mutation_p.I43L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	43	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAGTTGGTTATTTCAGGCCTT	0.423000													33	78					0	0	0.003271	0	0
RP2	6102	broad.mit.edu	37	X	46719518	46719518	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:46719518C>T	ENST00000218340.3	+	3	1025	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	288					cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CACCTGACTTCCTTCCTCTTC	0.388000													24	14					0	0	0.005443	0	0
OR8H3	390152	broad.mit.edu	37	11	55890498	55890498	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:55890498C>T	ENST00000313472.3	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATATCTGCATCCTATGTGTCC	0.433000													12	98					0	0	0.001368	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258394	9258394	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:9258394A>G	ENST00000383440.2	+	8	5317	c.5060A>G	c.(5059-5061)tAt>tGt	p.Y1687C	ANKRD12_ENST00000262126.3_Missense_Mutation_p.Y1710C|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Y1687C	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1710						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGCATAAATATGGTCAGTTA	0.338000													3	28					0	0	0.004672	0	0
RP1	6101	broad.mit.edu	37	8	55541974	55541974	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:55541974G>A	ENST00000220676.1	+	4	5680	c.5532G>A	c.(5530-5532)aaG>aaA	p.K1844K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1844					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTGTGCCAAGGAAAGAATAG	0.408000													15	24					0	0	0.003163	0	0
LRRC16B	90668	broad.mit.edu	37	14	24526176	24526176	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:24526176C>T	ENST00000342740.5	+	13	1159	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	335										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGCCAGCTCCCTTCGATACC	0.627000													11	45					0	0	0.001368	0	0
DMTN	2039	broad.mit.edu	37	8	21938682	21938682	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:21938682G>A	ENST00000358242.3	+	15	1575	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	DMTN_ENST00000381470.3_Missense_Mutation_p.G339E|DMTN_ENST00000523782.2_Missense_Mutation_p.G314E|DMTN_ENST00000517600.1_Missense_Mutation_p.G321E|DMTN_ENST00000519907.1_Missense_Mutation_p.G339E|DMTN_ENST00000443491.2_Missense_Mutation_p.G314E|DMTN_ENST00000432128.1_Missense_Mutation_p.G361E|DMTN_ENST00000415253.1_Missense_Mutation_p.G339E|DMTN_ENST00000523266.1_Missense_Mutation_p.G361E|DMTN_ENST00000265800.5_Missense_Mutation_p.G361E					dematin actin binding protein																		CTGCCACCGGGGGTGGATCGG	0.612000													18	76					0	0	0.007413	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21446932	21446932	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:21446932G>A	ENST00000307378.6	-	12	2104	c.1384C>T	c.(1384-1386)Ctg>Ttg	p.L462L	SLCO1A2_ENST00000452078.1_Silent_p.L462L|SLCO1A2_ENST00000390670.3_Silent_p.L460L|SLCO1A2_ENST00000458504.1_Silent_p.L330L|SLCO1A2_ENST00000537524.1_Silent_p.L330L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	462	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.L462L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CAAGCTGACAGATATGACAAG	0.388000													11	22					0	0	0.001855	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235856	140235856	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140235856G>A	ENST00000307360.5	+	1	223	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E75K|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTTCTGGAGGTAAATCT	0.617000													32	192					0	0	0.001786	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	49					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132161573	132161573	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:132161573C>T	ENST00000511190.1	-	6	1145	c.676G>A	c.(676-678)Gag>Aag	p.E226K	USP26_ENST00000370832.1_Missense_Mutation_p.E226K|USP26_ENST00000406273.1_Missense_Mutation_p.E226K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	226					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)					TCTTCTAACTCTTTTAACTTC	0.363000													17	12					0	0	0.004990	0	0
ABCC4	10257	broad.mit.edu	37	13	95725490	95725490	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:95725490A>C	ENST00000376887.4	-	24	3100	c.2986T>G	c.(2986-2988)Tgt>Ggt	p.C996G	ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.C949G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	996	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTCGAACACACCACTGAAAC	0.448000													13	36					0	0	0.003163	0	0
RING1	6015	broad.mit.edu	37	6	33178988	33178988	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33178988G>T	ENST00000374656.4	+	5	717	c.509G>T	c.(508-510)aGt>aTt	p.S170I	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						ACAACGATGAGTGGGGGGGAA	0.617000													161	177					3.98587e-82	5.9876e-82	0.003610	1	0
GJB5	2709	broad.mit.edu	37	1	35223285	35223285	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:35223285G>A	ENST00000338513.1	+	2	527	c.354G>A	c.(352-354)ctG>ctA	p.L118L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	118					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GCCTCTACCTGAACCCCGGCA	0.597000													39	95					0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	2964062	2964062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:2964062G>A	ENST00000520002.1	-	47	7495	c.6940C>T	c.(6940-6942)Cca>Tca	p.P2314S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2314S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2314S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2314S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2313S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2313S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2314	Sushi 13.					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)		TCACATGTTGGGAGAGAACCC	0.423000													7	17					0	0	0.003080	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626826	140626826	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140626826C>T	ENST00000231173.3	+	1	1680	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		560	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F560F(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.721000													15	34					0	0	0.007413	0	0
IL36G	56300	broad.mit.edu	37	2	113742458	113742458	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:113742458G>A	ENST00000259205.4	+	5	411	c.342G>A	c.(340-342)gtG>gtA	p.V114V	IL36G_ENST00000376489.2_Silent_p.V79V	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	114					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGAGCCCGTGAAACCCTTCC	0.512000													59	137					0	0	0.003610	0	0
LARS2	23395	broad.mit.edu	37	3	45589004	45589004	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:45589004C>T	ENST00000415258.1	+	21	2835	c.2694C>T	c.(2692-2694)aaC>aaT	p.N898N	LARS2_ENST00000414984.1_Silent_p.N855N|LARS2_ENST00000265537.3_Silent_p.N898N			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	898					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCCTCATCAACTTCCTGGTGC	0.562000													31	106					0	0	0.002445	0	0
FAAH2	158584	broad.mit.edu	37	X	57473467	57473467	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:57473467C>T	ENST00000374900.4	+	9	1343	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	408						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACCATCCCTTCCATTGGTATG	0.398000										HNSCC(52;0.14)			11	10					0	0	0.008291	0	0
LRTM2	654429	broad.mit.edu	37	12	1943507	1943507	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:1943507G>A	ENST00000543818.1	+	5	1575	c.733G>A	c.(733-735)Gag>Aag	p.E245K	LRTM2_ENST00000535041.1_Missense_Mutation_p.E245K|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.E245K|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	245	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTCCCCATGGAGATGTTCAA	0.592000													16	54					0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62298653	62298653	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:62298653G>A	ENST00000378024.4	-	5	3510	c.3236C>T	c.(3235-3237)cCc>cTc	p.P1079L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1079					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)				TTTCATTTTGGGTCCTTTAAG	0.443000													42	97					0	0	0.002522	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													4	36					0	0	0.000602	0	0
FASN	2194	broad.mit.edu	37	17	80038687	80038687	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80038687G>A	ENST00000306749.2	-	39	6925	c.6707C>T	c.(6706-6708)tCc>tTc	p.S2236F	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2236	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCTCTGCACGGAGTTGAGCCG	0.672000													16	25					0	0	0.007413	0	0
VAV2	7410	broad.mit.edu	37	9	136650974	136650974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:136650974C>A	ENST00000371851.1	-	15	1751	c.1426G>T	c.(1426-1428)Gga>Tga	p.G476*	VAV2_ENST00000406606.3_Nonsense_Mutation_p.G476*|VAV2_ENST00000371850.3_Nonsense_Mutation_p.G486*			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	486	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCCTGCTTTCCTTGAAGGTGA	0.537000													15	9					2.31682e-05	3.41255e-05	0.003163	1	0
OTUD7B	56957	broad.mit.edu	37	1	149916096	149916096	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:149916096G>A	ENST00000369135.3	-	12	2486	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	731					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCACTGTCTGGGGAAGGTGGC	0.657000													24	49					0	0	0.004656	0	0
ADAM21	8747	broad.mit.edu	37	14	70924293	70924293	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:70924293C>T	ENST00000603540.1	+	2	335	c.77C>T	c.(76-78)tCc>tTc	p.S26F	ADAM21_ENST00000267499.3_Missense_Mutation_p.S26F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	26					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGTCTATTTCCGGCTACTGT	0.542000													46	155					0	0	0.003214	0	0
PCSK5	5125	broad.mit.edu	37	9	78848417	78848417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:78848417G>A	ENST00000545128.1	+	22	3309	c.2771G>A	c.(2770-2772)tGg>tAg	p.W924*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	625					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						TGCCCCTCATGGAAATTTGAA	0.502000													22	25					0	0	0.002299	0	0
RBL1	5933	broad.mit.edu	37	20	35663762	35663762	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:35663762G>A	ENST00000373664.3	-	15	2119	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	RBL1_ENST00000344359.3_Missense_Mutation_p.P685S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	685	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTTGAAGAAGGAGCGATTTTC	0.423000													23	60					0	0	0.004656	0	0
USH2A	7399	broad.mit.edu	37	1	216262415	216262415	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:216262415C>T	ENST00000366943.2	-	23	5211	c.4825G>A	c.(4825-4827)Gaa>Aaa	p.E1609K	USH2A_ENST00000307340.3_Missense_Mutation_p.E1609K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1609	Laminin G-like 1.				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)		GCAATTATTTCATGCCATTTT	0.338000										HNSCC(13;0.011)			27	71					0	0	0.006320	0	0
CACNG3	10368	broad.mit.edu	37	16	24372957	24372957	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24372957G>A	ENST00000005284.3	+	4	1923	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	241					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCGCTCCACCGAGCCCAGATC	0.572000													23	43					0	0	0.001882	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279124	105279124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:105279124C>T	ENST00000327674.4	-	2	1210	c.875G>A	c.(874-876)tGg>tAg	p.W292*	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Nonsense_Mutation_p.W292*			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	292					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TAAGCGGTTCCACTTCTTCAG	0.493000													72	78					0	0	0.003610	0	0
DDR1	780	broad.mit.edu	37	6	30862383	30862383	+	Missense_Mutation	SNP	C	C	T	rs150721017	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:30862383C>T	ENST00000324771.8	+	13	1996	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	DDR1_ENST00000376575.3_Missense_Mutation_p.P483L|DDR1_ENST00000452441.1_Missense_Mutation_p.P483L|DDR1_ENST00000454612.2_Missense_Mutation_p.P483L|DDR1_ENST00000508312.1_Missense_Mutation_p.P501L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Missense_Mutation_p.P483L|DDR1_ENST00000376570.4_Missense_Mutation_p.P483L|DDR1_ENST00000361741.4_Missense_Mutation_p.R187C|DDR1_ENST00000418800.2_Missense_Mutation_p.P483L|DDR1_ENST00000376569.3_Missense_Mutation_p.P483L|DDR1_ENST00000513240.1_Missense_Mutation_p.P483L|DDR1_ENST00000376568.3_Missense_Mutation_p.P483L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	483	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGCCACCCCCGTACCAGGAG	0.627000													50	103					0	0	0.003610	0	0
OLFM1	10439	broad.mit.edu	37	9	137987737	137987737	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:137987737G>T	ENST00000252854.4	+	3	461	c.274G>T	c.(274-276)Gtc>Ttc	p.V92F	OLFM1_ENST00000371796.3_Missense_Mutation_p.V83F|OLFM1_ENST00000371793.3_Missense_Mutation_p.V110F|OLFM1_ENST00000277415.11_Missense_Mutation_p.V92F|OLFM1_ENST00000392991.4_Missense_Mutation_p.V110F	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	110					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATCCATAGAGGTCTTGGACAG	0.512000													30	34					1.45844e-13	2.17407e-13	0.002836	1	0
TG	7038	broad.mit.edu	37	8	133885333	133885333	+	Missense_Mutation	SNP	C	C	T	rs143578780		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:133885333C>T	ENST00000220616.4	+	5	545	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	TG_ENST00000377869.1_Missense_Mutation_p.R169C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	169	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATAAGAAATCGTCGTCTTCT	0.443000													15	26					0	0	0.006122	0	0
OR2M7	391196	broad.mit.edu	37	1	248487141	248487141	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:248487141G>A	ENST00000317965.2	-	1	758	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCATGAGGTGAGAGGAACAA	0.458000													53	154					0	0	0.003610	0	0
NXPH2	11249	broad.mit.edu	37	2	139428990	139428990	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:139428990C>T	ENST00000272641.3	-	2	403	c.297G>A	c.(295-297)cgG>cgA	p.R99R		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	99	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTATTGGCCTCCGTTTAGTTC	0.458000													26	73					0	0	0.003330	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723892	38723892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:38723892C>T	ENST00000342213.2	-	1	1682	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	446						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGCTCAGGATCACTCTCCAGG	0.582000													20	71					0	0	0.001882	0	0
OR52E6	390078	broad.mit.edu	37	11	5862489	5862489	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5862489G>A	ENST00000329322.5	-	1	638	c.639C>T	c.(637-639)ctC>ctT	p.L213L	OR52E6_ENST00000379946.2_Silent_p.L217L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATAATAAGGAGCACATCCA	0.488000													11	25					0	0	0.008291	0	0
ADTRP	84830	broad.mit.edu	37	6	11768493	11768493	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:11768493G>A	ENST00000414691.3	-	2	687	c.277C>T	c.(277-279)Cct>Tct	p.P93S	ADTRP_ENST00000379413.2_Missense_Mutation_p.P93S|ADTRP_ENST00000229583.5_Missense_Mutation_p.P111S	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	93						integral to membrane											GTGGATACAGGAAAAGCCAGA	0.468000													42	50					0	0	0.002852	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262827	232262827	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:232262827G>A	ENST00000287590.5	+	2	658	c.397G>A	c.(397-399)Gat>Aat	p.D133N	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	133					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.D133N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GTGCAGGGGCGATGTCTACCT	0.662000													13	31					0	0	0.001368	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473081	22473081	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:22473081C>T	ENST00000557788.2	-	0	189																											CACTCCAGCCCCTTCCCTGGG	0.572000													15	174					0	0	0.004990	0	0
OR2A5	393046	broad.mit.edu	37	7	143747507	143747507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:143747507C>T	ENST00000408906.2	+	1	47	c.13C>T	c.(13-15)Cag>Tag	p.Q5*		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GACAAAAAATCAGACATGGGT	0.478000													32	90					0	0	0.002836	0	0
GPR179	440435	broad.mit.edu	37	17	36499539	36499539	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:36499539C>T	ENST00000342292.4	-	1	154	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGTACAGATCCTGGCTTGAC	0.622000													9	79					0	0	0.008291	0	0
NUAK2	81788	broad.mit.edu	37	1	205272896	205272896	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:205272896G>A	ENST00000367157.3	-	7	1695	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	523					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTTCATCCAGGGAGCCGAAGG	0.642000													29	83					0	0	0.002096	0	0
ITGA1	3672	broad.mit.edu	37	5	52214623	52214623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:52214623C>T	ENST00000282588.6	+	16	2508	c.2050C>T	c.(2050-2052)Caa>Taa	p.Q684*		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	684					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTGAATATTCAAAAGAAAAA	0.348000													7	43					0	0	0.004482	0	0
ITIH5	80760	broad.mit.edu	37	10	7657990	7657990	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:7657990G>A	ENST00000256861.6	-	7	972	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ITIH5_ENST00000397145.2_Silent_p.F298F|ITIH5_ENST00000298441.6_Silent_p.F84F|ITIH5_ENST00000397146.2_Silent_p.F298F|ITIH5_ENST00000446830.2_Silent_p.F80F|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	298	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTCAAGCACGAATACCACAT	0.478000													34	90					0	0	0.006230	0	0
HPSE2	60495	broad.mit.edu	37	10	100374730	100374730	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:100374730G>A	ENST00000370552.3	-	9	1310	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	HPSE2_ENST00000404542.1_Silent_p.V305V|HPSE2_ENST00000370546.1_Silent_p.V417V|HPSE2_ENST00000370549.1_Silent_p.V359V	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	417					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			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)		GCCGTATCACGACATCAATGC	0.388000													35	69					0	0	0.004289	0	0
DENND3	22898	broad.mit.edu	37	8	142161759	142161759	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:142161759C>T	ENST00000519811.1	+	7	967	c.897C>T	c.(895-897)ttC>ttT	p.F299F	DENND3_ENST00000424248.1_Silent_p.F219F|DENND3_ENST00000262585.2_Silent_p.F219F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	219										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGTCTTCTTCTCCTCGGACT	0.542000													27	98					0	0	0.001786	0	0
OR2G2	81470	broad.mit.edu	37	1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175C(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557000													41	135					0	0	0.006230	0	0
E4F1	1877	broad.mit.edu	37	16	2285568	2285568	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:2285568G>A	ENST00000301727.4	+	14	2398	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.V607I	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	784					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GACGGTCATCGTCTAGCATGA	0.642000													9	11					0	0	0.004482	0	0
FAM179A	165186	broad.mit.edu	37	2	29225560	29225560	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:29225560G>A	ENST00000379558.4	+	5	937	c.586G>A	c.(586-588)Gac>Aac	p.D196N	FAM179A_ENST00000403861.2_Missense_Mutation_p.D196N	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	196							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGGCCTGGACCTACCGGG	0.622000													11	32					0	0	0.001368	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458768	100458768	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:100458768C>T	ENST00000354161.3	+	10	1352	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	SLC12A9_ENST00000540482.1_Silent_p.L409L|SLC12A9_ENST00000415287.1_Silent_p.L320L|SLC12A9_ENST00000428758.1_Silent_p.L409L|SLC12A9_ENST00000275729.3_Silent_p.L320L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	409						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTGGTGCTCCTGGCTGGGA	0.597000													43	105					0	0	0.002222	0	0
FAM65B	9750	broad.mit.edu	37	6	24848259	24848259	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:24848259G>A	ENST00000259698.4	-	12	1246	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	FAM65B_ENST00000538035.1_Silent_p.S386S|FAM65B_ENST00000540914.1_Silent_p.S357S|FAM65B_ENST00000378023.4_Silent_p.S357S|FAM65B_ENST00000510784.2_Silent_p.S391S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	357					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTACAAAGAAGGAGTGGTCTT	0.522000													20	56					0	0	0.001882	0	0
POLQ	10721	broad.mit.edu	37	3	121207738	121207738	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:121207738G>A	ENST00000264233.5	-	16	4168	c.4040C>T	c.(4039-4041)aCc>aTc	p.T1347I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1347					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCCAGGTTGGTGTCCTTTGC	0.423000								DNA polymerases (catalytic subunits)					30	108					0	0	0.003755	0	0
ADGRG1	9289	broad.mit.edu	37	16	57685239	57685239	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:57685239C>T	ENST00000562631.1	+	3	724	c.192C>T	c.(190-192)gcC>gcT	p.A64A	GPR56_ENST00000568908.1_Silent_p.A64A|GPR56_ENST00000568909.1_Silent_p.A64A|GPR56_ENST00000562558.1_Silent_p.A64A|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000540164.2_Silent_p.A64A|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000456916.1_Silent_p.A64A|GPR56_ENST00000388812.4_Silent_p.A64A|GPR56_ENST00000379696.3_Silent_p.A64A|GPR56_ENST00000388813.5_Silent_p.A64A|GPR56_ENST00000538815.1_Silent_p.A64A|GPR56_ENST00000567835.1_Silent_p.A64A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	64					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCGAAGAGGCCCTCACAGTCC	0.602000													30	66					0	0	0.006320	0	0
P2RX7	5027	broad.mit.edu	37	12	121614989	121614989	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:121614989G>A	ENST00000328963.5	+	9	956	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	P2RX7_ENST00000546057.1_Missense_Mutation_p.G338S|P2RX7_ENST00000541446.1_Missense_Mutation_p.G49S|P2RX7_ENST00000535250.1_Missense_Mutation_p.G248S|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.G249S			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	338						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTGTACATCGGCTCAACCCT	0.443000													192	512					0	0	0.003610	0	0
CASP5	838	broad.mit.edu	37	11	104871020	104871020	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:104871020G>A	ENST00000393141.2	-	6	990	c.959C>T	c.(958-960)cCc>cTc	p.P320L	CASP5_ENST00000526056.1_Missense_Mutation_p.P320L|CASP5_ENST00000444749.2_Missense_Mutation_p.P249L|CASP5_ENST00000531367.1_Missense_Mutation_p.P165L|CASP5_ENST00000418434.1_Missense_Mutation_p.P165L|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.P307L	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	307					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.P320R(1)|p.P291R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GATGACCTTGGGTTTGTCCTT	0.453000													48	123					0	0	0.003610	0	0
SYT15	83849	broad.mit.edu	37	10	46965844	46965844	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:46965844G>A	ENST00000374323.3	-	4	1439	c.852C>T	c.(850-852)tcC>tcT	p.S284S	SYT15_ENST00000374321.4_Silent_p.S231S|SYT15_ENST00000374325.3_Silent_p.S231S|SYT15_ENST00000503753.1_Silent_p.S231S|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	231	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGTGGTAGACGGAGAACTTCA	0.617000													6	43					0	0	0.001168	0	0
UNC79	57578	broad.mit.edu	37	14	94038393	94038393	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94038393C>T	ENST00000553484.1	+	15	2063	c.1909C>T	c.(1909-1911)Cca>Tca	p.P637S	UNC79_ENST00000256339.4_Missense_Mutation_p.P460S|UNC79_ENST00000393151.2_Missense_Mutation_p.P637S|UNC79_ENST00000555664.1_Missense_Mutation_p.P637S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	637						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AACAGAAGTCCCAGATAATCA	0.398000													14	26					0	0	0.004990	0	0
DSCAM	1826	broad.mit.edu	37	21	42080586	42080586	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:42080586G>A	ENST00000400454.1	-	2	632	c.155C>T	c.(154-156)cCt>cTt	p.P52L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	52	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTCACAGGAGGGATGCCTGC	0.597000													44	136					0	0	0.002522	0	0
MEOX1	4222	broad.mit.edu	37	17	41720979	41720979	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:41720979C>A	ENST00000318579.4	-	2	938	c.519G>T	c.(517-519)aaG>aaT	p.K173N	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.K58N|MEOX1_ENST00000329168.3_Intron	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	173						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCGTCCTCTCCTTGCGGGCTT	0.582000													13	30					7.93312e-07	1.17231e-06	0.002450	1	0
AGTR1	185	broad.mit.edu	37	3	148459199	148459199	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:148459199G>A	ENST00000542281.1	+	4	823	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AGTR1_ENST00000418473.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000461609.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000474935.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000404754.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000475347.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000402260.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000349243.3_Missense_Mutation_p.R126Q|AGTR1_ENST00000497524.1_Missense_Mutation_p.R126Q	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	126					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGCATTGATCGATACCTGGCT	0.507000													24	145					0	0	0.003330	0	0
ATHL1	80162	broad.mit.edu	37	11	293704	293704	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:293704C>T	ENST00000409548.2	+	10	1706	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	ATHL1_ENST00000409479.1_Missense_Mutation_p.P558S|ATHL1_ENST00000409655.1_Missense_Mutation_p.P283S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	531					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGACGTCCCCCCAGGGCCC	0.622000													47	89					0	0	0.003610	0	0
RNF149	284996	broad.mit.edu	37	2	101911607	101911607	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:101911607G>A	ENST00000295317.3	-	2	604	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	166	PA.					integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TCTTCCTTTTGGATAGCTAAT	0.393000													6	44					0	0	0.001984	0	0
EPC2	26122	broad.mit.edu	37	2	149528412	149528412	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:149528412T>A	ENST00000258484.6	+	9	1316	c.1282T>A	c.(1282-1284)Ttg>Atg	p.L428M		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	428					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTGGCAGATTTGGATAAGTT	0.398000													27	75					0	0	0.006320	0	0
ZNF90	7643	broad.mit.edu	37	19	20215074	20215074	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:20215074C>T	ENST00000418063.2	+	2	142	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	10	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAGATGTGGCCATAGAATTCT	0.418000													28	42					0	0	0.003755	0	0
KCTD13	253980	broad.mit.edu	37	16	29923187	29923187	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:29923187G>A	ENST00000568000.1	-	4	1507	c.504_splice	c.e4-1	p.P169_splice		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	169					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CTTCACCACGGGCTGGCGGGG	0.677000													20	38					0	0	0.003330	0	0
CSMD2	114784	broad.mit.edu	37	1	34128492	34128492	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34128492G>A	ENST00000373381.4	-	26	4429	c.4253C>T	c.(4252-4254)tCa>tTa	p.S1418L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S291L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1378	Sushi 8.					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)				GCACAGACCTGAAAATTGAAT	0.572000													22	125					0	0	0.002780	0	0
KHSRP	8570	broad.mit.edu	37	19	6418802	6418802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:6418802G>A	ENST00000398148.3	-	8	783	c.691C>T	c.(691-693)Cag>Tag	p.Q231*		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	231	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTGCCGTTCTGGCCCCCGTTG	0.642000													31	35					0	0	0.002836	0	0
ORC6	23594	broad.mit.edu	37	16	46726457	46726457	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:46726457G>A	ENST00000566860.1	+	2	499	c.212_splice	c.e2+1	p.S71_splice	ORC6_ENST00000219097.2_Splice_Site_p.S120_splice|ORC6_ENST00000568364.2_Splice_Site_p.S120_splice			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	120					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						ATACTAAAAAGGTATGGGGCA	0.448000													34	62					0	0	0.002096	0	0
GUCA1C	9626	broad.mit.edu	37	3	108639360	108639360	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:108639360A>T	ENST00000261047.3	-	2	409	c.277T>A	c.(277-279)Tta>Ata	p.L93I	GUCA1C_ENST00000471108.1_Missense_Mutation_p.L93I|GUCA1C_ENST00000393963.3_Missense_Mutation_p.L93I	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	93	EF-hand 3.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TACCATTTTAATTTTTGCTCC	0.318000													14	43					0	0	0.004007	0	0
OPHN1	4983	broad.mit.edu	37	X	67283898	67283898	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:67283898G>A	ENST00000355520.5	-	21	2597	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	652	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCCTGCTTGGGGACTTCCTCC	0.562000													40	29					0	0	0.006999	0	0
SPEF2	79925	broad.mit.edu	37	5	35792480	35792480	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:35792480G>A	ENST00000440995.2	+	31	4471	c.4471G>A	c.(4471-4473)Gat>Aat	p.D1491N	SPEF2_ENST00000303129.4_Missense_Mutation_p.D293N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D1496N|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1496					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATTCTGATCGATTTGGTGAC	0.358000													20	47					0	0	0.001523	0	0
TERT	7015	broad.mit.edu	37	5	1280441	1280441	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:1280441C>T	ENST00000310581.5	-	4	1839	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	TERT_ENST00000296820.5_Silent_p.K594K|TERT_ENST00000334602.6_Silent_p.K594K|TERT_ENST00000508104.2_Silent_p.K594K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	594					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTGCACCCTCTTCAAGTGCT	0.632000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				7	39					0	0	0.001984	0	0
CNR1	1268	broad.mit.edu	37	6	88854075	88854075	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:88854075G>A	ENST00000537554.1	-	2	4481	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	CNR1_ENST00000549716.1_Missense_Mutation_p.R246C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.R307C|CNR1_ENST00000549890.1_Missense_Mutation_p.R307C|CNR1_ENST00000369499.2_Missense_Mutation_p.R307C|CNR1_ENST00000428600.2_Missense_Mutation_p.R307C|CNR1_ENST00000468898.1_Missense_Mutation_p.R274C|CNR1_ENST00000369501.2_Missense_Mutation_p.R307C	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	307					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.R307C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGAATCATGCGGACGGCGTGG	0.547000													26	31					0	0	0.005443	0	0
CYLC2	1539	broad.mit.edu	37	9	105767023	105767023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:105767023G>A	ENST00000374798.3	+	4	297	c.227G>A	c.(226-228)tGg>tAg	p.W76*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.W76*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	76	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAACCATTATGGATGTACCGT	0.388000													15	20					0	0	0.004990	0	0
EHBP1	23301	broad.mit.edu	37	2	63220725	63220725	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:63220725C>T	ENST00000263991.5	+	19	3489	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	EHBP1_ENST00000405015.3_Missense_Mutation_p.P932S|EHBP1_ENST00000431489.1_Missense_Mutation_p.P932S|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.P968S|EHBP1_ENST00000354487.3_Missense_Mutation_p.P968S	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1003						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTTAGAAATCCTGTTGTGTT	0.368000													17	38					0	0	0.004990	0	0
DAXX	1616	broad.mit.edu	37	6	33286918	33286918	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33286918C>T	ENST00000374542.5	-	7	2223	c.2019G>A	c.(2017-2019)ttG>ttA	p.L673L	DAXX_ENST00000414083.2_Silent_p.L598L|DAXX_ENST00000266000.6_Silent_p.L673L	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	673	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CCAAGGAAGCCAAGGGGGAAG	0.542000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								96	138					0	0	0.003610	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101452462	101452462	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:101452462C>T	ENST00000554693.2	+	0	972				SNORD114-25_ENST00000363742.1_RNA																							ACTCTGAGGTCCGTCACAAAC	0.373000													31	72					0	0	0.002836	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													3	26					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768484	77768484	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:77768484C>T	ENST00000521891.2	+	10	9775	c.9327C>T	c.(9325-9327)ctC>ctT	p.L3109L	ZFHX4_ENST00000518282.1_Silent_p.L3083L|ZFHX4_ENST00000050961.6_Silent_p.L3064L|ZFHX4_ENST00000455469.2_Silent_p.L3064L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3064	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTCCTTCTCCCCGGAATGA	0.527000										HNSCC(33;0.089)			19	38					0	0	0.008871	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537283	5537283	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5537283C>T	ENST00000380184.1	-	1	652	c.389G>A	c.(388-390)gGa>gAa	p.G130E	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	130										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCTGCTGTTTCCTTTGGTGTT	0.532000													30	60					0	0	0.001786	0	0
KMT2C	58508	broad.mit.edu	37	7	151835979	151835979	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:151835979G>A	ENST00000355193.2	-	59	14934	c.14716C>T	c.(14716-14718)Cat>Tat	p.H4906Y	KMT2C_ENST00000485655.2_Missense_Mutation_p.H54Y|KMT2C_ENST00000262189.6_Missense_Mutation_p.H4849Y					lysine (K)-specific methyltransferase 2C																		GCACACGAATGGTTGATATAC	0.403000													34	101					0	0	0.004289	0	0
SGMS1	259230	broad.mit.edu	37	10	52086980	52086980	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:52086980G>A	ENST00000361781.2	-	8	1685	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SGMS1_ENST00000429490.1_Silent_p.F73F	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	248					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GAGAACAGTTGAAATGCATAC	0.423000													11	43					0	0	0.000978	0	0
DSG1	1828	broad.mit.edu	37	18	28923481	28923481	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:28923481G>A	ENST00000257192.4	+	12	1968	c.1756G>A	c.(1756-1758)Gtt>Att	p.V586I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	586					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	p.V586F(1)		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)			CTTTGAGCCTGTTCCCGAATG	0.483000													10	99					0	0	0.006214	0	0
ETV1	2115	broad.mit.edu	37	7	13975376	13975376	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:13975376G>A	ENST00000343495.5	-	7	1195	c.457C>T	c.(457-459)Cca>Tca	p.P153S	ETV1_ENST00000405192.2_Missense_Mutation_p.P171S|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000430479.1_Missense_Mutation_p.P171S|ETV1_ENST00000420159.2_Missense_Mutation_p.P113S|ETV1_ENST00000242066.5_Missense_Mutation_p.P153S|ETV1_ENST00000403527.1_Missense_Mutation_p.P131S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.P185S|ETV1_ENST00000405218.2_Missense_Mutation_p.P171S|ETV1_ENST00000403685.1_Missense_Mutation_p.P153S			P50549	ETV1_HUMAN	ets variant 1	171					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACTGCGATGGAGGGAGGTGA	0.512000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								78	225					0	0	0.003610	0	0
SQRDL	58472	broad.mit.edu	37	15	45981393	45981393	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:45981393C>T	ENST00000260324.7	+	9	1659	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	SQRDL_ENST00000568606.1_Silent_p.L425L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	425							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GATGCCTTTCCTGTATTGGAA	0.468000													29	82					0	0	0.008361	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283947	43283947	+	RNA	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:43283947T>C	ENST00000511537.1	-	0	988					NR_033868.1																						CACTCTGTGGTTCATAAGCCA	0.448000													3	15					0	0	0.000248	0	0
NLGN2	57555	broad.mit.edu	37	17	7318839	7318839	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7318839C>T	ENST00000302926.2	+	6	1120	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	NLGN2_ENST00000575301.1_Silent_p.I349I	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	349					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCTACCACATCGCCTTTGGGC	0.607000													10	55					0	0	0.008291	0	0
RBP3	5949	broad.mit.edu	37	10	48390452	48390452	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:48390452C>T	ENST00000224600.4	-	1	539	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	142	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGCTCAGCACCTCCTGGCCCG	0.642000													33	80					0	0	0.003271	0	0
FAT4	79633	broad.mit.edu	37	4	126370225	126370225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:126370225G>A	ENST00000394329.3	+	9	8067	c.8054G>A	c.(8053-8055)cGa>cAa	p.R2685Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R983Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2685	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2685Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTCCCCTCGAAAAATACTT	0.348000													31	106					0	0	0.003755	0	0
STAG3	10734	broad.mit.edu	37	7	99802728	99802728	+	Silent	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:99802728C>A	ENST00000426455.1	+	28	3459	c.3052C>A	c.(3052-3054)Cga>Aga	p.R1018R	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Silent_p.R1018R|STAG3_ENST00000394018.2_Silent_p.R960R|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1018					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.R1018R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTTTCCCCCCGACTCTTCCA	0.547000													8	287					0.00307968	0.00452151	0.003080	1	0
EYA1	2138	broad.mit.edu	37	8	72229866	72229866	+	Silent	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:72229866T>A	ENST00000340726.3	-	7	1116	c.477A>T	c.(475-477)ggA>ggT	p.G159G	EYA1_ENST00000388743.2_Silent_p.G158G|EYA1_ENST00000388742.4_Silent_p.G159G|EYA1_ENST00000303824.7_Silent_p.G153G|EYA1_ENST00000388741.2_Silent_p.G125G|EYA1_ENST00000419131.1_Silent_p.G154G|EYA1_ENST00000388740.3_Silent_p.G126G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	159					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATCCTGTCTGTCCAGGTGACT	0.458000													52	148					0	0	0.003610	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102837652	102837652	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:102837652G>A	ENST00000312132.4	-	0	3519																											AGCATATCAAGGAAGCCATAA	0.378000													19	35					0	0	0.001882	0	0
DUOX2	50506	broad.mit.edu	37	15	45389470	45389470	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:45389470C>T	ENST00000389039.6	-	29	4198	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	DUOX2_ENST00000603300.1_Silent_p.E1271E			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1271	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCACGCTGATCTCCACCTTCT	0.587000													30	76					0	0	0.002096	0	0
ABCA13	154664	broad.mit.edu	37	7	48619965	48619965	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:48619965C>T	ENST00000435803.1	+	56	14524	c.14500C>T	c.(14500-14502)Cct>Tct	p.P4834S	ABCA13_ENST00000544596.1_Missense_Mutation_p.P564S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4834	ABC transporter 2.				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						GCAGTGCATCCCTGAGGTAAA	0.532000													8	9					0	0	0.006214	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854298	12854298	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:12854298G>A	ENST00000332296.7	+	3	625	c.522G>A	c.(520-522)agG>agA	p.R174R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	174										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTACCAAAGGAGAGGTTTAG	0.418000													44	385					0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20533638	20533638	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:20533638G>A	ENST00000504154.1	+	17	1897	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SLIT2_ENST00000503837.1_Missense_Mutation_p.E545K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E541K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E553K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	549					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TACCGTGTTGGAAGCCACAGG	0.303000													12	45					0	0	0.001855	0	0
HIPK2	28996	broad.mit.edu	37	7	139415944	139415944	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:139415944G>A	ENST00000406875.3	-	2	984	c.890C>T	c.(889-891)cCc>cTc	p.P297L	HIPK2_ENST00000342645.6_Missense_Mutation_p.P297L|HIPK2_ENST00000428878.2_Missense_Mutation_p.P297L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	297	Interaction with DAXX.|Protein kinase.				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)					GTATTTGAGGGGCAAGGGGCT	0.483000													40	83					0	0	0.007835	0	0
CCDC158	339965	broad.mit.edu	37	4	77290760	77290760	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:77290760C>T	ENST00000388914.3	-	10	1318	c.1166G>A	c.(1165-1167)aGg>aAg	p.R389K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	389										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCCTTCTCCCTTTTGTGTAG	0.433000													14	56					0	0	0.004007	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459020	45459020	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:45459020C>T	ENST00000548424.1	+	0	448																											TTAAAGAAATCCTCAAAGTCC	0.448000													10	19					0	0	0.006214	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724706	113724706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:113724706G>A	ENST00000295878.3	-	10	1663	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	KIAA1407_ENST00000545063.1_Missense_Mutation_p.S337F	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	506										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTCTGAAGGGAACCCTGCAA	0.547000													69	105					0	0	0.003610	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396105	101396105	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:101396105C>T	ENST00000372774.3	-	3	448	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.E67K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	67	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCCTGCTTTTCCTGGCTTCCC	0.617000													39	45					0	0	0.006230	0	0
RGS9	8787	broad.mit.edu	37	17	63206615	63206615	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:63206615C>T	ENST00000449996.3	+	17	1362	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	RGS9_ENST00000443584.3_Silent_p.L430L|RGS9_ENST00000262406.9_Silent_p.L433L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	433					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTCCACCCTCCCTTTTATGC	0.577000													28	93					0	0	0.002445	0	0
SF3A1	10291	broad.mit.edu	37	22	30741175	30741175	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:30741175T>G	ENST00000215793.7	-	4	552	c.398A>C	c.(397-399)cAa>cCa	p.Q133P	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	133					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TACTTGGGCTTGGACCTAAGA	0.572000													67	122					0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110814731	110814731	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:110814731G>A	ENST00000375820.4	-	48	4429	c.4308C>T	c.(4306-4308)ccC>ccT	p.P1436P	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1436	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGTGCCTGGGGGCCCCATGG	0.512000													46	130					0	0	0.003610	0	0
CNTN1	1272	broad.mit.edu	37	12	41337963	41337963	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:41337963G>A	ENST00000551295.2	+	14	1791	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	CNTN1_ENST00000547849.1_Silent_p.R558R|CNTN1_ENST00000547702.1_Silent_p.R558R|CNTN1_ENST00000348761.2_Silent_p.R547R|CNTN1_ENST00000360099.3_Silent_p.R558R|CNTN1_ENST00000347616.1_Silent_p.R558R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	558	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACTACCAGAGGAATTTTATGG	0.353000													10	52					0	0	0.000978	0	0
GPR124	25960	broad.mit.edu	37	8	37691640	37691640	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:37691640C>T	ENST00000315215.7	+	11	1965	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	GPR124_ENST00000412232.2_Silent_p.I534I			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	746					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGCACATCTCAGTGGTAA	0.697000													12	36					0	0	0.001855	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242035	24242035	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:24242035C>T	ENST00000256412.4	+	1	238	c.18C>T	c.(16-18)tcC>tcT	p.S6S	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR|ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	6					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTGGGATCTCCCAGCTACCTG	0.458000													11	22					0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237754065	237754065	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:237754065G>A	ENST00000366574.2	+	31	4250	c.3933G>A	c.(3931-3933)gcG>gcA	p.A1311A	RYR2_ENST00000542537.1_Silent_p.A1295A|RYR2_ENST00000360064.6_Silent_p.A1309A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1311	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGAGTGCGCGGAGGTCTTCT	0.502000													58	158					0	0	0.003610	0	0
DDX43	55510	broad.mit.edu	37	6	74115538	74115538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:74115538C>T	ENST00000370336.4	+	6	945	c.787C>T	c.(787-789)Caa>Taa	p.Q263*	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	263						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCAGGTTTTCAAAAGCCAAC	0.388000													18	22					0	0	0.001523	0	0
GALNT2	2590	broad.mit.edu	37	1	230381829	230381829	+	Silent	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:230381829A>G	ENST00000366672.4	+	8	822	c.750A>G	c.(748-750)tcA>tcG	p.S250S	GALNT2_ENST00000541865.1_Silent_p.S160S|GALNT2_ENST00000543760.1_Silent_p.S212S	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	250					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGTTGTGTCACCCATCATCG	0.463000													35	105					0	0	0.002522	0	0
HDAC9	9734	broad.mit.edu	37	7	18674361	18674361	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:18674361C>T	ENST00000406451.3	+	8	1049	c.899C>T	c.(898-900)gCc>gTc	p.A300V	HDAC9_ENST00000428307.2_Missense_Mutation_p.A256V|HDAC9_ENST00000406072.1_Missense_Mutation_p.A287V|HDAC9_ENST00000405010.3_Missense_Mutation_p.A300V|HDAC9_ENST00000441542.2_Missense_Mutation_p.A303V|HDAC9_ENST00000432645.2_Missense_Mutation_p.A300V|HDAC9_ENST00000401921.1_Missense_Mutation_p.A259V|HDAC9_ENST00000524023.1_Missense_Mutation_p.A223V|HDAC9_ENST00000456174.2_Missense_Mutation_p.A272V|HDAC9_ENST00000417496.2_Missense_Mutation_p.A298V	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	300	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACCCCTCATGCCGAGGTAAGA	0.408000													6	6					0	0	0.004482	0	0
DCN	1634	broad.mit.edu	37	12	91545456	91545456	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:91545456C>T	ENST00000052754.5	-	7	1361	c.860G>A	c.(859-861)gGg>gAg	p.G287E	DCN_ENST00000420120.2_Missense_Mutation_p.G178E|DCN_ENST00000425043.1_Missense_Mutation_p.G140E|DCN_ENST00000547568.2_Missense_Mutation_p.G140E|DCN_ENST00000441303.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G178E|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G287E|DCN_ENST00000552962.1_Missense_Mutation_p.G287E|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	287					organ morphogenesis	extracellular space		p.G287V(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCTGCCAGCCCACCAGGTAC	0.502000													17	31					0	0	0.006122	0	0
STK10	6793	broad.mit.edu	37	5	171533651	171533651	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:171533651G>T	ENST00000176763.5	-	6	1104	c.761C>A	c.(760-762)cCt>cAt	p.P254H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	254	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCGTGGGAGGGTCCGACTT	0.657000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	36					6.40141e-05	9.41872e-05	0.000978	1	0
FMNL3	91010	broad.mit.edu	37	12	50045849	50045849	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:50045849G>A	ENST00000335154.5	-	14	1703	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	FMNL3_ENST00000550488.1_Silent_p.G490G|FMNL3_ENST00000293590.5_Silent_p.G490G|FMNL3_ENST00000352151.5_Silent_p.G439G	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	490					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCTGCAGGGCCTACTCTGG	0.617000													12	18					0	0	0.001368	0	0
ITGAD	3681	broad.mit.edu	37	16	31427542	31427542	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:31427542C>T	ENST00000389202.2	+	19	2341	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	764					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCTCCCCTTCGAGAAGAACT	0.498000													3	12					0	0	0.004672	0	0
STPG1	90529	broad.mit.edu	37	1	24685076	24685076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:24685076G>A	ENST00000374409.1	-	9	1216	c.962C>T	c.(961-963)tCc>tTc	p.S321F	GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000003583.8_Missense_Mutation_p.S274F|STPG1_ENST00000337248.4_Missense_Mutation_p.S321F|STPG1_ENST00000440416.1_Missense_Mutation_p.S274F|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		GTAGAGGAAGGACTGCTTTCC	0.557000													8	76					0	0	0.004482	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205566	36205566	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:36205566G>A	ENST00000392197.2	+	3	356	c.38G>A	c.(37-39)gGc>gAc	p.G13D	ZBTB32_ENST00000262630.3_Missense_Mutation_p.G13D			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	13					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCCCTATGGCTCTGATCGG	0.597000													53	82					0	0	0.003610	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38586224	38586224	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:38586224C>T	ENST00000399703.5	-	12	2577	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	735										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTCAGTTGGTCTGTATTTAAG	0.294000													5	6					0	0	0.001984	0	0
POF1B	79983	broad.mit.edu	37	X	84570718	84570718	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:84570718C>T	ENST00000262753.4	-	8	1022	c.877G>A	c.(877-879)Gat>Aat	p.D293N	POF1B_ENST00000373145.3_Missense_Mutation_p.D293N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	293							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTTACCTCATCTGTAGACTCA	0.284000													17	16					0	0	0.001523	0	0
BLM	641	broad.mit.edu	37	15	91354460	91354460	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:91354460C>T	ENST00000355112.3	+	21	4018	c.3900C>T	c.(3898-3900)agC>agT	p.S1300S	BLM_ENST00000560509.1_Silent_p.S1169S|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1300					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGGGATAAGCCTGTCCAGCA	0.478000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				100	291					0	0	0.003610	0	0
CELSR1	9620	broad.mit.edu	37	22	46930151	46930151	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:46930151G>A	ENST00000262738.3	-	1	2916	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R973W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	973	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGACTGCCCCGATCCACAGCC	0.582000													37	76					0	0	0.007835	0	0
CLCN1	1180	broad.mit.edu	37	7	143048886	143048886	+	Missense_Mutation	SNP	C	C	T	rs80356706	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:143048886C>T	ENST00000343257.2	+	23	2882	c.2795C>T	c.(2794-2796)cCa>cTa	p.P932L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	932					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACCCCTGTGCCATCTCCTTCC	0.637000													8	35					0	0	0.004482	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615589	115615589	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115615589G>A	ENST00000369516.2	-	2	140	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TSPAN2_ENST00000369515.2_Missense_Mutation_p.R37W|TSPAN2_ENST00000369514.2_Missense_Mutation_p.R37W	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	37						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTCCGAACCGAAACCATAGT	0.507000													13	57					0	0	0.001855	0	0
TJAP1	93643	broad.mit.edu	37	6	43472767	43472767	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:43472767C>A	ENST00000372444.2	+	11	1251	c.818C>A	c.(817-819)cCc>cAc	p.P273H	TJAP1_ENST00000372452.1_Missense_Mutation_p.P273H|TJAP1_ENST00000372449.1_Missense_Mutation_p.P283H|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.P273H|TJAP1_ENST00000372445.5_Missense_Mutation_p.P283H|TJAP1_ENST00000438588.2_Missense_Mutation_p.P283H|TJAP1_ENST00000259751.1_Missense_Mutation_p.P273H	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	283	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTGGCAGCCCCACCCCACAA	0.662000													33	118					2.80507e-11	4.1678e-11	0.002445	1	0
GNB3	2784	broad.mit.edu	37	12	6954844	6954844	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:6954844C>T	ENST00000229264.3	+	10	1199	c.794C>T	c.(793-795)tCc>tTc	p.S265F	GNB3_ENST00000435982.2_Missense_Mutation_p.S264F|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	265					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATCTGCTTCTCCCACGAGAGC	0.597000													62	150					0	0	0.003610	0	0
CCDC155	147872	broad.mit.edu	37	19	49912493	49912493	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:49912493G>A	ENST00000447857.3	+	14	1304	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	367						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGGCTGGACCGAGCTGCTACC	0.617000													12	25					0	0	0.003163	0	0
CHL1	10752	broad.mit.edu	37	3	424225	424225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:424225G>A	ENST00000256509.2	+	18	2689	c.2047G>A	c.(2047-2049)Gga>Aga	p.G683R	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.G667R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	667	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGTCCAAGGAAAGAAAAC	0.433000													33	86					0	0	0.002445	0	0
MECOM	2122	broad.mit.edu	37	3	168834494	168834494	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:168834494G>A	ENST00000464456.1	-	7	1802	c.602C>T	c.(601-603)tCa>tTa	p.S201L	MECOM_ENST00000494292.1_Missense_Mutation_p.S389L|MECOM_ENST00000460814.1_Missense_Mutation_p.S201L|MECOM_ENST00000468789.1_Missense_Mutation_p.S201L|MECOM_ENST00000264674.3_Missense_Mutation_p.S266L|MECOM_ENST00000433243.2_Missense_Mutation_p.S202L|MECOM_ENST00000392736.3_Missense_Mutation_p.S201L|MECOM_ENST00000472280.1_Missense_Mutation_p.S202L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCAAAGGTTTGAAAACTGAGT	0.388000													35	54					0	0	0.004878	0	0
ZNF99	7652	broad.mit.edu	37	19	22940944	22940944	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:22940944C>T	ENST00000397104.3	-	5	1493	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G	ZNF99_ENST00000596209.1_Silent_p.G589G					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGGTTTCTCCCCAGTATGAA	0.358000													13	10					0	0	0.003163	0	0
RNF112	7732	broad.mit.edu	37	17	19316290	19316290	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:19316290C>T	ENST00000461366.1	+	4	636	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	141							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTGCTGGTTCGCATCAATGC	0.647000													5	19					0	0	0.000602	0	0
MYT1	4661	broad.mit.edu	37	20	62842672	62842672	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:62842672A>T	ENST00000536311.1	+	8	1769	c.1405A>T	c.(1405-1407)Aag>Tag	p.K469*	MYT1_ENST00000360149.4_Nonsense_Mutation_p.K171*|MYT1_ENST00000328439.1_Nonsense_Mutation_p.K469*			Q01538	MYT1_HUMAN	myelin transcription factor 1	469					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGTCCCCACAAGGATAGGAT	0.572000													20	48					0	0	0.002780	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954470	12954470	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:12954470C>T	ENST00000235347.4	-	3	892	c.813G>A	c.(811-813)atG>atA	p.M271I		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	271										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATATAAAGCATCTGGGGGT	0.468000													30	227					0	0	0.002222	0	0
OR2W1	26692	broad.mit.edu	37	6	29012196	29012196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:29012196C>T	ENST00000377175.1	-	1	821	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATAATAGTTCCATAGAACATA	0.448000													18	95					0	0	0.006122	0	0
SMURF2	64750	broad.mit.edu	37	17	62594596	62594596	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62594596G>A	ENST00000262435.9	-	3	291	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	35	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTTAGCAAATGGATCAGGAAG	0.343000													14	66					0	0	0.002450	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													7	49					0	0	0.004482	0	0
EGR2	1959	broad.mit.edu	37	10	64573365	64573365	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:64573365C>T	ENST00000242480.3	-	2	1358	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	EGR2_ENST00000439032.1_Missense_Mutation_p.E345K|EGR2_ENST00000411732.1_Missense_Mutation_p.E295K	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	345					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.E345Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCGCAGCCTTCTGCTGGGCAC	0.642000													21	76					0	0	0.002299	0	0
C9orf43	257169	broad.mit.edu	37	9	116185748	116185748	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:116185748C>T	ENST00000288462.4	+	7	1072	c.626C>T	c.(625-627)tCc>tTc	p.S209F	C9orf43_ENST00000374165.1_Missense_Mutation_p.S209F	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	209										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGGGCTCAATCCGAAGCGTTA	0.502000													25	36					0	0	0.005443	0	0
C11orf82	220042	broad.mit.edu	37	11	82643115	82643115	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:82643115C>T	ENST00000533655.1	+	6	947	c.735C>T	c.(733-735)ttC>ttT	p.F245F	C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.F245F|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_5'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	245					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CACTTGAATTCACTTGCATTG	0.388000													34	80					0	0	0.003755	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209591	140209591	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140209591G>A	ENST00000529310.1	+	1	2029	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.667000													14	64					0	0	0.004990	0	0
ROR2	4920	broad.mit.edu	37	9	94486143	94486143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:94486143G>A	ENST00000375708.3	-	9	2831	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	878	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGTGTTGGAGGGGGCCGTGGT	0.647000													59	66					0	0	0.003610	0	0
KLC1	3831	broad.mit.edu	37	14	104124103	104124103	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:104124103T>C	ENST00000389744.4	+	3	751	c.482T>C	c.(481-483)aTt>aCt	p.I161T	KLC1_ENST00000555836.1_Missense_Mutation_p.I161T|KLC1_ENST00000557575.1_Missense_Mutation_p.I161T|KLC1_ENST00000380038.3_Missense_Mutation_p.I161T|KLC1_ENST00000554280.1_Missense_Mutation_p.I161T|KLC1_ENST00000348520.6_Missense_Mutation_p.I161T|KLC1_ENST00000347839.6_Missense_Mutation_p.I161T|KLC1_ENST00000334553.6_Missense_Mutation_p.I161T|KLC1_ENST00000445352.4_Missense_Mutation_p.I161T|KLC1_ENST00000246489.7_Missense_Mutation_p.I161T|KLC1_ENST00000557450.1_Missense_Mutation_p.I161T|KLC1_ENST00000553286.1_Missense_Mutation_p.I161T|KLC1_ENST00000452929.2_Missense_Mutation_p.I161T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.I333T			Q07866	KLC1_HUMAN	kinesin light chain 1	161					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GATGACGACATTTCCCCATCC	0.428000													10	15					0	0	0.006214	0	0
KCNU1	157855	broad.mit.edu	37	8	36691136	36691136	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:36691136T>C	ENST00000399881.3	+	11	1208	c.1171T>C	c.(1171-1173)Tct>Cct	p.S391P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	391	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AACGTTCATTTCTGGATCTGC	0.403000													14	45					0	0	0.004990	0	0
NRXN1	9378	broad.mit.edu	37	2	50723137	50723137	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:50723137C>T	ENST00000404971.1	-	16	4435	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	NRXN1_ENST00000402717.3_Missense_Mutation_p.M984I|NRXN1_ENST00000401710.1_Start_Codon_SNP_p.M1I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M992I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M984I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M992I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M992I|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	992	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCTTGATATCATCACGTTGT	0.438000													5	34					0	0	0.001984	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:14534953C>T	ENST00000358970.5	-	4	863	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000													10	62					0	0	0.001523	0	0
CAMTA2	23125	broad.mit.edu	37	17	4872115	4872115	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:4872115C>T	ENST00000361571.5	-	22	3954		c.e22-1		CAMTA2_ENST00000572543.1_Splice_Site|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000414043.3_Splice_Site|CAMTA2_ENST00000348066.3_Splice_Site|CAMTA2_ENST00000358183.4_Splice_Site|CAMTA2_ENST00000381311.5_Splice_Site	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2						cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCCCTCATCCTGCAGAGAGA	0.627000													19	81					0	0	0.007413	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032202	46032202	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:46032202C>T	ENST00000334662.2	+	1	207	c.185C>T	c.(184-186)aCc>aTc	p.T62I	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	62	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCTGCTGTACCCCTAGCTGC	0.672000													16	37					0	0	0.003163	0	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:96761854G>A	ENST00000295266.4	+	1	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483000													23	72					0	0	0.002780	0	0
LARS2	23395	broad.mit.edu	37	3	45589003	45589003	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:45589003A>T	ENST00000415258.1	+	21	2834	c.2693A>T	c.(2692-2694)aAc>aTc	p.N898I	LARS2_ENST00000414984.1_Missense_Mutation_p.N855I|LARS2_ENST00000265537.3_Missense_Mutation_p.N898I			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	898					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCCCTCATCAACTTCCTGGTG	0.557000													31	108					0	0	0.002445	0	0
NMBR	4829	broad.mit.edu	37	6	142399800	142399800	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:142399800G>A	ENST00000258042.1	-	2	803	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	221					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GTGGTATGAGGAAATAGACCA	0.353000													28	47					0	0	0.004656	0	0
ALPK3	57538	broad.mit.edu	37	15	85411676	85411676	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:85411676G>A	ENST00000258888.5	+	14	5880	c.5713G>A	c.(5713-5715)Ggc>Agc	p.G1905S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1905					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGGCCCAGGGCATGCGGTA	0.602000													11	25					0	0	0.008291	0	0
SCN7A	6332	broad.mit.edu	37	2	167328849	167328849	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:167328849C>T	ENST00000409855.1	-	5	676	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	184					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						ACGCTGAAATCGAGCCAGTTC	0.353000													10	14					0	0	0.000978	0	0
MYH4	4622	broad.mit.edu	37	17	10366196	10366196	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:10366196G>A	ENST00000255381.2	-	11	1104	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	332	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGCCATCAGCTCTTCCTGG	0.433000													21	81					0	0	0.002780	0	0
VWA9	81556	broad.mit.edu	37	15	65892154	65892154	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:65892154G>A	ENST00000395644.4	-	4	779	c.444C>T	c.(442-444)ttC>ttT	p.F148F	VWA9_ENST00000313182.2_Silent_p.F148F|VWA9_ENST00000567744.1_Silent_p.F184F|VWA9_ENST00000431261.2_Silent_p.F69F|VWA9_ENST00000442903.3_Silent_p.F112F|VWA9_ENST00000569491.1_Silent_p.F99F|VWA9_ENST00000420799.2_Silent_p.F91F					von Willebrand factor A domain containing 9																		ACTTAGATGGGAAAGGAAAAG	0.408000													30	61					0	0	0.002445	0	0
ITK	3702	broad.mit.edu	37	5	156675899	156675899	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:156675899C>T	ENST00000422843.3	+	16	1825	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	558	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCAAAATCCCGTATGAAAAC	0.493000			T	SYK	peripheral T-cell lymphoma								121	248					0	0	0.003610	0	0
DICER1	23405	broad.mit.edu	37	14	95560482	95560482	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:95560482G>T	ENST00000526495.1	-	26	5398	c.5107C>A	c.(5107-5109)Cgc>Agc	p.R1703S	DICER1_ENST00000527414.1_Missense_Mutation_p.R1703S|DICER1_ENST00000343455.3_Missense_Mutation_p.R1703S|DICER1_ENST00000393063.1_Missense_Mutation_p.R1703S|DICER1_ENST00000541352.1_Missense_Mutation_p.R1703S|DICER1_ENST00000556045.1_Missense_Mutation_p.R601S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1703	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1703C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATTCTAAGCGCTGGTAACAA	0.517000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				23	92					3.28513e-13	4.89175e-13	0.003954	1	0
FAM170A	340069	broad.mit.edu	37	5	118970375	118970375	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:118970375G>A	ENST00000515256.1	+	3	1104	c.932G>A	c.(931-933)aGg>aAg	p.R311K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	311						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTTGGCCTGAGGAGATCCTGG	0.537000													17	94					0	0	0.004990	0	0
CDC27	996	broad.mit.edu	37	17	45232057	45232057	+	Missense_Mutation	SNP	G	G	A	rs150116111		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:45232057G>A	ENST00000066544.3	-	8	1031	c.938C>T	c.(937-939)aCc>aTc	p.T313I	CDC27_ENST00000446365.2_Missense_Mutation_p.T252I|CDC27_ENST00000527547.1_Missense_Mutation_p.T313I|CDC27_ENST00000531206.1_Missense_Mutation_p.T313I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	313					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGGGCTCCGGTGGATGGCAC	0.378000													9	17					0	0	0.008291	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261542	54261542	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:54261542C>T	ENST00000408621.1	+	0	57					NR_031696.1																						GAAAAGAAATCGCTTCCCTTT	0.433000													28	38					0	0	0.006320	0	0
PDGFRB	5159	broad.mit.edu	37	5	149501582	149501582	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:149501582C>T	ENST00000261799.4	-	16	2674	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	735	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCGTCGCTCTCCCCGGTCA	0.567000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	40					0	0	0.000248	0	0
SAMD12	401474	broad.mit.edu	37	8	119593128	119593128	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:119593128G>A	ENST00000409003.4	-	2	146	c.18C>T	c.(16-18)ctC>ctT	p.L6L	SAMD12_ENST00000314727.4_Silent_p.L6L	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	6										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AACCACAGTGGAGAGCTAGGA	0.393000													8	26					0	0	0.004482	0	0
OR7G1	125962	broad.mit.edu	37	19	9226256	9226256	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9226256G>A	ENST00000293614.1	-	1	183	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	OR7G1_ENST00000541538.1_Missense_Mutation_p.L62F			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TTAAAGAGAAGGAAGTACATG	0.488000													44	64					0	0	0.003214	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962799	73962799	+	Silent	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:73962799T>C	ENST00000373468.1	-	3	2244	c.1593A>G	c.(1591-1593)gtA>gtG	p.V531V	KIAA2022_ENST00000055682.5_Silent_p.V531V			Q5QGS0	K2022_HUMAN	KIAA2022	531					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTACGGGTTACTTTTCTTC	0.423000													18	17					0	0	0.004990	0	0
GPX6	257202	broad.mit.edu	37	6	28474188	28474188	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:28474188T>G	ENST00000361902.1	-	3	309	c.260A>C	c.(259-261)gAg>gCg	p.E87A	GPX6_ENST00000474923.1_Missense_Mutation_p.E87A|GPX6_ENST00000483058.1_5'UTR	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	87					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTTCAGCTCCTCCTGTAGTGC	0.453000													17	82					0	0	0.004990	0	0
PCDH18	54510	broad.mit.edu	37	4	138449647	138449647	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:138449647C>T	ENST00000344876.4	-	3	3111	c.2725G>A	c.(2725-2727)Gga>Aga	p.G909R	PCDH18_ENST00000510305.1_Missense_Mutation_p.G120R|PCDH18_ENST00000412923.2_Missense_Mutation_p.G908R|PCDH18_ENST00000507846.1_Missense_Mutation_p.G688R|PCDH18_ENST00000511115.1_Missense_Mutation_p.G89R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	909	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCATCTGTGAGA	0.418000													57	161					0	0	0.003610	0	0
OR52A1	23538	broad.mit.edu	37	11	5172693	5172693	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:5172693G>A	ENST00000380367.1	-	2	1324	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358000													19	122					0	0	0.002299	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544367	89544367	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:89544367C>T	ENST00000468494.1	-	0	286																											GCCGCTGAATCTGTCTGGGAC	0.507000													63	120					0	0	0.003610	0	0
CPT1A	1374	broad.mit.edu	37	11	68552315	68552315	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:68552315C>T	ENST00000265641.5	-	10	1285	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	CPT1A_ENST00000540367.1_Silent_p.E377E|CPT1A_ENST00000539743.1_Silent_p.E377E|CPT1A_ENST00000376618.2_Silent_p.E377E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	377					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCAGCCTGGCCTCCCCGGGCT	0.652000													19	49					0	0	0.001523	0	0
TPTE	7179	broad.mit.edu	37	21	10906979	10906979	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:10906979G>A	ENST00000298232.7	-	23	1895	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S	TPTE_ENST00000361285.4_Missense_Mutation_p.P528S|TPTE_ENST00000342420.5_Missense_Mutation_p.P490S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	528	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATCTGATGGATAAATTCTC	0.368000													7	44					0	0	0.003080	0	0
PHF2	5253	broad.mit.edu	37	9	96428317	96428317	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:96428317C>T	ENST00000359246.4	+	16	2529	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	721					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GTCACGAAGCCAAAGCTGGAC	0.622000													19	29					0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9070705	9070705	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9070705G>A	ENST00000397910.4	-	3	16944	c.16741C>T	c.(16741-16743)Ccc>Tcc	p.P5581S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5583	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						GTGTCCCAGGGAAGGATACCC	0.522000													72	98					0	0	0.003610	0	0
PCDH20	64881	broad.mit.edu	37	13	61986425	61986425	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:61986425C>G	ENST00000409186.1	-	5	3912	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	PCDH20_ENST00000409204.4_Missense_Mutation_p.E603Q			Q8N6Y1	PCD20_HUMAN	protocadherin 20	576	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGTACTTTTCTTTCTCTTCT	0.443000													31	80					0	0	0.007291	0	0
FREM2	341640	broad.mit.edu	37	13	39263503	39263503	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:39263503C>T	ENST00000280481.7	+	1	2238	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	674					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATTTAGAGTCCAGGATAACC	0.562000													35	90					0	0	0.004289	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237633	140237633	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140237633C>T	ENST00000307360.5	+	1	2000	c.2000C>T	c.(1999-2001)tCg>tTg	p.S667L	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTTGTGTCGCTTGTGGAG	0.667000													7	22					0	0	0.001984	0	0
RET	5979	broad.mit.edu	37	10	43595906	43595906	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:43595906G>A	ENST00000355710.3	+	2	305		c.e2-1		RET_ENST00000340058.5_Splice_Site	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene						homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACTTCCCACAGTGGCATTGGG	0.488000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				23	43					0	0	0.005443	0	0
CHERP	10523	broad.mit.edu	37	19	16643489	16643489	+	Silent	SNP	C	C	T	rs1043447		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:16643489C>T	ENST00000546361.2	-	5	745	c.594G>A	c.(592-594)cgG>cgA	p.R198R	CHERP_ENST00000198939.6_Silent_p.R198R|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	198	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGATGCGGTTCCGGAGGTGGC	0.627000													25	34					0	0	0.002096	0	0
ZNF239	8187	broad.mit.edu	37	10	44053482	44053482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:44053482G>A	ENST00000306006.6	-	2	698	c.46C>T	c.(46-48)Cga>Tga	p.R16*	ZNF239_ENST00000426961.1_Nonsense_Mutation_p.R16*|ZNF239_ENST00000535642.1_Nonsense_Mutation_p.R16*|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Nonsense_Mutation_p.R16*	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTTCCCCTCGATGATTCACA	0.463000													11	29					0	0	0.000978	0	0
KLHL13	90293	broad.mit.edu	37	X	117035815	117035815	+	Silent	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:117035815T>A	ENST00000371876.1	-	5	3729	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	KLHL13_ENST00000371878.1_Silent_p.G436G|KLHL13_ENST00000262820.3_Silent_p.G487G|KLHL13_ENST00000540167.1_Silent_p.G471G|KLHL13_ENST00000539496.1_Silent_p.G490G|KLHL13_ENST00000541812.1_Silent_p.G471G|KLHL13_ENST00000371882.1_Silent_p.G436G|KLHL13_ENST00000545703.1_Silent_p.G445G|KLHL13_ENST00000469946.1_Silent_p.G436G			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	487					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACATCACTCCTCCATACACAG	0.353000													24	20					0	0	0.003954	0	0
PGAP1	80055	broad.mit.edu	37	2	197777762	197777762	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:197777762G>A	ENST00000354764.3	-	4	607	c.493C>T	c.(493-495)Cca>Tca	p.P165S	PGAP1_ENST00000409475.1_Missense_Mutation_p.P165S|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.P123S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	165					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACACTTTTTGGAGCAAATTCT	0.323000													17	35					0	0	0.007413	0	0
IFT57	55081	broad.mit.edu	37	3	107885736	107885736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:107885736G>A	ENST00000264538.3	-	8	1193	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	316					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CGATATTCTTGAACCAAATTC	0.378000													20	36					0	0	0.001523	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634820	70634820	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:70634820G>A	ENST00000381269.2	-	2	1073	c.320C>T	c.(319-321)tCt>tTt	p.S107F	SLC8A3_ENST00000534137.1_Missense_Mutation_p.S107F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S107F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S107F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S107F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	107					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTCTCTTGAGAGGTGATGAC	0.473000													18	36					0	0	0.006122	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161320	40161320	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:40161320C>T	ENST00000325157.6	-	6	1377	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	376										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCCTTCACTCGGTCAAATAT	0.443000													34	60					0	0	0.002836	0	0
CDHR3	222256	broad.mit.edu	37	7	105672847	105672847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:105672847G>A	ENST00000542731.1	+	19	2470	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	CDHR3_ENST00000317716.9_Missense_Mutation_p.E788K|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.E700K|CDHR3_ENST00000470188.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	788					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGTGACCGGGGAAACATATGA	0.453000													3	19					0	0	0.004672	0	0
TIMM8A	1678	broad.mit.edu	37	X	100601521	100601521	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:100601521G>A	ENST00000372902.3	-	2	791	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)	87					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding			endometrium(1)|lung(1)	2						AACTGGCTTGGATTTCTGGGT	0.448000													74	47					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103427818	103427818	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:103427818C>T	ENST00000358392.2	-	40	3381	c.3064G>A	c.(3064-3066)Gat>Aat	p.D1022N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D971N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D894N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D1010N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1010	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCTGGATCACCCTAAAGA	0.388000													32	71					0	0	0.002836	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542604	182542604	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:182542604G>A	ENST00000295108.3	-	2	1441	c.984C>T	c.(982-984)atC>atT	p.I328I	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	328					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCTATGGGGATCTCGCAGC	0.507000													176	433					0	0	0.003610	0	0
ADAM29	11086	broad.mit.edu	37	4	175898831	175898831	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:175898831G>A	ENST00000359240.3	+	5	2825	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	ADAM29_ENST00000445694.1_Missense_Mutation_p.E719K|ADAM29_ENST00000514159.1_Missense_Mutation_p.E719K|ADAM29_ENST00000404450.4_Missense_Mutation_p.E719K|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	719					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E719K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAAGAAGAGGAAAAAATTCA	0.408000													18	55					0	0	0.007413	0	0
SCAND3	114821	broad.mit.edu	37	6	28540229	28540229	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:28540229C>T	ENST00000452236.2	-	4	4054	c.3437G>A	c.(3436-3438)aGa>aAa	p.R1146K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1146					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgtagaaattctgtttttcca	0.308000													31	58					0	0	0.002836	0	0
CXorf57	55086	broad.mit.edu	37	X	105855710	105855710	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:105855710G>A	ENST00000372548.4	+	1	509	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V134I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	134										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AATTTCCAGGGTCTCATGTCT	0.438000													56	60					0	0	0.003610	0	0
RBM11	54033	broad.mit.edu	37	21	15592040	15592040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:15592040C>T	ENST00000400577.3	+	2	262	c.253C>T	c.(253-255)Cga>Tga	p.R85*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	85	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTGCAGTATCGATTTGGTAG	0.373000													9	23					0	0	0.008291	0	0
SI	6476	broad.mit.edu	37	3	164714367	164714367	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:164714367C>T	ENST00000264382.3	-	40	4710	c.4648G>A	c.(4648-4650)Gca>Aca	p.A1550T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1550	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGATAAAATGCTCCAAGTTGC	0.328000										HNSCC(35;0.089)			12	54					0	0	0.001368	0	0
DLGAP2	9228	broad.mit.edu	37	8	1575016	1575016	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:1575016C>T	ENST00000421627.2	+	4	1447	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	517					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TACATGAGGGCCGTCAGCACC	0.657000													3	12					0	0	0.004672	0	0
CDX4	1046	broad.mit.edu	37	X	72667348	72667348	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:72667348C>T	ENST00000373514.2	+	1	259	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	87						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GAGCGTGTATCCTGGGCCGTC	0.612000													16	16					0	0	0.008871	0	0
CEP164	22897	broad.mit.edu	37	11	117253607	117253607	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:117253607A>T	ENST00000278935.3	+	14	1820	c.1673A>T	c.(1672-1674)gAt>gTt	p.D558V	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	558	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGGCAGAGGATCCTGAGGAG	0.647000													17	37					0	0	0.004007	0	0
BANK1	55024	broad.mit.edu	37	4	102994868	102994868	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:102994868G>A	ENST00000504592.1	+	20	2699	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	BANK1_ENST00000508653.1_Missense_Mutation_p.E643K|BANK1_ENST00000322953.4_Missense_Mutation_p.E776K|BANK1_ENST00000428908.1_Missense_Mutation_p.E643K|BANK1_ENST00000444316.2_Missense_Mutation_p.E746K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	776					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGTTGAAAAGGAATTTGGTTT	0.328000													17	52					0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4919429	4919429	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:4919429C>T	ENST00000433855.1	+	1	1088	c.222C>T	c.(220-222)gtC>gtT	p.V74V	KCNA6_ENST00000280684.3_Silent_p.V74V	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	74						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCCGGCGAGTCCGCTTCTTCG	0.627000										HNSCC(72;0.22)			25	65					0	0	0.002780	0	0
FILIP1	27145	broad.mit.edu	37	6	76022244	76022244	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:76022244C>T	ENST00000393004.2	-	5	3525	c.3304G>A	c.(3304-3306)Gag>Aag	p.E1102K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E1102K|FILIP1_ENST00000370020.1_Missense_Mutation_p.E1003K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1102				E -> G (in Ref. 3; CAD89912).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTGGAAACCTCCTTTTCGGCT	0.532000													88	102					0	0	0.003610	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:57327691G>A	ENST00000326441.9	-	10	2482	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H583Y|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H581Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H707Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000													32	29					0	0	0.001786	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431408	69431408	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69431408C>T	ENST00000317746.2	-	2	797	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	252					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTCAGCTTTCCCCATTGTCTC	0.358000													24	67					0	0	0.005443	0	0
CRB2	286204	broad.mit.edu	37	9	126133213	126133213	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:126133213C>T	ENST00000373631.3	+	7	1882	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	CRB2_ENST00000373629.2_Silent_p.F295F|CRB2_ENST00000359999.3_Silent_p.F627F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	627	EGF-like 10.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACTCATTTCCGTTGCGACT	0.622000													26	28					0	0	0.006320	0	0
KRT36	8689	broad.mit.edu	37	17	39643395	39643395	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:39643395C>T	ENST00000393986.2	-	7	1077	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	KRT36_ENST00000328119.6_Missense_Mutation_p.E339K			O76013	KRT36_HUMAN	keratin 36	339	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCCTCGGTTTCGGCCAGGGTG	0.622000													40	81					0	0	0.003214	0	0
LAMA3	3909	broad.mit.edu	37	18	21478738	21478738	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:21478738C>T	ENST00000313654.9	+	45	5891	c.5650C>T	c.(5650-5652)Cat>Tat	p.H1884Y	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.H275Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.H275Y|LAMA3_ENST00000399516.3_Missense_Mutation_p.H1884Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1884	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTTCAAATCATGGATCAAA	0.358000													25	44					0	0	0.007291	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142198029	142198029	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:142198029G>A	ENST00000471935.1	-	0	40																											GGGAAGGATGGGAGCTTTGCC	0.577000													21	59					0	0	0.001523	0	0
KLF10	7071	broad.mit.edu	37	8	103662565	103662565	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:103662565G>A	ENST00000395884.3	-	4	2107	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	KLF10_ENST00000285407.6_Missense_Mutation_p.S413F	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	413					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGTTCATCAGAACGGGCAAA	0.468000													11	41					0	0	0.008291	0	0
KRT25	147183	broad.mit.edu	37	17	38907543	38907543	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:38907543G>C	ENST00000312150.4	-	4	765	c.705C>G	c.(703-705)aaC>aaG	p.N235K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCACGTTCACGTTGCCTCCAG	0.547000													10	36					0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238275613	238275613	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:238275613C>T	ENST00000295550.4	-	11	5669	c.5217G>A	c.(5215-5217)ctG>ctA	p.L1739L	COL6A3_ENST00000353578.4_Silent_p.L1533L|COL6A3_ENST00000347401.3_Silent_p.L1538L|COL6A3_ENST00000346358.4_Silent_p.L1539L|COL6A3_ENST00000409809.1_Silent_p.L1533L|COL6A3_ENST00000472056.1_Silent_p.L1132L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1739	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCGCTGGTCCAGGCGGCTGC	0.587000													21	38					0	0	0.002780	0	0
KCNH4	23415	broad.mit.edu	37	17	40323852	40323852	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:40323852G>A	ENST00000264661.3	-	7	1481	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	KCNH4_ENST00000607371.1_Silent_p.I383I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	383					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCCGGCGCCCGATGACATACC	0.612000													31	61					0	0	0.002836	0	0
AGRN	375790	broad.mit.edu	37	1	982254	982254	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:982254G>A	ENST00000379370.2	+	19	3355	c.3305G>A	c.(3304-3306)aGg>aAg	p.R1102K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1102					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGTCGAGAGGGCTTCCTGC	0.697000													3	9					0	0	0.004672	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063765	247063765	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247063765G>A	ENST00000366508.1	-	9	1365	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S384L|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S375L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	375	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.S375L(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTGTCAGGCGATAGAGCTGG	0.328000													29	48					0	0	0.007291	0	0
GHRHR	2692	broad.mit.edu	37	7	31008693	31008693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:31008693G>A	ENST00000326139.2	+	3	222	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	59					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTGCGACCTGGGATGGGCTG	0.622000													5	11					0	0	0.000602	0	0
CD7	924	broad.mit.edu	37	17	80274553	80274553	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:80274553G>A	ENST00000584284.1	-	2	468	c.387C>T	c.(385-387)gtC>gtT	p.V129V	CD7_ENST00000578509.1_Silent_p.V29V|CD7_ENST00000312648.3_Silent_p.V129V|CD7_ENST00000583376.1_Silent_p.V29V			P09564	CD7_HUMAN	CD7 molecule	129	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CTGTCACCAGGACCAGGGTGC	0.652000													18	115					0	0	0.008871	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759225	121759225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:121759225G>A	ENST00000261367.7	+	6	2362	c.934G>A	c.(934-936)Gat>Aat	p.D312N	SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.D265N|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D312N|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D312N|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D265N|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	265					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACATTTAGTGATCCTCATGG	0.473000													8	34					0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	61831288	61831288	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:61831288G>A	ENST00000280772.1	-	37	9542	c.9351C>T	c.(9349-9351)atC>atT	p.I3117I	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		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						CCTGACTTATGATTTTTTTTA	0.403000													41	119					0	0	0.008740	0	0
RAB35	11021	broad.mit.edu	37	12	120535014	120535014	+	Silent	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:120535014A>C	ENST00000432953.2	-	2	224	c.36T>G	c.(34-36)ggT>ggG	p.G12G	RAB35_ENST00000229340.5_3'UTR|RAB35_ENST00000534951.1_3'UTR			Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	0					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TGGGGGAGGGACCGCAGTGCA	0.537000													28	70					0	0	0.002096	0	0
LGALS9	3965	broad.mit.edu	37	17	25974374	25974374	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:25974374C>T	ENST00000395473.2	+	10	2305	c.837C>T	c.(835-837)cgC>cgT	p.R279R	LGALS9_ENST00000302228.5_Silent_p.R247R|LGALS9_ENST00000310394.5_Silent_p.R235R|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	279	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTGTGGTCCGCAACACCCAGA	0.592000													14	61					0	0	0.002450	0	0
COL12A1	1303	broad.mit.edu	37	6	75844525	75844525	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:75844525T>C	ENST00000322507.8	-	32	5750	c.5441A>G	c.(5440-5442)aAg>aGg	p.K1814R	COL12A1_ENST00000416123.2_Missense_Mutation_p.K1814R|COL12A1_ENST00000345356.6_Missense_Mutation_p.K650R|COL12A1_ENST00000483888.2_Missense_Mutation_p.K1814R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1814	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTGTCTGGCTTCAGTTTCTG	0.493000													67	61					0	0	0.003610	0	0
CXADR	1525	broad.mit.edu	37	21	18933732	18933732	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:18933732C>T	ENST00000284878.7	+	6	1519	c.771C>T	c.(769-771)atC>atT	p.I257I	CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400169.1_Silent_p.I257I|CXADR_ENST00000306618.10_Silent_p.I216I	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	257					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GTCTTATCATCTTTTGCTGTC	0.358000													10	23					0	0	0.008291	0	0
KIF13A	63971	broad.mit.edu	37	6	17772169	17772169	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:17772169G>A	ENST00000378814.5	-	36	4406	c.4407C>T	c.(4405-4407)gcC>gcT	p.A1469A	KIF13A_ENST00000378816.5_Silent_p.A1482A|KIF13A_ENST00000378843.2_Silent_p.A1469A|KIF13A_ENST00000259711.6_Silent_p.A1482A|KIF13A_ENST00000378826.2_Silent_p.A1482A	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1482					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGCTTCCAGGGCTATCCTTT	0.468000													216	289					0	0	0.003610	0	0
BTN2A1	11120	broad.mit.edu	37	6	26460007	26460007	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:26460007C>T	ENST00000429381.1	+	3	593	c.381C>T	c.(379-381)ttC>ttT	p.F127F	BTN2A1_ENST00000541522.1_Silent_p.F66F|BTN2A1_ENST00000312541.5_Silent_p.F127F|BTN2A1_ENST00000469185.1_Silent_p.F127F			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	127	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GCTGTTACTTCCAAGAAGGCA	0.537000													25	33					0	0	0.003954	0	0
KCNH5	27133	broad.mit.edu	37	14	63174948	63174948	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:63174948C>T	ENST00000322893.7	-	11	2513	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	749					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACGCTGGTTCCGGTGATGGAG	0.537000													36	56					0	0	0.002836	0	0
PDE11A	50940	broad.mit.edu	37	2	178936809	178936809	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:178936809T>A	ENST00000286063.5	-	1	673	c.356A>T	c.(355-357)aAa>aTa	p.K119I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	119					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCTTAGCTCTTTCTGAGAAGC	0.622000									Primary Pigmented Nodular Adrenocortical Disease, Familial				29	63					0	0	0.002096	0	0
DNAH8	1769	broad.mit.edu	37	6	38851680	38851680	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:38851680G>A	ENST00000359357.3	+	54	7768	c.7514G>A	c.(7513-7515)cGa>cAa	p.R2505Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2722Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2469Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGGATAAGCGAATTGGAAGC	0.363000													39	60					0	0	0.006230	0	0
KCNH2	3757	broad.mit.edu	37	7	150648537	150648537	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:150648537G>A	ENST00000392968.2	-	5	2776	c.1657_splice	c.e5+1	p.G552_splice	KCNH2_ENST00000262186.5_Splice_Site_p.G648_splice|KCNH2_ENST00000330883.4_Splice_Site_p.G308_splice|KCNH2_ENST00000430723.3_Splice_Site_p.G648_splice			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	648			L -> S (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CACACTCACAGCCAATGAGCA	0.612000													42	106					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:13920716C>T	ENST00000265104.4	-	6	775	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	224	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224Q(2)		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)					GTCACACTTTCGAAGGTTCAC	0.393000									Kartagener syndrome				22	43					0	0	0.002780	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669797	24669797	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:24669797G>A	ENST00000376454.3	+	3	384		c.e3-1		KIAA1217_ENST00000376462.1_Splice_Site|KIAA1217_ENST00000458595.1_Splice_Site|KIAA1217_ENST00000430453.2_Splice_Site|KIAA1217_ENST00000376452.3_Splice_Site	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217						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						GCCTTTTGCAGACAAGGAGCC	0.423000													25	75					0	0	0.003954	0	0
STRIP1	85369	broad.mit.edu	37	1	110593614	110593614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:110593614C>T	ENST00000369795.3	+	19	2015	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	STRIP1_ENST00000369796.1_Missense_Mutation_p.L570F	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CTGGAGGAACCTCTTTTCTTG	0.473000													24	49					0	0	0.003954	0	0
PIGF	5281	broad.mit.edu	37	2	46842248	46842248	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:46842248G>A	ENST00000281382.6	-	2	226	c.56C>T	c.(55-57)tCa>tTa	p.S19L	PIGF_ENST00000306465.4_Missense_Mutation_p.S19L|PIGF_ENST00000495933.1_5'UTR	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	19					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAGGATAATTGAAAATATGCA	0.348000													29	70					0	0	0.002445	0	0
ERAP2	64167	broad.mit.edu	37	5	96215612	96215612	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:96215612C>T	ENST00000437043.3	+	2	934	c.223C>T	c.(223-225)Cct>Tct	p.P75S	ERAP2_ENST00000510309.1_Missense_Mutation_p.P75S|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.P75S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	75					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGTGGTCATTCCTCTCCATTA	0.488000													7	37					0	0	0.003080	0	0
STC1	6781	broad.mit.edu	37	8	23702439	23702439	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:23702439G>A	ENST00000290271.2	-	4	871	c.588C>T	c.(586-588)atC>atT	p.I196I	STC1_ENST00000524323.1_Silent_p.I127I	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	196					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTGTCTGCAGGATGTGGAAGA	0.537000													39	91					0	0	0.006230	0	0
SCN4A	6329	broad.mit.edu	37	17	62018757	62018757	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:62018757G>A	ENST00000578147.1	-	24	4961	c.4885C>T	c.(4885-4887)Ccc>Tcc	p.P1629S	SCN4A_ENST00000435607.1_Missense_Mutation_p.P1629S			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1629					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTGGCGTCGGGGTCGAACTTC	0.552000													9	51					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	185970529	185970529	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:185970529C>T	ENST00000271588.4	+	27	4398	c.4169C>T	c.(4168-4170)cCc>cTc	p.P1390L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1390L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1390	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTCCATCTCCCATCATTATG	0.388000													13	53					0	0	0.002450	0	0
ALMS1	7840	broad.mit.edu	37	2	73784428	73784428	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:73784428T>G	ENST00000264448.6	+	14	10268	c.10157T>G	c.(10156-10158)gTg>gGg	p.V3386G	ALMS1_ENST00000409009.1_Missense_Mutation_p.V3344G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3386					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAAGGGCAGTGACTGAGGCT	0.423000													36	61					0	0	0.004289	0	0
FLNB	2317	broad.mit.edu	37	3	58094938	58094938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:58094938G>A	ENST00000357272.4	+	14	2253	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	FLNB_ENST00000493452.1_Missense_Mutation_p.M527I|FLNB_ENST00000490882.1_Missense_Mutation_p.M696I|FLNB_ENST00000419752.2_Missense_Mutation_p.M527I|FLNB_ENST00000429972.2_Missense_Mutation_p.M696I|FLNB_ENST00000358537.3_Missense_Mutation_p.M696I|FLNB_ENST00000348383.5_Missense_Mutation_p.M696I|FLNB_ENST00000295956.4_Missense_Mutation_p.M696I			O75369	FLNB_HUMAN	filamin B, beta	696					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATCCAGATGAAGAACCGGA	0.557000													24	48					0	0	0.005443	0	0
GPR139	124274	broad.mit.edu	37	16	20043519	20043519	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:20043519G>A	ENST00000570682.1	-	2	900	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	200						integral to membrane|plasma membrane		p.F200L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGTTCAAGATGAAGAAGATGG	0.507000													17	43					0	0	0.007413	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651577	121651577	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:121651577C>T	ENST00000393386.2	+	12	2888	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	826					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCCTCTGCTTCCTTCAGTAGT	0.458000													69	173					0	0	0.003610	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518270	45518270	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:45518270C>T	ENST00000291574.4	+	21	3376	c.3201C>T	c.(3199-3201)ccC>ccT	p.P1067P		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1067					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATCTTTCCCCCTTCGGGAA	0.488000													45	104					0	0	0.002222	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26671537	26671537	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:26671537C>T	ENST00000226225.2	+	7	1129	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	TNFAIP1_ENST00000544907.2_Silent_p.L184L	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	288					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GACCTTTGAACTGCGGGACCG	0.617000													11	51					0	0	0.001368	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427444	80427444	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:80427444G>A	ENST00000265361.3	-	11	1656	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	SEMA3C_ENST00000536800.1_Silent_p.S217S|SEMA3C_ENST00000419255.2_Silent_p.S365S|SEMA3C_ENST00000544525.1_Silent_p.S383S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	365	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGCCCTGATAGGAAATCAGCT	0.398000													12	45					0	0	0.001855	0	0
RPIA	22934	broad.mit.edu	37	2	89049589	89049589	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:89049589C>T	ENST00000283646.4	+	9	985	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	310					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGAAGCCTTTCTGTTGACCCT	0.532000													17	49					0	0	0.008871	0	0
CCDC92	80212	broad.mit.edu	37	12	124421944	124421944	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:124421944T>G	ENST00000545135.1	-	3	3902	c.606A>C	c.(604-606)gaA>gaC	p.E202D	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.E202D|CCDC92_ENST00000238156.3_Missense_Mutation_p.E219D			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	219										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGTAGACCTCTTCAAATTCCG	0.597000													36	73					0	0	0.003755	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184519	72184519	+	Silent	SNP	C	C	T	rs146909225	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:72184519C>T	ENST00000537465.1	-	5	782	c.624G>A	c.(622-624)ggG>ggA	p.G208G	PMFBP1_ENST00000355636.6_Silent_p.G63G|PMFBP1_ENST00000237353.10_Silent_p.G208G			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	208										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GACCCATGATCCCGCCGAGTT	0.527000													70	143					0	0	0.003610	0	0
OBSL1	23363	broad.mit.edu	37	2	220432081	220432081	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:220432081G>A	ENST00000404537.1	-	4	1807	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	OBSL1_ENST00000265318.4_Missense_Mutation_p.S584F|OBSL1_ENST00000373873.4_Missense_Mutation_p.S584F|OBSL1_ENST00000373876.1_Missense_Mutation_p.S584F|OBSL1_ENST00000603926.1_Missense_Mutation_p.S584F|OBSL1_ENST00000289656.3_Missense_Mutation_p.S171F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	584	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTCACCCTCGGAGGGCACACA	0.622000													8	21					0	0	0.004482	0	0
GABRB3	2562	broad.mit.edu	37	15	26806142	26806142	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:26806142C>T	ENST00000541819.2	-	9	1287	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	GABRB3_ENST00000400188.3_Silent_p.Q268Q|GABRB3_ENST00000311550.5_Silent_p.Q339Q|GABRB3_ENST00000545868.1_Silent_p.Q254Q|GABRB3_ENST00000299267.4_Silent_p.Q339Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	339					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGCTTCTTCTGCCTTTGAG	0.507000													46	110					0	0	0.002222	0	0
CSMD2	114784	broad.mit.edu	37	1	34100903	34100903	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34100903G>A	ENST00000373381.4	-	31	5173	c.4997C>T	c.(4996-4998)tCg>tTg	p.S1666L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S539L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1626	CUB 10.					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)				CACTCCGTCCGAACCCACATA	0.527000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	0.000248	0	0
RGPD3	653489	broad.mit.edu	37	2	107040948	107040948	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:107040948C>T	ENST00000409886.3	-	20	3562	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1159K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1159	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGCTTGAATTCTTCAGCCAGC	0.438000													64	117					0	0	0.003610	0	0
HMGB4	127540	broad.mit.edu	37	1	34329957	34329957	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:34329957T>G	ENST00000522796.1	+	4	2070	c.165T>G	c.(163-165)caT>caG	p.H55Q	HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.H55Q|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	55						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTCAAAGCATGAAAAGGCCA	0.423000													50	87					0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156815025	156815025	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:156815025G>A	ENST00000368195.3	-	12	2676	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	760					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGATCTCGAAATCCGAGC	0.692000													7	20					0	0	0.001984	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715016	65715016	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:65715016G>A	ENST00000532620.1	+	0	951							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCCCCAGGAGGGGGTCGATCT	0.632000													10	90					0	0	0.001368	0	0
PANX2	56666	broad.mit.edu	37	22	50615991	50615991	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:50615991G>A	ENST00000395842.2	+	2	850	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	PANX2_ENST00000159647.5_Missense_Mutation_p.V284M	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	284					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCTCCCGTCCGTGCAACTGCA	0.657000													10	47					0	0	0.008291	0	0
AOX1	316	broad.mit.edu	37	2	201467038	201467038	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:201467038C>T	ENST00000374700.2	+	6	709	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	156					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GATACAGGCCCATAATTGATG	0.453000													45	117					0	0	0.003610	0	0
LTF	4057	broad.mit.edu	37	3	46497310	46497310	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:46497310C>T	ENST00000231751.4	-	4	770	c.475G>A	c.(475-477)Ggt>Agt	p.G159S	LTF_ENST00000417439.1_Missense_Mutation_p.G159S|LTF_ENST00000426532.2_Missense_Mutation_p.G115S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	159	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCAGGTGGACCCGTCCAATTC	0.562000													18	40					0	0	0.008871	0	0
DPRX	503834	broad.mit.edu	37	19	54137815	54137815	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:54137815G>A	ENST00000376650.1	+	2	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433000													40	60					0	0	0.002522	0	0
KIF1B	23095	broad.mit.edu	37	1	10364266	10364266	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:10364266G>A	ENST00000377093.4	+	21	3176	c.3023G>A	c.(3022-3024)gGg>gAg	p.G1008E	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008E	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAAGAAAAAGGGGGTAAAGGA	0.418000													52	120					0	0	0.003610	0	0
OR52L1	338751	broad.mit.edu	37	11	6007836	6007836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:6007836C>T	ENST00000332249.4	-	1	379	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCAATCTCGTGGGCATGA	0.537000													9	16					0	0	0.008291	0	0
DSG1	1828	broad.mit.edu	37	18	28934552	28934552	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:28934552C>A	ENST00000257192.4	+	15	2605	c.2393C>A	c.(2392-2394)cCa>cAa	p.P798Q	DSG1_ENST00000462981.2_Missense_Mutation_p.P157Q|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	798					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)			GGACACCCACCAATCTCCCCA	0.507000													10	108					4.68919e-08	6.93694e-08	0.008291	1	0
ZDBF2	57683	broad.mit.edu	37	2	207173765	207173765	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:207173765C>T	ENST00000374423.3	+	5	4899	c.4513C>T	c.(4513-4515)Cct>Tct	p.P1505S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1505							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTGATGTTCCTTTTCAAAT	0.413000													16	48					0	0	0.004990	0	0
DNAH8	1769	broad.mit.edu	37	6	38980014	38980014	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:38980014G>A	ENST00000359357.3	+	88	12998	c.12744G>A	c.(12742-12744)atG>atA	p.M4248I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M4212I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATAAAGATGGGCCATCTTA	0.338000													25	35					0	0	0.005443	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43815499	43815499	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:43815499C>T	ENST00000291532.3	-	2	983	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E94K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E10K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E10K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E10K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	10					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAGGGGGCTTCAACAGCAGGC	0.507000													10	49					0	0	0.000978	0	0
FTH1	2495	broad.mit.edu	37	11	61732270	61732270	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:61732270C>T	ENST00000273550.7	-	4	715	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.A91T|FTH1_ENST00000526640.1_Missense_Mutation_p.A131T|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	161					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GATTCGGGCGCTCCCATCTTG	0.498000													9	50					0	0	0.006214	0	0
EEF2K	29904	broad.mit.edu	37	16	22269960	22269960	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:22269960C>T	ENST00000263026.5	+	10	1649	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	392					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACCTTCGACTCTCTCCCTTCT	0.597000													17	68					0	0	0.006122	0	0
ALPK3	57538	broad.mit.edu	37	15	85411675	85411675	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:85411675G>A	ENST00000258888.5	+	14	5879	c.5712G>A	c.(5710-5712)caG>caA	p.Q1904Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1904					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAAGGCCCAGGGCATGCGGT	0.602000													12	24					0	0	0.000978	0	0
IP6K3	117283	broad.mit.edu	37	6	33694521	33694521	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:33694521C>T	ENST00000451316.1	-	5	1111	c.576G>A	c.(574-576)gaG>gaA	p.E192E	IP6K3_ENST00000293756.4_Silent_p.E192E	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	192					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCCGCTTGTTCTCTGGGTACT	0.607000													57	38					0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124646508	124646508	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:124646508C>T	ENST00000311075.3	-	2	420	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	128	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTGATTAATCCATCATTTGGA	0.433000													62	137					0	0	0.003610	0	0
PVRL1	5818	broad.mit.edu	37	11	119545951	119545951	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:119545951G>A	ENST00000264025.3	-	5	1451	c.921C>T	c.(919-921)aaC>aaT	p.N307N	PVRL1_ENST00000341398.2_Silent_p.N307N|PVRL1_ENST00000340882.2_Silent_p.N307N	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	307	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCAGGCTGTAGTTGATGGGTC	0.572000													24	73					0	0	0.002780	0	0
TIMP3	7078	broad.mit.edu	37	22	33255299	33255299	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:33255299T>A	ENST00000266085.6	+	5	872	c.571T>A	c.(571-573)Tac>Aac	p.Y191N	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	191			Y -> C (in SFD).		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GAAGGGCGGCTACTGCAGCTG	0.592000													14	56					0	0	0.002450	0	0
TTLL2	83887	broad.mit.edu	37	6	167754237	167754237	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:167754237A>T	ENST00000239587.5	+	3	937	c.849A>T	c.(847-849)gaA>gaT	p.E283D		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	283	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCCACGGAAAAGTTTGACC	0.403000													67	102					0	0	0.003610	0	0
OR10J5	127385	broad.mit.edu	37	1	159505559	159505559	+	Missense_Mutation	SNP	C	C	T	rs146863607		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:159505559C>T	ENST00000334857.2	-	1	283	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R80Q(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAAAAGCATTCGTGGCACAAT	0.428000													32	66					0	0	0.001786	0	0
MATN3	4148	broad.mit.edu	37	2	20205776	20205776	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:20205776G>A	ENST00000407540.3	-	2	581	c.519C>T	c.(517-519)gcC>gcT	p.A173A	MATN3_ENST00000421259.2_Silent_p.A173A	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	173	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTGTGAAGGCTTCGTCCA	0.567000													17	46					0	0	0.001882	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881884	228881884	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:228881884C>T	ENST00000392056.3	-	7	3732	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1229Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1229						cytoplasm	protein binding	p.R1229Q(2)		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)		CACTGGGGATCGCAGAGAAGG	0.567000													33	71					0	0	0.002096	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891277	18891277	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:18891277G>A	ENST00000317658.3	+	1	233	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCCTCCAGGGGAATTTGTAA	0.458000													35	81					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179606124	179606124	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:179606124G>A	ENST00000589042.1	-	48	12060	c.11836C>T	c.(11836-11838)Cca>Tca	p.P3946S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3583S|TTN_ENST00000591111.1_Missense_Mutation_p.P3629S|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P3708S|TTN_ENST00000342175.6_Missense_Mutation_p.P3775S|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3629							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)			CAGCGAATTGGTTTTAACTCC	0.478000													60	182					0	0	0.003610	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054272	95054272	+	Silent	SNP	C	C	T	rs1803280		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:95054272C>T	ENST00000329597.7	+	3	783	c.573C>T	c.(571-573)ctC>ctT	p.L191L	SERPINA5_ENST00000553780.1_Silent_p.L191L|SERPINA5_ENST00000554866.1_Silent_p.L191L|SERPINA5_ENST00000554276.1_Silent_p.L191L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	191					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTAAGAACCTCGATAGCAATG	0.458000													45	125					0	0	0.003610	0	0
SYCP1	6847	broad.mit.edu	37	1	115527450	115527450	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:115527450T>G	ENST00000369522.3	+	30	2904	c.2664T>G	c.(2662-2664)ttT>ttG	p.F888L	SYCP1_ENST00000369518.1_Missense_Mutation_p.F888L|SYCP1_ENST00000477590.1_Intron	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	888					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTTGAATTTGATATTAATT	0.244000													26	82					0	0	0.007291	0	0
CD86	942	broad.mit.edu	37	3	121828111	121828111	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:121828111G>A	ENST00000330540.2	+	5	819		c.e5-1		CD86_ENST00000393627.2_Splice_Site|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000469710.1_Splice_Site|CD86_ENST00000264468.5_Splice_Site	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule						interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTCATTTGTAGAGCTTGAGGA	0.443000													15	50					0	0	0.003163	0	0
PNN	5411	broad.mit.edu	37	14	39645288	39645288	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:39645288C>T	ENST00000216832.4	+	2	187	c.120C>T	c.(118-120)atC>atT	p.I40I	PNN_ENST00000556530.1_Silent_p.I40I|PNN_ENST00000553331.1_Silent_p.I40I	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	40	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		ACAGGCCCATCCAAGCCAGAT	0.423000													17	50					0	0	0.006122	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943662	9943662	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:9943662C>T	ENST00000396573.2	-	6	1588	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E270K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E427K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E427K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E427K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E427K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	427					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)	ACACACGTCTCGGTCAGGGGG	0.547000													17	72					0	0	0.008871	0	0
NLRP3	114548	broad.mit.edu	37	1	247588398	247588398	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:247588398G>A	ENST00000366497.2	+	4	2433	c.1653G>A	c.(1651-1653)ttG>ttA	p.L551L	NLRP3_ENST00000391827.2_Silent_p.L551L|NLRP3_ENST00000336119.3_Silent_p.L551L|NLRP3_ENST00000391828.3_Silent_p.L551L|NLRP3_ENST00000366496.2_Silent_p.L551L|NLRP3_ENST00000348069.2_Silent_p.L551L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	551					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGAGTCGTTTGAAGCTTCCCA	0.473000													13	30					0	0	0.001368	0	0
DOK1	1796	broad.mit.edu	37	2	74783058	74783058	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:74783058C>T	ENST00000233668.5	+	4	1161	c.492C>T	c.(490-492)gcC>gcT	p.A164A	DOK1_ENST00000340004.6_Intron|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Silent_p.A25A	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	164	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGACTGAGGCCGCCGAGCGCT	0.637000													25	64					0	0	0.006320	0	0
ING3	54556	broad.mit.edu	37	7	120610780	120610780	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:120610780C>T	ENST00000315870.5	+	10	1095	c.947C>T	c.(946-948)tCc>tTc	p.S316F	ING3_ENST00000431467.1_Missense_Mutation_p.S301F	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	316	Poly-Ser.				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					TCATCATCTTCCTCCTCCTCT	0.363000													9	44					0	0	0.008291	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3594945	3594945	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:3594945G>A	ENST00000550383.1	-	2	469	c.281C>T	c.(280-282)cCa>cTa	p.P94L	P2RX5_ENST00000345901.3_Missense_Mutation_p.P94L|P2RX5_ENST00000552276.1_Missense_Mutation_p.P94L|P2RX5_ENST00000552050.1_Missense_Mutation_p.P58L|P2RX5_ENST00000547178.1_Missense_Mutation_p.P94L|P2RX5_ENST00000435558.1_Missense_Mutation_p.P94L|P2RX5_ENST00000551178.1_Missense_Mutation_p.P94L|P2RX5_ENST00000225328.5_Missense_Mutation_p.P94L																							GACCTGGGCTGGAATGACGTA	0.617000													27	48					0	0	0.006320	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563949	176563949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:176563949C>A	ENST00000367662.3	+	3	2373	c.1209C>A	c.(1207-1209)tgC>tgA	p.C403*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.C403*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	403					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCATCTTGCCGCTCTTTGC	0.592000													24	89					1.55469e-16	2.32266e-16	0.003330	1	0
ELMO2	63916	broad.mit.edu	37	20	45017681	45017681	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:45017681G>A	ENST00000372176.1	-	7	626	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000290246.6_Missense_Mutation_p.S141F|ELMO2_ENST00000352077.2_Missense_Mutation_p.S141F|ELMO2_ENST00000439931.2_Missense_Mutation_p.S141F|ELMO2_ENST00000396391.1_Missense_Mutation_p.S141F|ELMO2_ENST00000488853.1_5'UTR			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	141					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACTCACTGGGACAAGAGCTT	0.483000													25	64					0	0	0.004656	0	0
STARD8	9754	broad.mit.edu	37	X	67942407	67942407	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:67942407C>T	ENST00000252336.6	+	11	2850	c.2478C>T	c.(2476-2478)gaC>gaT	p.D826D	STARD8_ENST00000374599.3_Silent_p.D906D|STARD8_ENST00000374597.3_Silent_p.D826D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	826	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATATCCAGGACCTGCTGCGTG	0.647000													7	14					0	0	0.004482	0	0
THSD7B	80731	broad.mit.edu	37	2	138033594	138033594	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:138033594G>A	ENST00000409968.1	+	12	2676	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R833K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R802K					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)		TTACAAACAAGAGGTATGATG	0.373000													15	30					0	0	0.002450	0	0
ARMC4	55130	broad.mit.edu	37	10	28276346	28276346	+	Silent	SNP	C	C	T	rs146041171		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:28276346C>T	ENST00000305242.5	-	3	443	c.351G>A	c.(349-351)ggG>ggA	p.G117G	ARMC4_ENST00000239715.3_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	117							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCTTCAACTTCCCAGTTTTGG	0.413000													14	50					0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152277516	152277516	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:152277516G>A	ENST00000368799.1	-	3	9881	c.9846C>T	c.(9844-9846)tcC>tcT	p.S3282S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3282	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACCAGAGGAAGTCTCTG	0.597000									Ichthyosis				168	390					0	0	0.003610	0	0
OR4A47	403253	broad.mit.edu	37	11	48510356	48510356	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:48510356G>A	ENST00000446524.1	+	1	88	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGCCAAGGAAAAATGTGA	0.363000													6	17					0	0	0.001168	0	0
CCT7	10574	broad.mit.edu	37	2	73477004	73477004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:73477004C>T	ENST00000539919.1	+	10	1269	c.898C>T	c.(898-900)Cga>Tga	p.R300*	CCT7_ENST00000540468.1_Nonsense_Mutation_p.R257*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.R344*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.R216*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.R244*|CCT7_ENST00000398422.2_Nonsense_Mutation_p.R140*	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	344					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGTGCTGGGTCGATGCCAGGT	0.577000													68	159					0	0	0.003610	0	0
GAS6	2621	broad.mit.edu	37	13	114526421	114526421	+	Missense_Mutation	SNP	G	G	A	rs144928601		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:114526421G>A	ENST00000357389.3	-	13	1861	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.A473V|GAS6_ENST00000450766.1_Missense_Mutation_p.A254V|GAS6_ENST00000418959.3_Missense_Mutation_p.A228V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.A527V			Q14393	GAS6_HUMAN	growth arrest-specific 6	570	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GAGGTCGGGGGCCCAGAGCGC	0.632000													23	50					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9049971	9049971	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:9049971G>A	ENST00000397910.4	-	5	31863	c.31660C>T	c.(31660-31662)Ccc>Tcc	p.P10554S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10556	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						GTTGTCCTGGGAAGAGCTGTG	0.488000													64	100					0	0	0.003610	0	0
CD5L	922	broad.mit.edu	37	1	157809178	157809178	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:157809178G>A	ENST00000368174.4	-	2	147	c.51C>T	c.(49-51)ttC>ttT	p.F17F	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	17					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTACCTAGGAATCCAGGTC	0.443000													31	85					0	0	0.006230	0	0
AXDND1	126859	broad.mit.edu	37	1	179363135	179363135	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:179363135G>A	ENST00000367618.3	+	10	1348	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.E321K	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	321										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCGCATTTTAGAAGAATTGTA	0.378000													32	100					0	0	0.002096	0	0
TRPM6	140803	broad.mit.edu	37	9	77353524	77353524	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:77353524G>A	ENST00000451710.3	-	35	5824	c.5587C>T	c.(5587-5589)Ctg>Ttg	p.L1863L	TRPM6_ENST00000376871.3_Silent_p.L696L|TRPM6_ENST00000376872.3_Silent_p.L814L|TRPM6_ENST00000360774.1_Silent_p.L1859L|TRPM6_ENST00000449912.2_Silent_p.L1854L|TRPM6_ENST00000361255.3_Silent_p.L1854L|TRPM6_ENST00000376864.4_Silent_p.L1863L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1859	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAACTTCCAGGAACCTGTTA	0.443000													10	25					0	0	0.008291	0	0
EYA2	2139	broad.mit.edu	37	20	45700823	45700823	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:45700823G>A	ENST00000327619.5	+	6	789		c.e6-1		EYA2_ENST00000357410.3_Splice_Site|EYA2_ENST00000317304.6_Splice_Site	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCTTCCCACAGGCACAACAGG	0.502000													20	20					0	0	0.008871	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563764	140563764	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140563764G>A	ENST00000361016.2	+	1	2785	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.697000													31	20					0	0	0.004289	0	0
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083																											AGCCAGCCGCGGCAGGGTCAG	0.637000													11	63					0	0	0.002450	0	0
DNAH3	55567	broad.mit.edu	37	16	21136655	21136655	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:21136655C>T	ENST00000261383.3	-	9	1244	c.1245G>A	c.(1243-1245)cgG>cgA	p.R415R	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.R415R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	415	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTGCTCCTTCCGTGAGGTAA	0.507000													12	91					0	0	0.001855	0	0
DDR1	780	broad.mit.edu	37	6	30862382	30862382	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:30862382C>T	ENST00000324771.8	+	13	1995	c.1447C>T	c.(1447-1449)Ccg>Tcg	p.P483S	DDR1_ENST00000376575.3_Missense_Mutation_p.P483S|DDR1_ENST00000452441.1_Missense_Mutation_p.P483S|DDR1_ENST00000454612.2_Missense_Mutation_p.P483S|DDR1_ENST00000508312.1_Missense_Mutation_p.P501S|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Missense_Mutation_p.P483S|DDR1_ENST00000376570.4_Missense_Mutation_p.P483S|DDR1_ENST00000361741.4_Silent_p.P186P|DDR1_ENST00000418800.2_Missense_Mutation_p.P483S|DDR1_ENST00000376569.3_Missense_Mutation_p.P483S|DDR1_ENST00000513240.1_Missense_Mutation_p.P483S|DDR1_ENST00000376568.3_Missense_Mutation_p.P483S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	483	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAGCCACCCCCGTACCAGGA	0.627000													50	102					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10429959	10429959	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:10429959C>T	ENST00000245503.5	-	30	4528	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1382K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGTCCGTCTCGTATTTGGTC	0.532000													63	118					0	0	0.003610	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097035	69097035	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69097035G>A	ENST00000332644.5	-	7	733	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	191	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCCCTCCAGGGAGCTTTTTCC	0.493000													28	47					0	0	0.008361	0	0
FAM129A	116496	broad.mit.edu	37	1	184765071	184765071	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:184765071C>T	ENST00000367511.3	-	14	2020	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	609				L -> P (in Ref. 7; BAB84965).	negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.L609L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCACTACCCAGAACTCCTG	0.547000													32	102					0	0	0.002445	0	0
FLNB	2317	broad.mit.edu	37	3	58084616	58084616	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:58084616C>T	ENST00000357272.4	+	8	1491	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	FLNB_ENST00000493452.1_Silent_p.F273F|FLNB_ENST00000490882.1_Silent_p.F442F|FLNB_ENST00000419752.2_Silent_p.F273F|FLNB_ENST00000429972.2_Silent_p.F442F|FLNB_ENST00000358537.3_Silent_p.F442F|FLNB_ENST00000348383.5_Silent_p.F442F|FLNB_ENST00000295956.4_Silent_p.F442F			O75369	FLNB_HUMAN	filamin B, beta	442					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGTCCCTTCGTTGTGCAGG	0.547000													38	88					0	0	0.007835	0	0
SUN5	140732	broad.mit.edu	37	20	31583446	31583446	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:31583446C>T	ENST00000356173.3	-	8	605	c.513G>A	c.(511-513)gaG>gaA	p.E171E	SUN5_ENST00000375523.3_Silent_p.E146E	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	171					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGCTTCCATCTCCTGGAGCT	0.498000													98	180					0	0	0.003610	0	0
DNAJC5B	85479	broad.mit.edu	37	8	67012243	67012243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:67012243C>T	ENST00000276570.5	+	6	864	c.577C>T	c.(577-579)Cga>Tga	p.R193*	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	193					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGAAGGATCTCGAAGTTATTG	0.433000													11	32					0	0	0.008291	0	0
EOMES	8320	broad.mit.edu	37	3	27759217	27759217	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:27759217G>A	ENST00000295743.4	-	6	1608	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	EOMES_ENST00000449599.1_Missense_Mutation_p.R488W|EOMES_ENST00000537516.1_Missense_Mutation_p.R193W			O95936	EOMES_HUMAN	eomesodermin	469					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R469W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGCCGTACCGACCTCCAGGG	0.493000													20	46					0	0	0.008871	0	0
RNF130	55819	broad.mit.edu	37	5	179440119	179440119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:179440119C>T	ENST00000522208.2	-	3	653	c.635G>A	c.(634-636)tGg>tAg	p.W212*	RNF130_ENST00000521389.1_Nonsense_Mutation_p.W212*|RNF130_ENST00000261947.4_Nonsense_Mutation_p.W212*			Q86XS8	GOLI_HUMAN	ring finger protein 130	212					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATATGAGCCATGCTGAAGA	0.438000													47	93					0	0	0.003214	0	0
SPAG16	79582	broad.mit.edu	37	2	214794732	214794732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:214794732G>A	ENST00000331683.5	+	12	1358	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	SPAG16_ENST00000374309.3_Nonsense_Mutation_p.W327*	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	421					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTAAATTATGGGATCTATGTA	0.413000													21	75					0	0	0.003330	0	0
ALDH7A1	501	broad.mit.edu	37	5	125896808	125896808	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:125896808G>A	ENST00000409134.3	-	10	1099	c.880C>T	c.(880-882)Ctg>Ttg	p.L294L	ALDH7A1_ENST00000447989.2_Silent_p.L321L|ALDH7A1_ENST00000553117.1_Silent_p.L294L	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	294					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	AGTTCCAACAGACTTCTCCCT	0.338000													27	54					0	0	0.004656	0	0
MKRN3	7681	broad.mit.edu	37	15	23811120	23811120	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:23811120C>T	ENST00000314520.3	+	1	667	c.191C>T	c.(190-192)cCt>cTt	p.P64L	MKRN3_ENST00000568252.1_Missense_Mutation_p.P64L|MKRN3_ENST00000564592.1_Missense_Mutation_p.P64L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	64						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P64L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTCCAGTCCCTGCCCACCTC	0.667000													17	51					0	0	0.006122	0	0
DNAH3	55567	broad.mit.edu	37	16	21136656	21136656	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:21136656C>T	ENST00000261383.3	-	9	1243	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.R415Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	415	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCTCCTTCCGTGAGGTAAA	0.507000													12	91					0	0	0.001855	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066510	46066510	+	Silent	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:46066510G>T	ENST00000334670.8	+	1	180	c.135G>T	c.(133-135)ctG>ctT	p.L45L	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	45	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCTGAGCCTGGTCTGCACCC	0.701000													15	45					1.3612e-06	2.00932e-06	0.003163	1	0
USH2A	7399	broad.mit.edu	37	1	216462695	216462695	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:216462695G>A	ENST00000366943.2	-	11	2284	c.1898C>T	c.(1897-1899)tCg>tTg	p.S633L	USH2A_ENST00000366942.3_Missense_Mutation_p.S633L|USH2A_ENST00000307340.3_Missense_Mutation_p.S633L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	633	Laminin EGF-like 2.				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)		ATCTATGGCCGAAGGATCTGC	0.408000										HNSCC(13;0.011)			25	58					0	0	0.004656	0	0
CXorf57	55086	broad.mit.edu	37	X	105855709	105855709	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:105855709G>A	ENST00000372548.4	+	1	508	c.399G>A	c.(397-399)agG>agA	p.R133R	CXorf57_ENST00000372544.2_Silent_p.R133R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	133										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATTTCCAGGGTCTCATGTC	0.438000													55	61					0	0	0.003610	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378005	113378005	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:113378005C>T	ENST00000316407.4	-	7	2934	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.E842K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	842					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGGAAGCTTTCTAGCAGTCCA	0.478000													9	48					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437354	110437354	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:110437354G>A	ENST00000378402.5	+	24	2842	c.2738G>A	c.(2737-2739)gGa>gAa	p.G913E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	913					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACAGAGGAAATAATTGG	0.338000										HNSCC(38;0.096)			8	22					0	0	0.004482	0	0
CDH18	1016	broad.mit.edu	37	5	19747341	19747341	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:19747341T>G	ENST00000507958.1	-	6	1223	c.233A>C	c.(232-234)cAc>cCc	p.H78P	CDH18_ENST00000274170.4_Missense_Mutation_p.H78P|CDH18_ENST00000506372.1_Missense_Mutation_p.H78P|CDH18_ENST00000502796.1_Missense_Mutation_p.H78P|CDH18_ENST00000382275.1_Missense_Mutation_p.H78P|CDH18_ENST00000511273.1_Missense_Mutation_p.H78P			Q13634	CAD18_HUMAN	cadherin 18, type 2	78	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAATTGGAGTGCAGCTGTGA	0.383000													19	37					0	0	0.007413	0	0
MAST2	23139	broad.mit.edu	37	1	46497984	46497984	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:46497984C>T	ENST00000361297.2	+	25	3605	c.3322C>T	c.(3322-3324)Cac>Tac	p.H1108Y	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1108	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATCATCATCCACCGAGCTGG	0.572000													21	38					0	0	0.001523	0	0
RLTPR	146206	broad.mit.edu	37	16	67685733	67685733	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:67685733C>T	ENST00000334583.6	+	25	2901	c.2573C>T	c.(2572-2574)gCc>gTc	p.A858V	RLTPR_ENST00000545661.1_Missense_Mutation_p.A822V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	858										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTGCAAGATGCCTTCActagg	0.647000													17	22					0	0	0.004007	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310610	117310610	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:117310610G>A	ENST00000321322.6	-	22	4086	c.4085C>T	c.(4084-4086)cCt>cTt	p.P1362L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1092L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1302	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATCCAAGGTGTTGTCAC	0.567000													50	99					0	0	0.003610	0	0
OVOL2	58495	broad.mit.edu	37	20	18022217	18022217	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:18022217C>T	ENST00000278780.6	-	3	714	c.472G>A	c.(472-474)Gac>Aac	p.D158N	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	158					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TCGAAGGTGTCGTTGAAGCCC	0.562000													15	41					0	0	0.003163	0	0
NIT2	56954	broad.mit.edu	37	3	100074060	100074060	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:100074060T>A	ENST00000394140.3	+	10	870	c.779T>A	c.(778-780)gTt>gAt	p.V260D		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	260	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAAATCCCCGTTTTTAGACAG	0.403000													13	34					0	0	0.001855	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518271	45518271	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:45518271C>T	ENST00000291574.4	+	21	3377	c.3202C>T	c.(3202-3204)Cct>Tct	p.P1068S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1068					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GATCTTTCCCCCTTCGGGAAT	0.488000													44	105					0	0	0.008740	0	0
ECEL1	9427	broad.mit.edu	37	2	233344935	233344935	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:233344935C>T	ENST00000304546.1	-	18	2466	c.2256G>A	c.(2254-2256)gaG>gaA	p.E752E	ECEL1_ENST00000409941.1_Silent_p.E750E	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	752					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCCAAACTCCTCAAACTGGG	0.642000													10	54					0	0	0.008291	0	0
CXorf67	340602	broad.mit.edu	37	X	51150935	51150935	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:51150935T>A	ENST00000342995.2	+	1	1169	c.1067T>A	c.(1066-1068)cTt>cAt	p.L356H						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						AGATCAGCCCTTCTCAGCCGC	0.612000													24	12					0	0	0.003954	0	0
CDYL2	124359	broad.mit.edu	37	16	80638393	80638393	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:80638393C>T	ENST00000299564.8	-	7	1568	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	CDYL2_ENST00000563890.1_Silent_p.L472L|CDYL2_ENST00000562812.1_Silent_p.L472L|CDYL2_ENST00000566173.1_Silent_p.L472L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	471						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCACGTCTTCCAGCACTGATT	0.527000													27	118					0	0	0.007291	0	0
GPR98	84059	broad.mit.edu	37	5	89979617	89979617	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:89979617G>A	ENST00000405460.2	+	28	5975	c.5879G>A	c.(5878-5880)gGa>gAa	p.G1960E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1960					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTTCTTTGGGAGCTCATATT	0.428000													14	29					0	0	0.002450	0	0
PASD1	139135	broad.mit.edu	37	X	150832698	150832698	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:150832698G>A	ENST00000370357.4	+	11	1194	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	317						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGACCAGGAGGGCCCAAT	0.597000													31	22					0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179417166	179417166	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:179417166G>A	ENST00000589042.1	-	335	90685	c.90461C>T	c.(90460-90462)cCt>cTt	p.P30154L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21089L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P28513L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21214L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21281L|TTN_ENST00000342992.6_Missense_Mutation_p.P27586L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28513	Fibronectin type-III 119.						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)			TCCCTTATAAGGTAATTCAAG	0.403000													19	28					0	0	0.008871	0	0
TNFRSF17	608	broad.mit.edu	37	16	12059218	12059218	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:12059218T>A	ENST00000053243.1	+	1	255	c.37T>A	c.(37-39)Tat>Aat	p.Y13N	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.Y13N	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	13					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CCAAAATGAATATTTTGACAG	0.398000			T	IL2	intestinal T-cell lymphoma								5	162					0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			227	244					0	0	0.003610	0	0
KANSL1	284058	broad.mit.edu	37	17	44128027	44128027	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:44128027G>A	ENST00000262419.6	-	7	2362	c.1892C>T	c.(1891-1893)cCc>cTc	p.P631L	KANSL1_ENST00000432791.1_Missense_Mutation_p.P631L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.P631L|KANSL1_ENST00000575318.1_Missense_Mutation_p.P631L|KANSL1_ENST00000574590.1_Missense_Mutation_p.P631L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	631						MLL1 complex	protein binding										TGCGCAGGAGGGATTCACATC	0.498000													10	17					0	0	0.000978	0	0
CSMD1	64478	broad.mit.edu	37	8	2855685	2855685	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:2855685C>T	ENST00000520002.1	-	55	8783	c.8228G>A	c.(8227-8229)gGa>gAa	p.G2743E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2685E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2743E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2685E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2684E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2742E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2743	Sushi 19.					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)		GGCAGGGTTTCCAGGGTGACC	0.458000													47	98					0	0	0.003610	0	0
MPDZ	8777	broad.mit.edu	37	9	13138031	13138031	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:13138031G>A	ENST00000319217.7	-	29	4372	c.4125C>T	c.(4123-4125)gtC>gtT	p.V1375V	MPDZ_ENST00000536827.1_Silent_p.V1342V|MPDZ_ENST00000381015.4_Silent_p.V1375V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000447879.1_Silent_p.V1342V|MPDZ_ENST00000546205.1_Silent_p.V1389V|MPDZ_ENST00000541718.1_Silent_p.V1375V|MPDZ_ENST00000538841.1_Silent_p.V234V|MPDZ_ENST00000381022.2_Silent_p.V1375V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1375	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCACTATGAAGACACTCATCC	0.443000													22	14					0	0	0.003330	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623467	37623467	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:37623467G>A	ENST00000399151.3	+	22	5091	c.5006G>A	c.(5005-5007)aGa>aAa	p.R1669K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1669					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						TAGACCATAAGACAAAAAATT	0.453000													17	98					0	0	0.006122	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	T	rs147405090		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:98509802C>T	ENST00000359863.4	+	18	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					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	p.S722F(10)		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)			GGCTCTGTCTCCCTCTTTGCA	0.463000													39	84					0	0	0.007835	0	0
SLC40A1	30061	broad.mit.edu	37	2	190444572	190444572	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:190444572G>A	ENST00000261024.2	-	2	504	c.78C>T	c.(76-78)ttC>ttT	p.F26F	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	26					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GGTAGAGAAGGAATTTTGCAG	0.458000													20	41					0	0	0.001882	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887197	128887197	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:128887197G>A	ENST00000371106.3	+	11	1272	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	360					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGAACAGCAAGGAGCAGGCCC	0.557000													5	59					0	0	0.000602	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361578	20361578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:20361578G>A	ENST00000423676.3	-	3	314	c.251C>T	c.(250-252)cCc>cTc	p.P84L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.P84L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	84	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCTCTCCTCGGGCCCCCATCT	0.552000													36	69					0	0	0.006999	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943163	26943163	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:26943163G>A	ENST00000528896.2	-	37	6415	c.6341C>T	c.(6340-6342)tCc>tTc	p.S2114F	SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1971F|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1971F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2114						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTAGATGAAGGAGTTGTTCAT	0.478000													17	49					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509188	110509188	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:110509188C>T	ENST00000378402.5	+	64	10472	c.10368C>T	c.(10366-10368)gcC>gcT	p.A3456A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3456					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAATGAAGCCCATGGAGGTT	0.378000										HNSCC(38;0.096)			28	79					0	0	0.006320	0	0
RRBP1	6238	broad.mit.edu	37	20	17640802	17640802	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:17640802G>A	ENST00000377813.1	-	3	654	c.351C>T	c.(349-351)atC>atT	p.I117I	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Silent_p.I117I|RRBP1_ENST00000360807.4_Silent_p.I117I|RRBP1_ENST00000246043.4_Silent_p.I117I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	117					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGGAGCAACGATAATGGGGG	0.572000													13	37					0	0	0.003163	0	0
WISP2	8839	broad.mit.edu	37	20	43353579	43353579	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:43353579G>A	ENST00000372868.2	+	4	821	c.478G>A	c.(478-480)Gag>Aag	p.E160K	WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.E160K|WISP2_ENST00000372865.4_Intron			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	160	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GTGCTGCCCTGAGTGGGTGTG	0.716000													8	21					0	0	0.000978	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356561	22356561	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:22356561C>T	ENST00000390437.2	+	0	324																											TCATATACTCCAATGGTGACA	0.463000													60	143					0	0	0.003610	0	0
TCL6	27004	broad.mit.edu	37	14	96135846	96135846	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:96135846G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gattacaggcgtgagccacca	0.532000			T	TRA@	T-ALL								12	22					0	0	0.001855	0	0
CCNA1	8900	broad.mit.edu	37	13	37012209	37012209	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:37012209C>T	ENST00000418263.1	+	4	897	c.547C>T	c.(547-549)Cct>Tct	p.P183S	CCNA1_ENST00000449823.1_Missense_Mutation_p.P140S|CCNA1_ENST00000440264.1_Missense_Mutation_p.P140S|CCNA1_ENST00000255465.4_Missense_Mutation_p.P184S	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	184					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCAGTTTCCCCTATGCTGGT	0.373000													45	144					0	0	0.003610	0	0
GPR161	23432	broad.mit.edu	37	1	168065816	168065816	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:168065816C>T	ENST00000367838.1	-	5	1342	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	GPR161_ENST00000367836.1_Silent_p.R211R|GPR161_ENST00000361697.2_Silent_p.R343R|GPR161_ENST00000271357.5_Silent_p.R343R|GPR161_ENST00000537209.1_Silent_p.R363R|GPR161_ENST00000367835.1_Silent_p.R343R|GPR161_ENST00000539777.1_Silent_p.R265R|GPR161_ENST00000546300.1_Silent_p.R229R	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	343					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCGATAATACCGGTCCCCAA	0.522000													26	51					0	0	0.004656	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142625	18142625	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:18142625C>T	ENST00000278816.2	+	6	1494	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.L282F|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.L281F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.L154F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	282					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGCTGGCTTTCTTGACAGGAG	0.473000													53	146					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32053810	32053810	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr6:32053810G>A	ENST00000375244.3	-	7	3066	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	TNXB_ENST00000375247.2_Silent_p.L955L			P22105	TENX_HUMAN	tenascin XB	1042	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCTGCAGGAGAGGAGCCT	0.682000													79	315					0	0	0.003610	0	0
NOL10	79954	broad.mit.edu	37	2	10717816	10717816	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:10717816C>T	ENST00000345985.3	-	19	1853	c.1743G>A	c.(1741-1743)ttG>ttA	p.L581L	NOL10_ENST00000542668.1_Silent_p.L581L|NOL10_ENST00000381685.5_Silent_p.L631L|NOL10_ENST00000538384.1_Silent_p.L605L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	631						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CGGATACACTCAATGTCCCAT	0.313000													9	23					0	0	0.002450	0	0
KMT2C	58508	broad.mit.edu	37	7	151962193	151962193	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:151962193C>T	ENST00000355193.2	-	8	1332	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D372N					lysine (K)-specific methyltransferase 2C																		ACCGCTATATCCAGGCACATT	0.453000													10	456					0	0	0.008291	0	0
EPPK1	83481	broad.mit.edu	37	8	144940357	144940357	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:144940357G>A	ENST00000525985.1	-	2	7136	c.7065C>T	c.(7063-7065)caC>caT	p.H2355H				P58107	EPIPL_HUMAN	epiplakin 1	2355						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGCACGCGGTGGCTGTGCA	0.692000													22	406					0	0	0.008361	0	0
CLASP2	23122	broad.mit.edu	37	3	33552178	33552178	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:33552178G>A	ENST00000399362.4	-	37	4563	c.4210C>T	c.(4210-4212)Cct>Tct	p.P1404S	CLASP2_ENST00000307312.7_Missense_Mutation_p.P886S|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.P1396S|CLASP2_ENST00000480013.1_Missense_Mutation_p.P1184S|CLASP2_ENST00000468888.2_Missense_Mutation_p.P1405S|CLASP2_ENST00000461133.3_Missense_Mutation_p.P1164S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1406										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGAATGATAGGACAAAGCACT	0.413000													10	31					0	0	0.000978	0	0
CPXM2	119587	broad.mit.edu	37	10	125622149	125622149	+	Missense_Mutation	SNP	C	C	T	rs144190123	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:125622149C>T	ENST00000241305.3	-	3	648	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	165	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGTCTCCCTCGATGTGCCCC	0.532000													9	29					0	0	0.001855	0	0
SSX7	280658	broad.mit.edu	37	X	52677369	52677369	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:52677369C>T	ENST00000298181.5	-	6	566	c.408G>A	c.(406-408)ggG>ggA	p.G136G		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACAGGTGTTTCCCATCGTTCT	0.483000													87	59					0	0	0.003610	0	0
PRDX6	9588	broad.mit.edu	37	1	173455410	173455410	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:173455410C>T	ENST00000340385.5	+	4	548	c.416C>T	c.(415-417)cCt>cTt	p.P139L	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	139	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GTTTTTGGTCCTGATAAGAAG	0.428000													53	179					0	0	0.003610	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203412	69203412	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:69203412G>A	ENST00000344157.4	-	3	672	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R113W|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R113W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	113										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGAATTTTCCGATCAGCATCT	0.388000													19	64					0	0	0.008871	0	0
PRKCB	5579	broad.mit.edu	37	16	24226117	24226117	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:24226117A>T	ENST00000303531.7	+	17	2154	c.2002A>T	c.(2002-2004)Aaa>Taa	p.K668*	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	0	AGC-kinase C-terminal.				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)	TGAATTTTTAAAACCCGAAGT	0.408000													28	55					0	0	0.002096	0	0
TRIM16	10626	broad.mit.edu	37	17	15539401	15539401	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:15539401C>T	ENST00000455584.2	-	3	841	c.798G>A	c.(796-798)aaG>aaA	p.K266K	TRIM16_ENST00000579219.1_Silent_p.K50K|TRIM16_ENST00000578237.1_Silent_p.K266K|TRIM16_ENST00000577886.1_Silent_p.K50K|TRIM16_ENST00000336708.7_Silent_p.K266K|TRIM16_ENST00000416464.2_Silent_p.K136K																							CCAGCTCCTGCTTGCTCTTCT	0.592000													13	65					0	0	0.003163	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841730	8841730	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:8841730C>T	ENST00000324060.2	+	1	415	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAGGGCGTCCTGTTGGTCCT	0.537000													23	32					0	0	0.002299	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076345	11076345	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:11076345G>A	ENST00000287766.4	+	15	2077	c.1656G>A	c.(1654-1656)atG>atA	p.M552I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M374I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	552					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCGGGTACATGGCCTACATGT	0.577000													40	85					0	0	0.003610	0	0
BCL6B	255877	broad.mit.edu	37	17	6928507	6928507	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:6928507C>T	ENST00000293805.5	+	5	969	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	293						nucleus	zinc ion binding			skin(1)	1						TGAACGGGCTCGTCCACTACC	0.557000													38	141					0	0	0.003610	0	0
STIM2	57620	broad.mit.edu	37	4	27010420	27010420	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:27010420G>A	ENST00000382009.3	+	11	1837	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	STIM2_ENST00000412829.2_Missense_Mutation_p.E516K|STIM2_ENST00000467011.1_Missense_Mutation_p.E429K|STIM2_ENST00000467087.1_Missense_Mutation_p.E429K|STIM2_ENST00000237364.5_Missense_Mutation_p.E516K|STIM2_ENST00000465503.1_Missense_Mutation_p.E437K	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	429					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTGTTTACGAGAACGACTTTT	0.413000													19	62					0	0	0.006122	0	0
XIRP1	165904	broad.mit.edu	37	3	39226199	39226199	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:39226199C>T	ENST00000340369.3	-	2	4966	c.4738G>A	c.(4738-4740)Gac>Aac	p.D1580N	XIRP1_ENST00000421646.1_Missense_Mutation_p.D263N|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1580							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCACTGTGGTCTTTTGGAGGT	0.587000													64	167					0	0	0.003610	0	0
PROM2	150696	broad.mit.edu	37	2	95952903	95952903	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:95952903C>T	ENST00000317620.9	+	19	2250	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	PROM2_ENST00000403131.2_Missense_Mutation_p.A706V|PROM2_ENST00000542147.1_Missense_Mutation_p.A657V|PROM2_ENST00000317668.4_Missense_Mutation_p.A706V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	706						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GATGTCCTAGCCAATGTCACC	0.572000													5	28					0	0	0.003080	0	0
OR4C12	283093	broad.mit.edu	37	11	50003119	50003119	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:50003119C>T	ENST00000335238.4	-	1	952	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAATCATTATCTGAAGTCACT	0.373000													15	22					0	0	0.003163	0	0
RASSF2	9770	broad.mit.edu	37	20	4776474	4776474	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:4776474G>A	ENST00000379400.3	-	5	469	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	RASSF2_ENST00000379376.2_Silent_p.L92L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	92					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGAGCCCCCAGGTTACAGCCA	0.597000													42	104					0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19451758	19451758	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:19451758G>A	ENST00000396229.2	+	3	1147	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TMC5_ENST00000381414.4_Missense_Mutation_p.R133Q|TMC5_ENST00000541464.1_Missense_Mutation_p.R133Q|TMC5_ENST00000542583.2_Missense_Mutation_p.R133Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	133						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGATCTCAACGAAATCCTGAT	0.498000													87	164					0	0	0.003610	0	0
LIPI	149998	broad.mit.edu	37	21	15561360	15561360	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:15561360G>A	ENST00000344577.2	-	2	515	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	LIPI_ENST00000536861.1_Missense_Mutation_p.L143F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	143					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.L164V(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTTACCAAAAGATTTTTAATG	0.333000													13	48					0	0	0.002450	0	0
HERC2	8924	broad.mit.edu	37	15	28391446	28391446	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:28391446C>T	ENST00000261609.7	-	71	11053	c.10945G>A	c.(10945-10947)Gag>Aag	p.E3649K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3649					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGCGCCTCTCTGTGGAGCAC	0.557000													22	55					0	0	0.002299	0	0
TOP2B	7155	broad.mit.edu	37	3	25674191	25674191	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:25674191G>A	ENST00000435706.2	-	9	1307	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	TOP2B_ENST00000264331.4_Missense_Mutation_p.P374L			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	374					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TACTTGAAATGGTTTCACTGA	0.333000													36	98					0	0	0.004289	0	0
YME1L1	10730	broad.mit.edu	37	10	27434373	27434373	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:27434373G>A	ENST00000326799.3	-	4	634	c.486C>T	c.(484-486)ttC>ttT	p.F162F	YME1L1_ENST00000477432.1_3'UTR|YME1L1_ENST00000376016.3_Silent_p.F105F|YME1L1_ENST00000375972.3_Silent_p.F105F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	162					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TATTTTCAAAGAAGGATTGTG	0.318000													16	39					0	0	0.004990	0	0
CD300LG	146894	broad.mit.edu	37	17	41926251	41926251	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:41926251C>T	ENST00000317310.4	+	2	410	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD300LG_ENST00000293396.8_Silent_p.F123F|CD300LG_ENST00000588884.1_Silent_p.F123F|CD300LG_ENST00000586233.1_Silent_p.F123F|CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000539718.1_Silent_p.F123F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	123						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			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)		TCTCTCTGTTCGTCTTTCCAG	0.557000													21	45					0	0	0.001523	0	0
TRIP10	9322	broad.mit.edu	37	19	6750053	6750053	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:6750053G>A	ENST00000600428.1	+	11	1525	c.879G>A	c.(877-879)ctG>ctA	p.L293L	TRIP10_ENST00000596758.1_Silent_p.L401L|TRIP10_ENST00000313244.9_Silent_p.L457L|TRIP10_ENST00000313285.8_Silent_p.L401L|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	457	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TTGAACGGCTGAAATTGGAAG	0.587000													42	57					0	0	0.002852	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731709	140731709	+	Silent	SNP	T	T	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:140731709T>C	ENST00000523390.1	+	1	1882	c.1882T>C	c.(1882-1884)Ttg>Ctg	p.L628L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGTGCCTTGGGCGACAG	0.697000													9	37					0	0	0.001368	0	0
KCNA6	3742	broad.mit.edu	37	12	4919430	4919430	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:4919430C>T	ENST00000433855.1	+	1	1089	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	KCNA6_ENST00000280684.3_Missense_Mutation_p.R75C	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGGCGAGTCCGCTTCTTCGA	0.632000										HNSCC(72;0.22)			26	65					0	0	0.003954	0	0
NOB1	28987	broad.mit.edu	37	16	69776383	69776383	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:69776383G>A	ENST00000268802.5	-	9	1120	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	364						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATGTAGTCAGGGGCGAACAC	0.612000													23	82					0	0	0.002780	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65153749	65153749	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:65153749C>T	ENST00000323544.4	+	5	586	c.458C>T	c.(457-459)cCa>cTa	p.P153L	AC069368.3_ENST00000437723.1_Missense_Mutation_p.P153L	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	153										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGACGCCGGCCACCAACGAGA	0.647000													7	24					0	0	0.000978	0	0
BBOX1	8424	broad.mit.edu	37	11	27147337	27147337	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:27147337G>A	ENST00000263182.3	+	8	1341	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	BBOX1_ENST00000525090.1_Missense_Mutation_p.E325K|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.E325K|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.E325K	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	325					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GAACAGCAAAGAATCCAAGTT	0.373000													5	41					0	0	0.003080	0	0
CCDC146	57639	broad.mit.edu	37	7	76924064	76924064	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:76924064G>A	ENST00000285871.4	+	19	2876	c.2749G>A	c.(2749-2751)Gca>Aca	p.A917T	CCDC146_ENST00000431197.1_Missense_Mutation_p.A631T|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	917										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CATCCCAGAAGCAGATGCCAC	0.468000													12	51					0	0	0.001855	0	0
ASB5	140458	broad.mit.edu	37	4	177143536	177143536	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:177143536G>A	ENST00000296525.3	-	3	425	c.312C>T	c.(310-312)gtC>gtT	p.V104V	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.V51V	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	104					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GCAATGGGGTGACATGGTCTA	0.388000													27	71					0	0	0.001786	0	0
NIPAL2	79815	broad.mit.edu	37	8	99208229	99208229	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:99208229G>A	ENST00000341166.3	-	9	1140	c.885C>T	c.(883-885)atC>atT	p.I295I	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Silent_p.I295I	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	295						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GATAAAATATGATACCTGTAA	0.269000													13	26					0	0	0.001855	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279529	73279529	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:73279529G>A	ENST00000320531.2	+	2	315	c.279G>A	c.(277-279)caG>caA	p.Q93Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	93						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TGGTGCTACAGGGACCCAGGC	0.687000													24	40					0	0	0.002780	0	0
PSG4	5672	broad.mit.edu	37	19	43708061	43708061	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:43708061C>T	ENST00000405312.3	-	2	644	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PSG4_ENST00000244295.9_Missense_Mutation_p.G136E|PSG4_ENST00000433626.2_Missense_Mutation_p.G136E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	136	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTGAAATGTCCAGTTACTCC	0.522000													75	106					0	0	0.003610	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257506	134257506	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:134257506G>A	ENST00000524765.1	-	2	4592	c.48C>T	c.(46-48)ccC>ccT	p.P16P	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Silent_p.P16P|B3GAT1_ENST00000537389.1_Silent_p.P29P|B3GAT1_ENST00000312527.4_Silent_p.P16P			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	16					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCAGAGTCCAGGGCAGCACGA	0.627000													19	62					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179410659	179410659	+	Silent	SNP	G	G	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:179410659G>T	ENST00000589042.1	-	343	95528	c.95304C>A	c.(95302-95304)gtC>gtA	p.V31768V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.V22703V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.V30127V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.V22828V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.V22895V|TTN_ENST00000342992.6_Silent_p.V29200V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30127	Fibronectin type-III 131.						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)			GCCTGGTAACGACATAGGATA	0.488000													26	64					1.85244e-09	2.74638e-09	0.003330	1	0
CELA3A	10136	broad.mit.edu	37	1	22329551	22329551	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:22329551G>A	ENST00000290122.3	+	2	118	c.99G>A	c.(97-99)gaG>gaA	p.E33E	CELA3A_ENST00000374663.1_Silent_p.E33E	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCATGGTGAGGATGCGGTCC	0.602000													45	83					0	0	0.003610	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733175	106733175	+	RNA	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:106733175G>A	ENST00000390610.2	-	0	379																											CGTGTCCTCAGATCTCAGGCT	0.532000													93	323					0	0	0.003610	0	0
MYO18A	399687	broad.mit.edu	37	17	27448924	27448924	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:27448924A>C	ENST00000527372.1	-	4	1319	c.1139T>G	c.(1138-1140)gTg>gGg	p.V380G	MYO18A_ENST00000531253.1_Missense_Mutation_p.V380G|MYO18A_ENST00000354329.4_Missense_Mutation_p.V380G|MYO18A_ENST00000533112.1_Missense_Mutation_p.V380G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	380					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)			GTCCAGCTTCACACGCACCTT	0.612000													26	63					0	0	0.005443	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131766	66131766	+	RNA	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:66131766C>T	ENST00000590019.1	-	0	298																											GCCGCGGAACCTTCCGCCCAG	0.692000													10	9					0	0	0.008291	0	0
NLRP13	126204	broad.mit.edu	37	19	56443675	56443675	+	Translation_Start_Site	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:56443675C>T	ENST00000588751.1	-	1	27	c.3G>A	c.(1-3)atG>atA	p.M1I	NLRP13_ENST00000342929.3_Start_Codon_SNP_p.M1I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGAAAAGTTCATCTTGCCCA	0.478000													40	32					0	0	0.007835	0	0
PXDNL	137902	broad.mit.edu	37	8	52339295	52339295	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:52339295G>A	ENST00000356297.4	-	13	1649	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P517S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	517	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTATCCTGAGGAAGTTGAGTA	0.368000													6	21					0	0	0.001168	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080096	70080096	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr4:70080096G>A	ENST00000446444.1	-	1	353	c.345C>T	c.(343-345)atC>atT	p.I115I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	115					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299000													11	71					0	0	0.003163	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748390	10748390	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:10748390C>T	ENST00000586078.1	+	17	1771	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	SLC44A2_ENST00000335757.5_Silent_p.F554F|SLC44A2_ENST00000407327.4_Silent_p.F552F|SLC44A2_ENST00000588214.1_3'UTR	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	554					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGAGAAGTTCATCAAATTCC	0.547000													42	52					0	0	0.003214	0	0
CAPSL	133690	broad.mit.edu	37	5	35910557	35910557	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:35910557C>T	ENST00000397367.2	-	3	352	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CAPSL_ENST00000397366.1_Missense_Mutation_p.E76K|CAPSL_ENST00000514524.1_Missense_Mutation_p.E76K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	76	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCTTCTTTTTCCATGACCACA	0.338000													19	52					0	0	0.008871	0	0
RGS7	6000	broad.mit.edu	37	1	240939511	240939511	+	Silent	SNP	C	C	T	rs114705999	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:240939511C>T	ENST00000366565.1	-	18	1797	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	RGS7_ENST00000366562.4_Silent_p.G454G|RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366564.1_Silent_p.G454G|RGS7_ENST00000446183.2_3'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	472					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	p.G472G(1)		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)			TGAGAGATTTCCCCTGAGAAA	0.383000													20	54					0	0	0.001523	0	0
PREX2	80243	broad.mit.edu	37	8	68989661	68989661	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:68989661G>A	ENST00000288368.4	+	15	1876	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	PREX2_ENST00000529398.1_3'UTR	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	533	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						AAGAGGCAATGATATTTGGCG	0.438000													31	82					0	0	0.004878	0	0
MUC13	56667	broad.mit.edu	37	3	124632523	124632523	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:124632523G>A	ENST00000311075.3	-	7	1005	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	323	EGF-like 2.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TCACACCGAAGGGTCACTGAG	0.413000													8	27					0	0	0.006214	0	0
RASSF2	9770	broad.mit.edu	37	20	4776475	4776475	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:4776475G>A	ENST00000379400.3	-	5	468	c.273C>T	c.(271-273)aaC>aaT	p.N91N	RASSF2_ENST00000379376.2_Silent_p.N91N	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	91					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GAGCCCCCAGGTTACAGCCAG	0.597000													42	104					0	0	0.003610	0	0
KCNRG	283518	broad.mit.edu	37	13	50589901	50589901	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr13:50589901T>G	ENST00000360473.4	+	1	512	c.272T>G	c.(271-273)cTt>cGt	p.L91R	TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_Missense_Mutation_p.L91R|TRIM13_ENST00000378182.3_3'UTR	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	91	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTCTATGAACTTCGTTCTCTA	0.403000													39	129					0	0	0.006999	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658439	111658439	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:111658439G>A	ENST00000431670.2	+	7	2659	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	PHLDB2_ENST00000495180.1_Missense_Mutation_p.E336K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E707K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E734K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E750K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E707K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	750						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.E707K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTCCTGCGTGAAGTTGCTGA	0.393000													8	33					0	0	0.006214	0	0
RAB7L1	8934	broad.mit.edu	37	1	205740632	205740632	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:205740632C>T	ENST00000367139.3	-	4	649	c.346G>A	c.(346-348)Gag>Aag	p.E116K	RAB7L1_ENST00000446390.2_Missense_Mutation_p.E92K|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E116K|RAB7L1_ENST00000437324.2_Missense_Mutation_p.E44K|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E116K	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	116					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCACCGGCTCTCCATTGGGT	0.493000													114	270					0	0	0.003610	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964660	94964660	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr14:94964660G>A	ENST00000341228.2	-	3	870	c.75C>T	c.(73-75)ttC>ttT	p.F25F	SERPINA12_ENST00000556881.1_Silent_p.F25F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	25					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCCTTGGTGAGAAGCTCGGCT	0.478000													69	136					0	0	0.003610	0	0
ROBO3	64221	broad.mit.edu	37	11	124739925	124739925	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:124739925G>A	ENST00000397801.1	+	4	919	c.727G>A	c.(727-729)Gga>Aga	p.G243R	ROBO3_ENST00000538940.1_Missense_Mutation_p.G221R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	243	Ig-like C2-type 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAACATGGCGGGAGAACGGGA	0.522000													9	29					0	0	0.006214	0	0
NSD1	64324	broad.mit.edu	37	5	176638794	176638794	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:176638794G>A	ENST00000439151.2	+	5	3439	c.3394G>A	c.(3394-3396)Gga>Aga	p.G1132R	NSD1_ENST00000361032.4_Missense_Mutation_p.G1029R|NSD1_ENST00000347982.4_Missense_Mutation_p.G863R|NSD1_ENST00000354179.4_Missense_Mutation_p.G863R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1132					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTTGAAAACGGAAAAGGCCC	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			5	35					0	0	0.000602	0	0
ADAM7	8756	broad.mit.edu	37	8	24333986	24333986	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:24333986G>A	ENST00000175238.6	+	8	757	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R225Q	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R225Q(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTAAGGAACCGAATTTGGGGA	0.333000													13	50					0	0	0.004990	0	0
APCDD1L	164284	broad.mit.edu	37	20	57042501	57042501	+	Silent	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr20:57042501G>A	ENST00000371149.3	-	3	632	c.402C>T	c.(400-402)atC>atT	p.I134I	APCDD1L_ENST00000439429.1_Silent_p.I145I	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	134						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGTGGAAGACGATGCCCACCT	0.751000													4	17					0	0	0.000248	0	0
AJAP1	55966	broad.mit.edu	37	1	4772197	4772197	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:4772197C>T	ENST00000378191.4	+	2	648	c.267C>T	c.(265-267)atC>atT	p.I89I	AJAP1_ENST00000378190.3_Silent_p.I89I|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	89					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGGAGCGGATCCACGGGCAGA	0.761000													6	15					0	0	0.001168	0	0
LRRC3	81543	broad.mit.edu	37	21	45876772	45876772	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr21:45876772G>A	ENST00000291592.4	+	2	562	c.245G>A	c.(244-246)gGg>gAg	p.G82E		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	82						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTCCCGGACGGGGCCTTCCAG	0.677000													17	51					0	0	0.008871	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881255	33881255	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:33881255C>T	ENST00000504830.1	-	2	793	c.458G>A	c.(457-459)gGg>gAg	p.G153E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G153E|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G153E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCTGCCGTCCCAACTCTGGT	0.587000										HNSCC(64;0.19)			10	58					0	0	0.000978	0	0
SCN3A	6328	broad.mit.edu	37	2	166032796	166032796	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:166032796G>A	ENST00000360093.3	-	3	600	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P37S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P37S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	37						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCTTTTTGGGCTTCTTGGCT	0.438000													34	131					0	0	0.003755	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454590	6454590	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr19:6454590G>A	ENST00000301454.4	-	5	728	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	SLC25A23_ENST00000334510.5_Missense_Mutation_p.R208C|SLC25A23_ENST00000414491.2_Missense_Mutation_p.R25C	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	208					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCTTGAGGCGGTCCAGAGGG	0.642000													27	16					0	0	0.005443	0	0
C16orf62	57020	broad.mit.edu	37	16	19580782	19580782	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:19580782G>A	ENST00000438132.3	+	3	469	c.421G>A	c.(421-423)Gga>Aga	p.G141R	C16orf62_ENST00000251143.5_Missense_Mutation_p.G52R|C16orf62_ENST00000542263.1_Missense_Mutation_p.G141R|C16orf62_ENST00000538853.1_Missense_Mutation_p.G141R|C16orf62_ENST00000417362.2_Missense_Mutation_p.G52R	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	52						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAACCGGAAAGGAAGCACTTC	0.542000													33	45					0	0	0.003271	0	0
SPTBN1	6711	broad.mit.edu	37	2	54873100	54873100	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr2:54873100C>T	ENST00000333896.5	+	21	4876	c.4491C>T	c.(4489-4491)tcC>tcT	p.S1497S	SPTBN1_ENST00000356805.4_Silent_p.S1510S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1510					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGGCAACTTCCACGGATCATG	0.438000													25	79					0	0	0.005443	0	0
BLNK	29760	broad.mit.edu	37	10	97990570	97990570	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:97990570C>T	ENST00000224337.5	-	4	325	c.184G>A	c.(184-186)Gag>Aag	p.E62K	BLNK_ENST00000413476.2_Missense_Mutation_p.E62K|BLNK_ENST00000427367.2_Missense_Mutation_p.E62K|BLNK_ENST00000371176.2_Missense_Mutation_p.E62K	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	62				E -> Q (in Ref. 3; AAH18906).	B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GACCACTGCTCCTCTTCGTCA	0.542000													5	23					0	0	0.001984	0	0
F13B	2165	broad.mit.edu	37	1	197026195	197026195	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:197026195C>T	ENST00000367412.1	-	7	1162	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	373	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTATCTCATTCGATCCATGGA	0.373000													20	43					0	0	0.001523	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215489	21215489	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:21215489C>T	ENST00000342679.4	+	10	1059	c.810C>T	c.(808-810)tcC>tcT	p.S270S	MAP2K3_ENST00000361818.5_Silent_p.S241S|MAP2K3_ENST00000316920.6_Silent_p.S241S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	270	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CTTACGAGTCCTGGGGGACCC	0.657000													15	39					0	0	0.002450	0	0
C15orf27	123591	broad.mit.edu	37	15	76496435	76496435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr15:76496435G>A	ENST00000388942.3	+	11	1651	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	459						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAAGGCCTTGGACCCAGCCCC	0.687000													17	72					0	0	0.004007	0	0
LAG3	3902	broad.mit.edu	37	12	6886536	6886536	+	Silent	SNP	A	A	G			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:6886536A>G	ENST00000203629.2	+	6	1497	c.1164A>G	c.(1162-1164)ccA>ccG	p.P388P		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	388	Ig-like C2-type 3.					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						TGGACACCCCATCCCAGAGGA	0.577000													47	102					0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137716702	137716702	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr9:137716702G>A	ENST00000371817.3	+	62	5368		c.e62+1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCCCAGATGGTGAGGGCCTG	0.662000													10	13					0	0	0.006214	0	0
PLD2	5338	broad.mit.edu	37	17	4714154	4714154	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:4714154C>T	ENST00000263088.6	+	10	1049	c.918C>T	c.(916-918)atC>atT	p.I306I	PLD2_ENST00000572940.1_Silent_p.I306I	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	306	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCCAAGAGATCACTGAGCTGG	0.617000													13	71					0	0	0.001855	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495377	149495377	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr5:149495377C>T	ENST00000261799.4	-	23	3739	c.3270G>A	c.(3268-3270)ccG>ccA	p.P1090P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1090					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.P1090P(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCCGAATCCGGCAACTGTT	0.682000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								13	31					0	0	0.003163	0	0
NLGN2	57555	broad.mit.edu	37	17	7311998	7311998	+	Silent	SNP	C	C	T			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr17:7311998C>T	ENST00000302926.2	+	1	497	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	NLGN2_ENST00000575301.1_Silent_p.L142L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	142					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGAGGACTGCCTGTACCTCAA	0.652000													12	21					0	0	0.001855	0	0
ANKRD20A12P	100874392	broad.mit.edu	37	1	142720897	142720898	+	RNA	INS	-	-	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr1:142720897_142720898insA	ENST00000595144.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													7	32	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													4	4	---	---	---	---					
LOC646762	646762	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													9	22	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2397)ttt>tCTCtt	p.799_799F>SL	POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													9	79	---	---	---	---					
CYHR1	50626	broad.mit.edu	37	8	145689659	145689659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr8:145689659delC	ENST00000403000.2	-	2	1017	c.430delG	c.(430-432)cgfs	p.A144fs	CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000424149.2_Frame_Shift_Del_p.A144fs|CYHR1_ENST00000306145.5_Frame_Shift_Del_p.A144fs|CTD-2517M22.16_ENST00000525461.1_RNA	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	0						perinuclear region of cytoplasm	zinc ion binding	p.A144fs*>50(1)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCAGCATCGCCCCCCCCCAC	0.632											OREG0019056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	180	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													4	5	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118344862	118344877	+	Frame_Shift_Del	DEL	TAGCACTGTTAAACAT	TAGCACTGTTAAACAT	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr11:118344862_118344877delTAGCACTGTTAAACAT	ENST00000534358.1	+	3	3011_3026	c.2988_3003delTAGCACTGTTAAACAT	c.(2986-3003)tcfs	p.SSTVKH996fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.SSTVKH996fs|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.SSTVKH996fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCCTTCATCTAGCACTGTTAAACATTCCACTTCCT	0.505													15	89	---	---	---	---					
KDM2B	84678	broad.mit.edu	37	12	121986849	121986850	+	Frame_Shift_Ins	INS	-	-	CTGGA			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr12:121986849_121986850insCTGGA	ENST00000377069.4	-	6	928_929	c.522_523insTCCAG	c.(520-525)caatctfs	p.QS174fs	KDM2B_ENST00000536437.1_Frame_Shift_Ins_p.QS88fs|KDM2B_ENST00000377071.4_Frame_Shift_Ins_p.QS205fs|KDM2B_ENST00000538046.2_Frame_Shift_Ins_p.QS205fs	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	205					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.Q205Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTTCAGATGCTGGGGCCACA	0.550													12	107	---	---	---	---					
HERC2P4	100289574	broad.mit.edu	37	16	32126912	32126912	+	RNA	DEL	A	A	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr16:32126912delA	ENST00000564145.1	-	0	456																											TATTTTGCCCACCCGCCGCCG	0.602													5	8	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---					
ZFX	7543	broad.mit.edu	37	X	24225549	24225550	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FS-A1ZW-06A-12D-A197-08	TCGA-FS-A1ZW-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	490fe6c8-d3e9-4713-a48b-cdd7496b37a7	b6aea399-b2ad-4f01-8a64-0539f2b49dd2	g.chrX:24225549_24225550insA	ENST00000379177.1	+	7	1180_1181	c.753_754insA	c.(751-756)ataggtfs	p.G252fs	ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.G291fs|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.G23fs|ZFX_ENST00000379188.3_Frame_Shift_Ins_p.G252fs|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.G252fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTGAGGTCATCAAGGTGTACAT	0.416													55	34	---	---	---	---