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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRIA4	2893	broad.mit.edu	37	11	105623911	105623911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:105623911G>A	uc001pix.2	+	3	898	c.452G>A	c.(451-453)tGg>tAg	p.W151*	GRIA4_uc001piu.1_Nonsense_Mutation_p.W151*|GRIA4_uc001piw.2_Nonsense_Mutation_p.W151*|GRIA4_uc001piv.3_Nonsense_Mutation_p.W151*|GRIA4_uc009yxk.1_Nonsense_Mutation_p.W151*	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	151					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CACTACGAATGGAACTGTTTT	0.433000														80			89		0	0	0.000781405	0	0
TCEAL7	56849	broad.mit.edu	37	X	102586467	102586467	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:102586467G>A	uc022cbq.1	+	0	136	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	TCEAL7_uc004ekc.2_Missense_Mutation_p.E46K	NM_152278	NP_689491	Q9BRU2	TCAL7_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 7 (TCEAL7), mRNA.	46					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2						tcagtctctcgaagaatttaa	0.438000														25			16		0	0	0.000308642	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036637	13036637	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:13036637C>T	uc009vnq.1	+	1	709	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	237								p.R237H(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GAGGAATCTTCGCAAACTCTT	0.473000														195			25		0	0	0.000339439	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928403	43928403	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:43928403G>A	uc001zsh.3	-	7	1072	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.S286F|CATSPER2_uc001zsj.3_Missense_Mutation_p.S286F|AX748052_uc021ska.1_5'Flank	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	286					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGTTACCAGGGAATTCGGGAG	0.423000														53			13		0	0	0.000958276	0	0
ARMS2	387715	broad.mit.edu	37	10	124214457	124214457	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:124214457C>T	uc001lgi.3	+	0	279	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_001099667	NP_001093137	P0C7Q2	ARMS2_HUMAN	Homo sapiens age-related maculopathy susceptibility 2 (ARMS2), nuclear gene encoding mitochondrial protein, mRNA.	72					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCTAAAATCCACACTGAGCT	0.527000														32			6		0	0	3.59834e-05	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170180	207170181	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:207170180_207170181CC>TT	uc002vbp.2	+	4	1178_1179	c.928_929CC>TT	c.(928-930)ccg>TTg	p.P310L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	310							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						AGCAGTAAACCCGAATAAAACT	0.371000														43			8		0	0	6.4e-05	0	0
GPD2	2820	broad.mit.edu	37	2	157427695	157427695	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:157427695C>T	uc002tzf.4	+	12	2018	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	GPD2_uc010zch.2_Missense_Mutation_p.S326L|GPD2_uc002tzd.4_Missense_Mutation_p.S553L|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	553					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GATATGATTTCACGTCGTACT	0.418000														86			32		0	0	0.00058488	0	0
GLP2R	9340	broad.mit.edu	37	17	9765381	9765381	+	Silent	SNP	C	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:9765381C>A	uc002gmd.1	+	8	1030	c.1030C>A	c.(1030-1032)Cga>Aga	p.R344R		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	344					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.R344*(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTGGATCATCCGAGGACCCAT	0.502000														149			8		3.86212e-05	0.000496756	0.000673444	1	0
ANTXR1	84168	broad.mit.edu	37	2	69472523	69472523	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:69472523C>T	uc002sfg.3	+	17	1957	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	534	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cctcccatcccgtccccacct	0.711000									Familial Infantile Hemangioma					3			9		0	0	0.000274275	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622294	19622294	+	RNA	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:19622294G>A	uc001umb.1	-	9		c.3517C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		AGCAGGCGACGATGGGGGTGG	0.577000														7			5		0	0	0.000602214	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136799	55136799	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:55136799G>A	uc003han.4	+	8	1453	c.1122_splice	c.e8-1	p.R374_splice	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Splice_Site_p.R268_splice|PDGFRA_uc003ham.2_Splice_Site	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	374	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTTTTTAAAAGGTATCGAAGC	0.308000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				78			18		0	0	0.000958276	0	0
PTPRB	5787	broad.mit.edu	37	12	70986321	70986321	+	Silent	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:70986321G>T	uc001swb.4	-	4	897	c.867C>A	c.(865-867)ccC>ccA	p.P289P	PTPRB_uc010sto.2_Silent_p.P289P|PTPRB_uc010stp.2_Silent_p.P289P|PTPRB_uc001swc.4_Silent_p.P507P|PTPRB_uc001swa.4_Silent_p.P507P|PTPRB_uc001swd.4_Silent_p.P506P|PTPRB_uc009zrr.2_Silent_p.P386P|PTPRB_uc001swe.3_Silent_p.P507P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	289	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGACTTCCATGGGGGCTAATC	0.403000														39			23		3.01185e-09	3.94479e-08	0.000586117	1	0
PPFIA2	8499	broad.mit.edu	37	12	81693152	81693152	+	Silent	SNP	A	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:81693152A>C	uc001szo.2	-	22	2813	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.L810L|PPFIA2_uc021rbh.1_Silent_p.L785L|PPFIA2_uc021rbi.1_Silent_p.L884L|PPFIA2_uc021rbj.1_Silent_p.L884L|PPFIA2_uc021rbk.1_Silent_p.L869L|PPFIA2_uc021rbl.1_Silent_p.L884L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.L451L|PPFIA2_uc021rbf.1_Silent_p.L101L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	810										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTCTTCAAGAAGTTCATGCC	0.388000														8			3		0	0	0.00024832	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089779	115089779	+	Silent	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:115089779G>T	uc001vuv.3	+	2	794	c.462G>T	c.(460-462)ctG>ctT	p.L154L	CHAMP1_uc010tko.2_Silent_p.L154L|CHAMP1_uc010ahb.3_Silent_p.L154L|CHAMP1_uc021rmx.1_Silent_p.L154L	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	154	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TTACTCCCCTGGAGCCTCAGA	0.483000														145			8		0.000274275	0.00351727	0.000274275	1	0
TSNARE1	203062	broad.mit.edu	37	8	143395785	143395785	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:143395785G>A	uc003ywj.3	-	7	1130	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	TSNARE1_uc011lju.2_Missense_Mutation_p.S363F|TSNARE1_uc003ywk.3_Missense_Mutation_p.S364F|TSNARE1_uc003ywl.4_Missense_Mutation_p.S144F	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	364					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCGCTCTGGACTTTTCTGC	0.532000														24			7		0	0	0.000274275	0	0
GYS2	2998	broad.mit.edu	37	12	21699368	21699368	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:21699368G>A	uc001rfb.3	-	11	1714	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	487					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						GGTAGTAAGGGACTGGTGGAG	0.373000														30			8		0	0	0.000274275	0	0
SV2B	9899	broad.mit.edu	37	15	91835624	91835624	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:91835624G>A	uc002bqv.3	+	13	2785	c.1894G>A	c.(1894-1896)Gga>Aga	p.G632R	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G481R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	632					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CATTCTCAATGGATTATGCAA	0.448000														338			113		0	0	0.000781405	0	0
NXF3	56000	broad.mit.edu	37	X	102338384	102338384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:102338384C>T	uc004eju.3	-	4	553	c.482G>A	c.(481-483)aGc>aAc	p.S161N	NXF3_uc010noi.1_Missense_Mutation_p.S11N|NXF3_uc011mrw.1_Missense_Mutation_p.S161N|NXF3_uc011mrx.1_Missense_Mutation_p.S72N	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	161	RRM.					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						ATAGGCGATGCTGGCATTCTC	0.448000														24			21		0	0	0.000586117	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268851	30268851	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:30268851G>A	uc022buh.1	+	0	241	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	MAGEB1_uc004dcc.3_Missense_Mutation_p.E81K|MAGEB1_uc004dcd.3_Missense_Mutation_p.E81K|MAGEB1_uc004dce.3_Missense_Mutation_p.E81K	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	81										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGAATCTGACGAAGGTGCCAA	0.557000														6			5		0	0	3.59834e-05	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428833	142428833	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:142428833A>G	uc011ksk.1	+	1	210	c.193A>G	c.(193-195)Atc>Gtc	p.I65V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Missense_Mutation_p.I20V					SubName: Full=V_segment translation product; Flags: Fragment;																		GCTACGGCTGATCTATTTCTC	0.438000														20			6		0	0	0.000157383	0	0
AVPR1B	553	broad.mit.edu	37	1	206225010	206225010	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:206225010C>T	uc001hds.2	+	0	728	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	190					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGGCAGACTTCGGCTTCCCTT	0.632000														61			26		0	0	0.000878237	0	0
SYT16	83851	broad.mit.edu	37	14	62567122	62567122	+	Silent	SNP	A	G	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:62567122A>G	uc001xfu.1	+	5	1832	c.1635A>G	c.(1633-1635)ggA>ggG	p.G545G	SYT16_uc010tse.1_Silent_p.G103G	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	545	C2 2.							p.R545R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATACATATGGAAAACTCTTTC	0.433000														12			4		0	0	0.000602214	0	0
RNF114	55905	broad.mit.edu	37	20	48561960	48561960	+	Silent	SNP	C	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:48561960C>A	uc002xux.3	+	2	369	c.333C>A	c.(331-333)tcC>tcA	p.S111S	RNF114_uc002xuy.3_Non-coding_Transcript	NM_018683	NP_061153	Q9Y508	RN114_HUMAN	Homo sapiens ring finger protein 114 (RNF114), mRNA.	111					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CTACTTGTTCCAAATACCAGA	0.458000														47			21		1.77063e-15	2.34773e-14	0.000878237	1	0
SLC9C2	284525	broad.mit.edu	37	1	173499164	173499164	+	Silent	SNP	T	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:173499164T>A	uc001giz.2	-	17	2616	c.2193A>T	c.(2191-2193)gcA>gcT	p.A731A	SLC9C2_uc009wwe.2_Silent_p.A289A|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	731					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCTGCACATCTGCAATTCTTA	0.343000														46			16		0	0	0.000422831	0	0
GPR39	2863	broad.mit.edu	37	2	133175423	133175423	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:133175423G>A	uc002ttl.3	+	0	1277	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	270						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGAAGTCCGAGAGCGAAGA	0.617000														57			17		0	0	0.000132079	0	0
FBXO38	81545	broad.mit.edu	37	5	147796734	147796734	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:147796734C>T	uc003lpf.1	+	11	1705	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	FBXO38_uc003lpg.1_Silent_p.L529L|FBXO38_uc003lph.2_Silent_p.L529L	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	529						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGCAAGATCTGCAGCCAGG	0.428000														23			9		0	0	0.000978159	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431305	56431305	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:56431305G>A	uc010rjm.2	+	0	144	c.144G>A	c.(142-144)ctG>ctA	p.L48L	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L48L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGATTATCCTGATTACAACAG	0.478000														116			41		0	0	0.000680045	0	0
CHRM2	1129	broad.mit.edu	37	7	136700081	136700081	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:136700081C>T	uc003vtf.1	+	3	1092	c.469C>T	c.(469-471)Cca>Tca	p.P157S	CHRM2_uc003vtg.1_Missense_Mutation_p.P157S|CHRM2_uc003vti.1_Missense_Mutation_p.P157S|CHRM2_uc003vtm.1_Missense_Mutation_p.P157S|CHRM2_uc003vtj.1_Missense_Mutation_p.P157S|CHRM2_uc003vtk.1_Missense_Mutation_p.P157S|CHRM2_uc003vtl.1_Missense_Mutation_p.P157S|CHRM2_uc003vtn.1_Missense_Mutation_p.P157S|CHRM2_uc003vto.1_Missense_Mutation_p.P157S|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.P157S	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	157					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCTGGGCTCCAGCCATTCT	0.502000														77			25		0	0	0.000878237	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362371	72362371	+	Missense_Mutation	SNP	G	A	A	rs142987158		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:72362371G>A	uc002sih.1	-	2	607	c.607C>T	c.(607-609)Cct>Tct	p.P203S	CYP26B1_uc010yra.1_Missense_Mutation_p.P186S|CYP26B1_uc010yrb.1_Missense_Mutation_p.P128S	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	203					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.P203S(2)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCTCCTCAGGGATGCTGAAG	0.632000														55			14		0	0	0.000308642	0	0
MYH4	4622	broad.mit.edu	37	17	10358061	10358061	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:10358061C>T	uc002gmn.3	-	21	2613	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	834					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						AATACAGCTTCATCCAGGGCC	0.438000														69			19		0	0	0.000132079	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988324	103988324	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:103988324C>T	uc001kut.3	+	3	548	c.385_splice	c.e3+1	p.G129_splice		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	129					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	p.L128L(1)		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)		TCATAGAACTCGGTGAGTGGC	0.512000														66			25		0	0	0.000878237	0	0
DYSF	8291	broad.mit.edu	37	2	71730347	71730347	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:71730347C>T	uc010fen.3	+	3	384	c.243C>T	c.(241-243)ttC>ttT	p.F81F	DYSF_uc010fei.3_Silent_p.F80F|DYSF_uc010feh.3_Silent_p.F80F|DYSF_uc002sig.4_Silent_p.F80F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F80F|DYSF_uc010fee.3_Silent_p.F80F|DYSF_uc010fef.3_Silent_p.F80F|DYSF_uc002sie.3_Silent_p.F80F|DYSF_uc010feo.3_Silent_p.F81F|DYSF_uc010fej.3_Silent_p.F81F|DYSF_uc010fel.3_Silent_p.F81F|DYSF_uc010fem.3_Silent_p.F81F|DYSF_uc002sif.3_Silent_p.F81F|DYSF_uc010fek.3_Silent_p.F81F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	80	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.F80L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCTCAGGTTCCTGGGGGAAG	0.592000														91			22		0	0	0.000375601	0	0
ITGA4	3676	broad.mit.edu	37	2	182360646	182360646	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:182360646G>A	uc002unu.3	+	13	2285	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	508					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAGGGCAAGGAAGTTCCAGG	0.443000														64			17		0	0	0.000229342	0	0
ME2	4200	broad.mit.edu	37	18	48447032	48447032	+	Splice_Site	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:48447032G>T	uc002ley.3	+	9	1104	c.845_splice	c.e9-1	p.G282_splice	ME2_uc010dpd.3_Splice_Site_p.G282_splice	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	282					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTCTTACAGGGACAGCTGCAG	0.348000														58			18		9.16793e-09	1.19713e-07	0.000566183	1	0
CCDC90B	60492	broad.mit.edu	37	11	82985699	82985699	+	Silent	SNP	G	A	A	rs149725315		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:82985699G>A	uc001pae.3	-	3	771	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	CCDC90B_uc001pac.3_Silent_p.L36L|CCDC90B_uc001pad.3_Silent_p.L36L|CCDC90B_uc001paf.3_Silent_p.L128L	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	137						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCTGCTCTCAGATTTGCAAAT	0.308000														33			35		0	0	0.000692331	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481797	140481797	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:140481797G>A	uc003lio.3	+	0	1564	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	522	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTGCA	0.692000														36			10		0	0	0.000566183	0	0
OR5T1	390155	broad.mit.edu	37	11	56043536	56043536	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:56043536C>A	uc001nio.1	+	0	422	c.422C>A	c.(421-423)cCt>cAt	p.P141H		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATCTACAACCCTCTCCTGTAT	0.443000														166			9		3.86212e-05	0.000496756	0.000673444	1	0
PHKA2	5256	broad.mit.edu	37	X	18959728	18959728	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:18959728G>A	uc004cyv.4	-	7	1213	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Silent_p.S170S	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	261					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGAAATAATGGAAAGAAGTC	0.403000														14			21		0	0	0.000375601	0	0
MKI67	4288	broad.mit.edu	37	10	129901698	129901698	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:129901698G>A	uc001lke.3	-	12	8601	c.8406C>T	c.(8404-8406)ggC>ggT	p.G2802G	MKI67_uc001lkf.3_Silent_p.G2442G|MKI67_uc009yav.1_Silent_p.G2377G|MKI67_uc009yaw.1_Silent_p.G1952G	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2802	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTCTTTGAAGCCAGCTAGGT	0.507000														54			19		0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179453985	179453985	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179453985G>T	uc021vsy.1	-	252	54988	c.54763C>A	c.(54763-54765)Cgt>Agt	p.R18255S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11950S|TTN_uc021vta.1_Missense_Mutation_p.R11883S|TTN_uc021vtb.1_Missense_Mutation_p.R11758S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19182	Fibronectin type-III 32.						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)			GAATCAGCACGGGTATCAATC	0.453000														119			8		1.12685e-05	0.000145812	0.000274275	1	0
SEC24D	9871	broad.mit.edu	37	4	119736203	119736203	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:119736203G>A	uc003ici.4	-	5	1053	c.781C>T	c.(781-783)Cct>Tct	p.P261S	SEC24D_uc003icj.4_Missense_Mutation_p.P262S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	261	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAGTCAGGATCCAGCTTC	0.522000														60			30		0	0	0.000437636	0	0
TTN	7273	broad.mit.edu	37	2	179617872	179617872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179617872C>T	uc021vsy.1	-	44	10564	c.10339G>A	c.(10339-10341)Gag>Aag	p.E3447K	TTN_uc021vsz.1_Missense_Mutation_p.E3593K|TTN_uc021vta.1_Missense_Mutation_p.E3526K|TTN_uc021vtb.1_Missense_Mutation_p.E3401K|TTN_uc002umz.1_Missense_Mutation_p.E108K|TTN_uc002unb.2_Missense_Mutation_p.E3447K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4379							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)			ATCTCAATCTCTTGTTCAATC	0.294000														34			6		0	0	0.000274275	0	0
HSF1	3297	broad.mit.edu	37	8	145535747	145535747	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:145535747C>T	uc003zbt.4	+	8	1129	c.959C>T	c.(958-960)tCc>tTc	p.S320F	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	320						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CGCCCATCTTCCGTGGACACC	0.706000														44			14		0	0	0.000219431	0	0
RCAN2	10231	broad.mit.edu	37	2	174131075	174131075	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:174131075C>T	uc002uhz.3	+	19	2200	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACTGACACCTCTTCAGAGAGG	0.453000														63			26		0	0	0.000878237	0	0
OR51A4	401666	broad.mit.edu	37	11	4967488	4967488	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:4967488G>A	uc010qys.2	-	0	843	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACAAGTAGGAGAACATTTG	0.438000														139			23		0	0	0.000586117	0	0
HNRNPK	3190	broad.mit.edu	37	9	86588850	86588850	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:86588850G>A	uc004ang.4	-	7	593	c.369C>T	c.(367-369)ctC>ctT	p.L123L	HNRNPK_uc011lsw.2_5'UTR|HNRNPK_uc004and.4_5'UTR|HNRNPK_uc004anf.4_Silent_p.L123L|HNRNPK_uc004anh.4_Intron|HNRNPK_uc011lsx.2_Intron|HNRNPK_uc004anl.4_Silent_p.L123L|HNRNPK_uc004anm.4_Silent_p.L123L	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	123	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ATTCGAGCGGGAGCTGGCTGG	0.458000														33			9		0	0	0.000978159	0	0
POLD1	5424	broad.mit.edu	37	19	50912866	50912866	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:50912866C>T	uc010eny.3	+	15	2176	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	POLD1_uc002psb.4_Silent_p.S699S|POLD1_uc002psc.4_Silent_p.S699S|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	699					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCAACTCCGTATACGGCT	0.687000								DNA polymerases (catalytic subunits)						76			29		0	0	0.000339439	0	0
C1orf173	127254	broad.mit.edu	37	1	75101970	75101970	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:75101970G>A	uc001dgg.3	-	5	816	c.597C>T	c.(595-597)ccC>ccT	p.P199P	C1orf173_uc001dgi.4_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	199										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTACCCCAATGGGAAACAGAG	0.323000														72			26		0	0	0.00047179	0	0
NEDD4	4734	broad.mit.edu	37	15	56155176	56155176	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:56155176G>A	uc002adj.3	-	4	2166	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	NEDD4_uc002adl.3_Silent_p.I203I|NEDD4_uc002adi.3_Silent_p.I550I|NEDD4_uc010ugj.2_Silent_p.I606I|NEDD4_uc010bfm.3_Silent_p.I605I|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	622	Mediates interaction with TNIK (By similarity).|WW 1.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCCTTCCAAGGATATCCTGCC	0.463000														87			25		0	0	0.000720815	0	0
LOC650368	650368	broad.mit.edu	37	11	3423861	3423861	+	RNA	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:3423861C>T	uc010qxs.1	+	4		c.415C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		GACCCAGACACGGAGCGGTCG	0.657000														10			6		0	0	8.12818e-05	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	T	T	rs147405090		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:98509802C>T	uc003upp.3	+	17	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_uc011kis.2_Missense_Mutation_p.S722F|TRRAP_uc003upr.3_Missense_Mutation_p.S414F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	722					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|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(15)		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														49			28		0	0	0.000814825	0	0
ZNF536	9745	broad.mit.edu	37	19	31025837	31025837	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:31025837G>A	uc002nsu.1	+	2	2392	c.2254G>A	c.(2254-2256)Gac>Aac	p.D752N	ZNF536_uc010edd.1_Missense_Mutation_p.D752N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCCATGAAGGACTGCCCGTA	0.587000														69			12		0	0	0.000978159	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885116	88885116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:88885116C>T	uc003ydz.3	-	0	1181	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	362								p.D362Y(2)|p.N361N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTGGGAATGTCGTTCTCCGAG	0.627000														39			14		0	0	0.000219431	0	0
CHD1L	9557	broad.mit.edu	37	1	146740470	146740470	+	Missense_Mutation	SNP	G	T	T	rs140168816		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:146740470G>T	uc001epm.4	+	9	1081	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y	CHD1L_uc001epn.4_Missense_Mutation_p.D227Y|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Intron|CHD1L_uc010ozp.2_Missense_Mutation_p.D59Y|CHD1L_uc001epo.4_Missense_Mutation_p.D136Y|CHD1L_uc010ozq.1_5'UTR|CHD1L_uc009wji.3_Missense_Mutation_p.D59Y	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	340					DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGAAGTTGGAGACCACCTGAC	0.517000														56			17		7.87624e-14	1.04112e-12	0.000375601	1	0
AQP9	366	broad.mit.edu	37	15	58465346	58465346	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:58465346G>A	uc002aez.2	+	2	675	c.318G>A	c.(316-318)gtG>gtA	p.V106V	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Silent_p.V41V	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	106					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATTTTATGTGGGAGCCCAGT	0.488000														163			51		0	0	0.000781405	0	0
PCDH15	65217	broad.mit.edu	37	10	55955504	55955504	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:55955504G>A	uc010qhy.1	-	11	1654	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	PCDH15_uc010qhq.2_Missense_Mutation_p.S420L|PCDH15_uc010qhr.2_Missense_Mutation_p.S415L|PCDH15_uc021pqv.1_Missense_Mutation_p.S415L|PCDH15_uc021pqw.1_Missense_Mutation_p.S420L|PCDH15_uc010qht.2_Missense_Mutation_p.S415L|PCDH15_uc021pqx.1_Missense_Mutation_p.S415L|PCDH15_uc001jjv.1_Missense_Mutation_p.S393L|PCDH15_uc021pqy.1_Missense_Mutation_p.S415L|PCDH15_uc021pqz.1_Missense_Mutation_p.S393L|PCDH15_uc010qhv.1_Missense_Mutation_p.S415L|PCDH15_uc010qhw.1_Missense_Mutation_p.S378L|PCDH15_uc010qhx.1_Missense_Mutation_p.S415L|PCDH15_uc010qhz.1_Missense_Mutation_p.S415L|PCDH15_uc010qia.1_Missense_Mutation_p.S393L|PCDH15_uc001jju.1_Missense_Mutation_p.S415L|PCDH15_uc010qib.1_Missense_Mutation_p.S393L|PCDH15_uc001jjw.3_Missense_Mutation_p.S415L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	415	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGACTGTCCGAAATGGTTGC	0.373000										HNSCC(58;0.16)				67			22		0	0	0.000720815	0	0
KLHL32	114792	broad.mit.edu	37	6	97562161	97562162	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:97562161_97562162CC>TT	uc010kcm.1	+	6	1602_1603	c.1130_1131CC>TT	c.(1129-1131)tcc>tTT	p.S377F	KLHL32_uc003poy.3_Missense_Mutation_p.S377F|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.S341F|KLHL32_uc011eae.1_Missense_Mutation_p.S308F|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	377										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGCAGTAATTCCTGGGCAGAGA	0.569000														24			7		0	0	6.4e-05	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658038	46658038	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:46658038C>T	uc003bhh.3	-	0	1182	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	394	REJ.				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)		CTTCCTTGCTCCCCAGGATTA	0.562000														70			21		0	0	0.00047179	0	0
ACTN2	88	broad.mit.edu	37	1	236912437	236912437	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:236912437T>C	uc001hyf.2	+	13	1733	c.1529T>C	c.(1528-1530)tTg>tCg	p.L510S	ACTN2_uc001hyg.2_Missense_Mutation_p.L302S|ACTN2_uc009xgi.1_Missense_Mutation_p.L510S|ACTN2_uc010pxu.1_Missense_Mutation_p.L199S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	510					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATGGAGAAATTGCTAGAAACC	0.398000														42			11		0	0	0.000151284	0	0
FAM5C	339479	broad.mit.edu	37	1	190068158	190068158	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:190068158C>T	uc001gse.1	-	7	1523	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	FAM5C_uc010pot.1_Missense_Mutation_p.D329N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	431						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ACCACCTGGTCATTCGGACAC	0.592000														19			5		0	0	8.12818e-05	0	0
PSG9	5678	broad.mit.edu	37	19	43763094	43763094	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:43763094C>T	uc002owd.4	-	3	1002	c.903G>A	c.(901-903)acG>acA	p.T301T	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Silent_p.T208T|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	301	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTTCATTTCTCGTGACACTGG	0.488000														134			35		0	0	0.000374591	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				110			58		0	0	0.000781405	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679735	219679735	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:219679735C>T	uc002viz.4	+	8	2012	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	526					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.Q525Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GCCTGCAGTTCCTGCAGAGAC	0.587000														26			15		0	0	0.000308642	0	0
PROSER1	80209	broad.mit.edu	37	13	39587605	39587605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:39587605G>A	uc001uwy.3	-	10	2657	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	PROSER1_uc001uwz.3_Missense_Mutation_p.S573L	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	595	Ser-rich.																AGGGGTAGATGAAATATGCAG	0.542000														110			40		0	0	0.000589545	0	0
SCN2A	6326	broad.mit.edu	37	2	166221774	166221774	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:166221774G>A	uc002udc.3	+	18	3810	c.3520_splice	c.e18+1	p.D1174_splice	SCN2A_uc002udd.3_Splice_Site_p.D1174_splice|SCN2A_uc002ude.3_Splice_Site_p.D1174_splice	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1174					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)	TTTACAGAAGGTAAGCAAAAC	0.408000														44			17		0	0	0.000175454	0	0
DGKE	8526	broad.mit.edu	37	17	54939580	54939580	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:54939580C>T	uc002iur.3	+	10	1672	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	DGKE_uc002ius.1_Missense_Mutation_p.P498S	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	498					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ACTGGCTAATCCTTTTCGAAT	0.393000														38			8		0	0	0.000978159	0	0
CDH20	28316	broad.mit.edu	37	18	59174790	59174790	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:59174790G>A	uc010dps.1	+	4	1166	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	CDH20_uc002lif.2_Silent_p.K332K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TAACTGTGAAGAAGGTAATCC	0.368000														40			7		0	0	0.000157383	0	0
TRRAP	8295	broad.mit.edu	37	7	98559084	98559084	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:98559084C>T	uc003upp.3	+	44	6878	c.6669C>T	c.(6667-6669)ttC>ttT	p.F2223F	TRRAP_uc011kis.2_Silent_p.F2205F|TRRAP_uc003upr.3_Silent_p.F1922F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2223	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGCATTTTCCCAACAGAGC	0.547000														41			26		0	0	0.000720815	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887329	12887329	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:12887329C>T	uc001auk.2	-	2	724	c.528G>A	c.(526-528)tgG>tgA	p.W176*		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	176										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGGCAGTATCCACTTGCAAT	0.483000														234			71		0	0	0.000781405	0	0
F2	2147	broad.mit.edu	37	11	46747541	46747541	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:46747541G>A	uc001ndf.4	+	6	735	c.692G>A	c.(691-693)gGg>gAg	p.G231E		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	231	Kringle 2.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCACACATGGGCTCCCCTGC	0.642000														29			15		0	0	0.000422831	0	0
COL28A1	340267	broad.mit.edu	37	7	7516754	7516754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:7516754G>A	uc003src.1	-	13	1339	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S	COL28A1_uc011jxe.1_Missense_Mutation_p.P91S|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	408					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTTGGTCCTGGAAATCCTTCT	0.458000														71			27		0	0	0.000409698	0	0
CBLB	868	broad.mit.edu	37	3	105421148	105421149	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:105421148_105421149GG>AA	uc003dwc.3	-	11	2070_2071	c.1748_1749CC>TT	c.(1747-1749)tcc>tTT	p.S583F	CBLB_uc011bhi.2_Missense_Mutation_p.S605F|CBLB_uc003dwd.2_Missense_Mutation_p.S583F|CBLB_uc003dwe.2_Missense_Mutation_p.S583F	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	583	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCGGGTCTCTGGAAGGCACGCT	0.545000			Mis S		AML									39			9		0	0	6.4e-05	0	0
C22orf42	150297	broad.mit.edu	37	22	32554993	32554993	+	Silent	SNP	C	T	T	rs138905164	byFrequency	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:32554993C>T	uc003amd.3	-	0	251	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	70								p.T69S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCAGCATCTTCGGCGTCTTCG	0.557000														158			54		0	0	0.000781405	0	0
PRR15L	79170	broad.mit.edu	37	17	46030312	46030312	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:46030312C>T	uc002imp.3	-	1	406	c.289G>A	c.(289-291)Gag>Aag	p.E97K	PRR15L_uc021tzd.1_Missense_Mutation_p.E97K	NM_024320	NP_077296	Q9BU68	PR15L_HUMAN	Homo sapiens proline rich 15-like (PRR15L), mRNA.	97								p.H96Q(1)		NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						CGTCCTTCCTCGTGATCATCA	0.557000														52			17		0	0	0.000175454	0	0
FRY	10129	broad.mit.edu	37	13	32818254	32818254	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:32818254C>T	uc001utx.3	+	46	7259	c.6763C>T	c.(6763-6765)Ctt>Ttt	p.L2255F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTACATGGACCTTTCTGTCGT	0.498000														45			13		0	0	0.000151284	0	0
SLC7A2	6542	broad.mit.edu	37	8	17412158	17412158	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:17412158C>T	uc011kye.2	+	6	1313	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	SLC7A2_uc011kyc.2_Missense_Mutation_p.S382F|SLC7A2_uc011kyd.2_Intron	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	382					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAAATCAATTCCAAAACGAAG	0.413000														112			36		0	0	0.00111076	0	0
KRT37	8688	broad.mit.edu	37	17	39578598	39578598	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:39578598C>T	uc002hwp.1	-	3	868	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	274	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCGCATCTCCCCCAACACCCT	0.572000														89			38		0	0	0.00111076	0	0
CSMD2	114784	broad.mit.edu	37	1	34008417	34008417	+	Silent	SNP	G	A	A	rs138523089	byFrequency	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:34008417G>A	uc001bxm.1	-	57	9357	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I	CSMD2_uc001bxn.1_Silent_p.I2916I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3034	Sushi 23.					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)				ACTCATAGACGATAGAGCTGG	0.542000														34			13		0	0	0.00010058	0	0
ATAD5	79915	broad.mit.edu	37	17	29220966	29220966	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:29220966G>A	uc002hfs.1	+	20	5438	c.5095G>A	c.(5095-5097)Gga>Aga	p.G1699R		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1699					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGTAATGATGGATGGACTTC	0.378000														71			35		0	0	0.00111076	0	0
CASS4	57091	broad.mit.edu	37	20	55027409	55027409	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:55027409C>T	uc002xxp.2	+	5	1402	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	CASS4_uc002xxq.4_Missense_Mutation_p.P393S|CASS4_uc010zze.1_Missense_Mutation_p.P339S|CASS4_uc002xxr.2_Missense_Mutation_p.P393S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	393	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCCCCATCTCCTGAACCGGA	0.547000														31			10		0	0	0.000978159	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415243	210415243	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:210415243G>A	uc001hhy.3	+	3	811	c.632G>A	c.(631-633)gGa>gAa	p.G211E	SERTAD4_uc009xcw.3_Missense_Mutation_p.G211E	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	211							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GCTAATGTTGGAAGTGCCTCC	0.507000														117			47		0	0	0.000781405	0	0
AQP9	366	broad.mit.edu	37	15	58430858	58430858	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:58430858G>A	uc002aez.2	+	0	451	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Intron	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	32					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGAGTTCTTGGGCACGTTCAT	0.473000														80			25		0	0	0.000339439	0	0
SLC12A6	9990	broad.mit.edu	37	15	34529692	34529692	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:34529692G>A	uc001zhw.3	-	20	3026	c.2862C>T	c.(2860-2862)atC>atT	p.I954I	SLC12A6_uc001zhv.3_Silent_p.I903I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.I939I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.I895I|SLC12A6_uc001zib.3_Silent_p.I945I|SLC12A6_uc001zic.3_Silent_p.I954I|SLC12A6_uc010bau.3_Silent_p.I954I|SLC12A6_uc001zid.3_Silent_p.I895I|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.I766I	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	954					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCTTCATTTGGATACTGTTGT	0.448000														48			16		0	0	0.00074312	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449585	105449585	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:105449585G>A	uc022cca.1	+	0	160	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	MUM1L1_uc004emg.2_Missense_Mutation_p.E54K|MUM1L1_uc004emf.2_Missense_Mutation_p.E54K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	54										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGACAGCACAGAAACAAAGAT	0.388000														11			8		0	0	0.000157383	0	0
LHCGR	3973	broad.mit.edu	37	2	48958405	48958405	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:48958405G>A	uc002rwu.4	-	1	264	c.194C>T	c.(193-195)cCa>cTa	p.P65L	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	65	LRRNT.				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTTGAGATGGGATCACTTT	0.328000														92			30		0	0	0.000319135	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601033	64601033	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:64601033G>A	uc003dmg.3	-	20	3185	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	ADAMTS9_uc011bfo.2_Silent_p.F1023F|ADAMTS9_uc003dmh.1_Silent_p.F880F|ADAMTS9_uc003dmk.1_Silent_p.F1051F|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1051					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGGACAAGGGAACTCACTGC	0.458000														327			109		0	0	0.000781405	0	0
PAMR1	25891	broad.mit.edu	37	11	35456129	35456129	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:35456129G>A	uc001mwf.3	-	10	1651	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	PAMR1_uc001mwg.3_Silent_p.D519D|PAMR1_uc010rew.2_Silent_p.D408D|PAMR1_uc010rex.2_Silent_p.D479D	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	519	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D536Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAACTTTCAGGTCTGCTGTCT	0.552000														76			23		0	0	0.00106085	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73961560	73961560	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:73961560C>T	uc003uaq.3	+	16	2253	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	GTF2IRD1_uc010lbq.3_Silent_p.I652I|GTF2IRD1_uc003uap.3_Silent_p.I620I|GTF2IRD1_uc003uar.1_Silent_p.I620I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	620						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTTCGGGATCGCCAAGCTCC	0.592000														16			8		0	0	0.000442599	0	0
BAGE	574	broad.mit.edu	37	21	11058322	11058322	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								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)		AAATGCACATCGCTGAAAGGG	0.383000														163			15		0	0	0.000422831	0	0
FLG	2312	broad.mit.edu	37	1	152284730	152284730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152284730C>T	uc001ezu.1	-	2	2668	c.2632G>A	c.(2632-2634)Gga>Aga	p.G878R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	878	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)			TCAGACCTTCCCTGGGATGTG	0.582000									Ichthyosis					320			12		0	0	0.000295444	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296076	233296076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:233296076G>A	uc001hvl.2	-	18	3705	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1157						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATGGGGTGTGAAATCCACAT	0.443000														42			15		0	0	0.000422831	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870848	12870848	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:12870848C>T	uc001ilo.3	+	10	1355	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	374						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)		GAGACCCAGGCCCACCACTGT	0.647000														179			49		0	0	0.000781405	0	0
CD200R1	131450	broad.mit.edu	37	3	112647750	112647750	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:112647750G>A	uc003dzj.1	-	4	915	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	CD200R1_uc003dzk.1_Missense_Mutation_p.H205Y|CD200R1_uc011bhx.1_Missense_Mutation_p.H183Y	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	205	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACCTCCCAGTGGCATGTACTC	0.507000														33			7		0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9077726	9077726	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:9077726G>A	uc002mkp.3	-	2	9924	c.9720C>T	c.(9718-9720)acC>acT	p.T3240T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3241	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						GTTCCACTGTGGTCTCCATGG	0.527000														118			44		0	0	0.000781405	0	0
ZNF883	169834	broad.mit.edu	37	9	115760080	115760080	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:115760080C>T	uc011lwy.2	-	4	1699	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCAGTACATTCATATGGTTTC	0.403000														32			20		0	0	0.000958276	0	0
PAX2	5076	broad.mit.edu	37	10	102587325	102587325	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:102587325C>T	uc001krk.4	+	10	1734	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L	PAX2_uc001krm.4_Silent_p.A401A|PAX2_uc001krn.4_Missense_Mutation_p.P372L|PAX2_uc001kro.4_Silent_p.A378A|PAX2_uc010qps.2_Silent_p.A377A|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	395					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		ATAGTGCCGCCCCCCGGGGCT	0.572000														75			20		0	0	0.000720815	0	0
CD34	947	broad.mit.edu	37	1	208062929	208062929	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:208062929C>T	uc001hgw.1	-	4	893	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CD34_uc001hgv.1_Missense_Mutation_p.R54Q|CD34_uc001hgx.1_Missense_Mutation_p.R212Q|CD34_uc010psj.1_Missense_Mutation_p.R77Q	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	212					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACACAGCACTCGGGCCAGGCC	0.582000														39			18		0	0	0.000132079	0	0
KCNK10	54207	broad.mit.edu	37	14	88652268	88652268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:88652268C>T	uc001xwm.3	-	6	1365	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	KCNK10_uc001xwn.3_Missense_Mutation_p.A415T|KCNK10_uc001xwo.3_Missense_Mutation_p.A410T	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	410					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGGATGAGGCCTTGAAGCGG	0.662000														48			16		0	0	0.000132079	0	0
CCDC141	285025	broad.mit.edu	37	2	179732794	179732794	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179732794G>A	uc002une.2	-	15	2651	c.2533C>T	c.(2533-2535)Ctt>Ttt	p.L845F	CCDC141_uc002unf.1_Missense_Mutation_p.L324F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	270	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTAAGGAAAGGGCCAGTCTG	0.517000														36			9		0	0	0.000673444	0	0
LIF	3976	broad.mit.edu	37	22	30639731	30639731	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:30639731G>A	uc003agz.2	-	2	630	c.518C>T	c.(517-519)tCg>tTg	p.S173L	LIF_uc011aks.1_3'UTR|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	173					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			ATCCTTACCCGAGGTGTCAGG	0.597000														56			12		0	0	0.000151284	0	0
C1QL3	389941	broad.mit.edu	37	10	16556625	16556625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:16556625C>T	uc001ioj.1	-	1	1610	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	224	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACTTCATCTCCCGGCTCCAAA	0.418000														51			15		0	0	0.000566183	0	0
NSUN7	79730	broad.mit.edu	37	4	40810384	40810384	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:40810384C>T	uc003gvj.4	+	11	2080	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	NSUN7_uc003gvi.4_3'UTR	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCCAAGGGTCTGCTGGATGG	0.433000														55			15		0	0	0.000422831	0	0
NUAK1	9891	broad.mit.edu	37	12	106464638	106464638	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:106464638C>T	uc001tlj.1	-	5	2126	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	249	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGGCATTGTTCCATAAACAAG	0.537000														34			9		0	0	0.000274275	0	0
ABCA13	154664	broad.mit.edu	37	7	48315712	48315712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:48315712C>T	uc003toq.2	+	16	6473	c.6449C>T	c.(6448-6450)aCc>aTc	p.T2150I	ABCA13_uc010kyr.2_Missense_Mutation_p.T1653I|ABCA13_uc022acp.1_Missense_Mutation_p.T649I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2150					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						ATTCCTGTGACCAATGAGAGT	0.333000														14			7		0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179456933	179456933	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179456933C>T	uc021vsy.1	-	250	52219	c.51994G>A	c.(51994-51996)Gaa>Aaa	p.E17332K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11027K|TTN_uc021vta.1_Missense_Mutation_p.E10960K|TTN_uc021vtb.1_Missense_Mutation_p.E10835K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18259	Fibronectin type-III 25.						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)			TCCAGTGGTTCTTTCCAAGTA	0.408000														12			4		0	0	0.000602214	0	0
KCNK3	3777	broad.mit.edu	37	2	26950541	26950541	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:26950541G>A	uc002rhn.2	+	1	453	c.290G>A	c.(289-291)gGg>gAg	p.G97E		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	97					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGCTACGGGCACGCGGCA	0.627000														168			39		0	0	0.000781405	0	0
KIAA1524	57650	broad.mit.edu	37	3	108281983	108281983	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:108281983G>A	uc003dxb.4	-	12	1893	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	KIAA1524_uc010hpv.1_Missense_Mutation_p.P109S	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	542						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTAAAGCAGGAAAATCTGGC	0.393000														97			36		0	0	0.000814825	0	0
FANCM	57697	broad.mit.edu	37	14	45628328	45628328	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:45628328G>T	uc001wwd.4	+	8	1525	c.1426G>T	c.(1426-1428)Gag>Tag	p.E476*	FANCM_uc001wwc.2_Nonsense_Mutation_p.E476*|FANCM_uc010anf.3_Nonsense_Mutation_p.E450*|FANCM_uc001wwe.4_Nonsense_Mutation_p.E81*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	476	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACGTGATGAGACCCGAGT	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					10			8		7.48243e-07	9.74076e-06	0.000442599	1	0
TAS2R38	5726	broad.mit.edu	37	7	141673118	141673118	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:141673118G>A	uc003vwx.1	-	0	456	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	124					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGGTGTGAGAGAAACGGATGA	0.522000														25			8		0	0	0.000157383	0	0
ZNF800	168850	broad.mit.edu	37	7	127017364	127017364	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:127017364A>T	uc010lla.2	-	3	889	c.177T>A	c.(175-177)caT>caA	p.H59Q	ZNF800_uc003vlw.1_5'UTR|ZNF800_uc003vlx.1_Missense_Mutation_p.H59Q|ZNF800_uc003vly.1_Missense_Mutation_p.H59Q	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTAATAAAATATGCTTAAGTT	0.313000														45			5		0	0	3.59834e-05	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894629	47894629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:47894629C>T	uc003tny.2	-	29	4744	c.4710G>A	c.(4708-4710)agG>agA	p.R1570R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1570	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTTATTTCTCCTATTATCCT	0.358000														46			12		0	0	0.000219431	0	0
ITLN2	142683	broad.mit.edu	37	1	160920977	160920977	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:160920977C>T	uc001fxd.3	-	3	355	c.297G>A	c.(295-297)gaG>gaA	p.E99E	ITLN2_uc009wts.3_Silent_p.E98E|ITLN2_uc010pju.2_Silent_p.E16E	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	99	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCATGTCATTCTCGTGCACGC	0.582000														26			8		0	0	0.000274275	0	0
MYO18B	84700	broad.mit.edu	37	22	26423117	26423117	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:26423117G>A	uc003abz.1	+	42	7427	c.7177G>A	c.(7177-7179)Gat>Aat	p.D2393N	MYO18B_uc003aca.1_Missense_Mutation_p.D2274N|MYO18B_uc010guy.1_Missense_Mutation_p.D2275N|MYO18B_uc010guz.1_Missense_Mutation_p.D2273N|MYO18B_uc011aka.1_Missense_Mutation_p.D1547N|MYO18B_uc011akb.1_Missense_Mutation_p.D1906N|MYO18B_uc010gva.1_Missense_Mutation_p.D376N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2393						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTGTGGACGATGCGGGCTG	0.597000														32			11		0	0	0.000673444	0	0
ISL2	64843	broad.mit.edu	37	15	76630278	76630278	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:76630278G>A	uc002bbw.1	+	1	296	c.218G>A	c.(217-219)gGg>gAg	p.G73E	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	73	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GTGAGAGACGGGAAGACCTAC	0.711000														34			8		0	0	0.000274275	0	0
C4orf37	285555	broad.mit.edu	37	4	98762039	98762039	+	Silent	SNP	C	T	T	rs142342055		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:98762039C>T	uc003htt.2	-	8	1179	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	363										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CTTGGGACATCTCATATGATT	0.358000														103			26		0	0	0.000720815	0	0
SETD1A	9739	broad.mit.edu	37	16	30976275	30976275	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr16:30976275C>T	uc002ead.1	+	6	1898	c.1212C>T	c.(1210-1212)cgC>cgT	p.R404R		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	404	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGCTGAGCGCTTCCCACCTT	0.652000														74			27		0	0	0.000227799	0	0
PARD3B	117583	broad.mit.edu	37	2	205986545	205986545	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:205986545C>T	uc002var.2	+	7	1244	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	PARD3B_uc010fub.2_Missense_Mutation_p.S346F|PARD3B_uc002vao.2_Missense_Mutation_p.S346F|PARD3B_uc002vap.2_Missense_Mutation_p.S346F|PARD3B_uc002vaq.2_Missense_Mutation_p.S346F	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	346					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCATCAGCTTCCCTGCAACAA	0.488000														38			11		0	0	0.000673444	0	0
FAM135B	51059	broad.mit.edu	37	8	139164357	139164357	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:139164357G>T	uc003yuy.3	-	12	2532	c.2361C>A	c.(2359-2361)gaC>gaA	p.D787E	FAM135B_uc003yux.3_Missense_Mutation_p.D688E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.D349E|FAM135B_uc003yvb.3_Missense_Mutation_p.D349E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	787								p.D787Y(1)|p.A786T(1)|p.D787N(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTGCTTGGTGTCCGCATCTT	0.517000										HNSCC(54;0.14)				31			7		1.12685e-05	0.000145812	0.000274275	1	0
MYOCD	93649	broad.mit.edu	37	17	12666526	12666526	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:12666526C>T	uc002gno.2	+	13	2825	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	MYOCD_uc002gnn.2_Silent_p.I794I|MYOCD_uc002gnq.2_Silent_p.I518I	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	794					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCCAGATCCCCTTTGATC	0.483000														81			25		0	0	0.00106085	0	0
CDH9	1007	broad.mit.edu	37	5	26915795	26915795	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:26915795C>T	uc003jgs.1	-	2	635	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CDH9_uc010iug.3_Missense_Mutation_p.E156K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	156	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATTTTGGCTCATTGTCATTG	0.373000														84			36		0	0	0.00111076	0	0
OR4K15	81127	broad.mit.edu	37	14	20444148	20444148	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:20444148G>A	uc010tkx.2	+	0	471	c.471G>A	c.(469-471)atG>atA	p.M157I		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y156*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCACTACATGACAGTCATGA	0.453000														97			36		0	0	0.000692331	0	0
C1orf87	127795	broad.mit.edu	37	1	60456397	60456397	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:60456397G>A	uc001czs.2	-	11	1697	c.1589C>T	c.(1588-1590)tCg>tTg	p.S530L	C1orf87_uc001czr.1_Missense_Mutation_p.S122L	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	530							calcium ion binding	p.S530L(2)|p.S530S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTTTCTCCCGAACGGAATCT	0.473000														161			55		0	0	0.000781405	0	0
KRT3	3850	broad.mit.edu	37	12	53189282	53189282	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:53189282G>A	uc001say.3	-	0	611	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	182	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CACATTGAGGGGCTGCAGGAG	0.562000														27			10		0	0	0.00010058	0	0
CCR2	729230	broad.mit.edu	37	3	46399601	46399601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:46399601C>T	uc003cpn.4	+	1	1068	c.583C>T	c.(583-585)Cca>Tca	p.P195S	CCR2_uc003cpm.4_Missense_Mutation_p.P195S|CCR2_uc021wxa.1_Missense_Mutation_p.P195S	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	195					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCCTTATTTTCCACGAGGATG	0.453000														294			99		0	0	0.000781405	0	0
MRPL54	116541	broad.mit.edu	37	19	3762778	3762778	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:3762778C>T	uc002lyq.4	+	0	114	c.80C>T	c.(79-81)tCc>tTc	p.S27F	APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.	27						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCCACTTCCGGAAGACTC	0.622000														50			16		0	0	0.000175454	0	0
HELB	92797	broad.mit.edu	37	12	66700177	66700177	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:66700177C>T	uc001sti.2	+	2	688	c.660C>T	c.(658-660)ttC>ttT	p.F220F	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	220					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAATGGAATTCCTTCCAGTTC	0.368000														76			23		0	0	0.000375601	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:55798785G>A	uc010riw.2	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000														54			16		0	0	0.000308642	0	0
GPC5	2262	broad.mit.edu	37	13	92408650	92408650	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:92408650G>A	uc010tif.2	+	4	1622	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	419						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTCCCTGCTGGAATGGAGAA	0.388000														60			19		0	0	0.000295444	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573066	140573066	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:140573066C>T	uc003lix.3	+	0	1115	c.941C>T	c.(940-942)tCt>tTt	p.S314F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	314	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGTAAATTCTTACAAAATA	0.373000														36			13		0	0	0.00010058	0	0
ABCC9	10060	broad.mit.edu	37	12	21954097	21954097	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:21954097G>A	uc001rfh.3	-	37	4551	c.4531C>T	c.(4531-4533)Ctg>Ttg	p.L1511L		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1511	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGCCGTCAGAATAGTGTGT	0.378000														45			21		0	0	0.000878237	0	0
OR4F17	81099	broad.mit.edu	37	19	110702	110702	+	Silent	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:110702G>T	uc002loc.1	+	0	24	c.24G>T	c.(22-24)ctG>ctT	p.L8L	OR4F17_uc002lob.1_Silent_p.L8L	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F7S(1)		lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATTTTTCTGGGTCTCTCTG	0.393000														297			12		0.000566183	0.00723906	0.000566183	1	0
PAPPA	5069	broad.mit.edu	37	9	119115959	119115959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:119115959C>T	uc004bjn.3	+	16	4615	c.4234C>T	c.(4234-4236)Cct>Tct	p.P1412S	PAPPA_uc011lxq.2_Missense_Mutation_p.P787S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1412	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTTGTGTTCCTGTGACCTG	0.507000														34			21		0	0	0.000229342	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813599	24813600	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:24813599_24813600CC>TT	uc001iru.4	+	12	3207_3208	c.2804_2805CC>TT	c.(2803-2805)tcc>tTT	p.S935F	KIAA1217_uc001irs.3_Missense_Mutation_p.S855F|KIAA1217_uc001irt.4_Missense_Mutation_p.S900F|KIAA1217_uc010qcy.2_Missense_Mutation_p.S900F|KIAA1217_uc010qcz.2_Missense_Mutation_p.S900F|KIAA1217_uc001irv.1_Missense_Mutation_p.S750F|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.S618F|KIAA1217_uc001irz.3_Missense_Mutation_p.S618F|KIAA1217_uc001irx.3_Missense_Mutation_p.S618F|KIAA1217_uc001iry.3_Missense_Mutation_p.S618F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	935					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						GCTCCGCAGTCCCCACAGATAC	0.574000														34			5		0	0	6.4e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11726147	11726147	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:11726147C>T	uc002gne.3	+	47	9110	c.9042C>T	c.(9040-9042)ttC>ttT	p.F3014F	DNAH9_uc010coo.3_Silent_p.F2308F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3014	AAA 4 (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	p.K3013*(1)		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)		TTAGCAAATTCATGGCCTTTG	0.433000														75			25		0	0	0.000720815	0	0
ITIH2	3698	broad.mit.edu	37	10	7786092	7786092	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:7786092G>A	uc001ijs.3	+	17	2419	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	753					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCCCAACAATGGAAAACTAAG	0.388000														25			17		0	0	0.000958276	0	0
CCDC33	80125	broad.mit.edu	37	15	74625065	74625065	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:74625065G>A	uc002axo.3	+	15	2211	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	CCDC33_uc002axp.3_Missense_Mutation_p.G428E|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.G199E|CCDC33_uc002axr.3_Missense_Mutation_p.G199E	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	809							protein binding	p.M605I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTTCTATGGGAGAGAACCTG	0.582000														97			38		0	0	0.000781405	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629920	9629920	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:9629920G>A	uc003jem.1	-	0	544	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	75					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AACACATGATGAATTCTATGA	0.393000														25			7		0	0	8.12818e-05	0	0
ZNF777	27153	broad.mit.edu	37	7	149129502	149129502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:149129502G>A	uc003wfv.3	-	5	2024	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTGACTTGGGACGCGGCTTG	0.667000														100			33		0	0	0.000270559	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074961	34074961	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:34074961G>A	uc002hjv.2	-	3	767	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	247	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTTCCGGAGGATCTGAGGG	0.632000											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			5		0	0	8.12818e-05	0	0
MPP7	143098	broad.mit.edu	37	10	28414002	28414002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:28414002C>T	uc001iua.1	-	8	870	c.466G>A	c.(466-468)Gat>Aat	p.D156N	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.D156N|MPP7_uc009xla.2_Missense_Mutation_p.D156N|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	156	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCTGTTCATCCTTCTTAATG	0.403000														54			13		0	0	0.000422831	0	0
ARVCF	421	broad.mit.edu	37	22	19969131	19969131	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr22:19969131A>G	uc002zqz.3	-	4	769	c.499T>C	c.(499-501)Ttc>Ctc	p.F167L	ARVCF_uc002zqy.3_5'Flank	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	167					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGCAGCAGGAAATGCCGGTCC	0.687000														37			11		0	0	0.00010058	0	0
NEMF	9147	broad.mit.edu	37	14	50298965	50298965	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:50298965G>A	uc010anj.1	-	8	834	c.766C>T	c.(766-768)Cca>Tca	p.P256S	NEMF_uc001wxc.3_Missense_Mutation_p.P256S|NEMF_uc010tqi.2_Missense_Mutation_p.P256S|NEMF_uc001wxe.2_Missense_Mutation_p.P214S|NEMF_uc001wxd.1_5'Flank|NEMF_uc010anq.1_Missense_Mutation_p.P27S	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	256						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TCCAAGCTTGGTTTTATTTCT	0.299000														64			12		0	0	0.000219431	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209922	65209922	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:65209922G>A	uc001xhp.2	+	16	3563	c.3524G>A	c.(3523-3525)tGc>tAc	p.C1175Y	PLEKHG3_uc001xhn.1_Missense_Mutation_p.C998Y|PLEKHG3_uc001xho.1_Missense_Mutation_p.C1054Y|PLEKHG3_uc010aqh.1_Missense_Mutation_p.C596Y|PLEKHG3_uc001xhq.1_Missense_Mutation_p.C559Y	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1054					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGTGAGCTCTGCTCCAAGTAT	0.721000														55			13		0	0	0.000219431	0	0
NLRP14	338323	broad.mit.edu	37	11	7064319	7064319	+	Silent	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:7064319T>C	uc001mfb.1	+	3	1385	c.1062T>C	c.(1060-1062)agT>agC	p.S354S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	354	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)		AAGTATTCAGTTCACTAAAAA	0.443000														81			18		0	0	0.000958276	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791943	8791943	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:8791943C>T	uc002glt.3	-	9	1228	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	PIK3R5_uc010vuz.2_Missense_Mutation_p.M387I|PIK3R5_uc021tqc.1_Missense_Mutation_p.M1I|PIK3R5_uc010cob.2_Missense_Mutation_p.M1I|PIK3R5_uc010coa.2_Missense_Mutation_p.M1I|PIK3R5_uc002glu.4_Missense_Mutation_p.M1I	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	387					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGCCGCTGTCCATGCCATCAG	0.662000														21			8		0	0	0.000157383	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054985	4054985	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:4054985G>A	uc002lzh.3	-	1	321	c.246C>T	c.(244-246)gcC>gcT	p.A82A	ZBTB7A_uc002lzi.3_Silent_p.A82A	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	82	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCGCCTCGGCGCTGACGA	0.657000														11			6		0	0	3.59834e-05	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466712	96466712	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:96466712G>A	uc001kjv.4	+	4	1140	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	272					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GATCAAAATGGAACAGGTAAA	0.348000														32			9		0	0	0.00010058	0	0
RYR3	6263	broad.mit.edu	37	15	33855189	33855189	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:33855189G>A	uc001zhi.3	+	10	1194	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RYR3_uc010bar.3_Missense_Mutation_p.R375H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	375	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R375H(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAACTTCCCGCCTGGGACCT	0.448000														73			30		0	0	0.000409698	0	0
VPS13D	55187	broad.mit.edu	37	1	12374213	12374213	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:12374213C>T	uc001atv.3	+	29	7118	c.6977C>T	c.(6976-6978)tCc>tTc	p.S2326F	VPS13D_uc001atw.3_Missense_Mutation_p.S2326F|VPS13D_uc001atx.3_Missense_Mutation_p.S1514F|VPS13D_uc001aty.1_Missense_Mutation_p.S64F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2326					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAAGTTTTTCCAACCAAACC	0.403000														45			10		0	0	0.000978159	0	0
AQP9	366	broad.mit.edu	37	15	58465319	58465319	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:58465319G>A	uc002aez.2	+	2	648	c.291G>A	c.(289-291)atG>atA	p.M97I	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.M32I	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	97					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.R96L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTGGACGGATGAAATGGTTCA	0.478000														196			65		0	0	0.000781405	0	0
ARID5A	10865	broad.mit.edu	37	2	97217381	97217381	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:97217381G>C	uc002swe.3	+	6	1216	c.1116G>C	c.(1114-1116)ttG>ttC	p.L372F	ARID5A_uc010yuq.2_Missense_Mutation_p.L320F|ARID5A_uc002swf.3_Missense_Mutation_p.L208F|ARID5A_uc002swg.3_Missense_Mutation_p.L320F	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.L372L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGGTGCTATTGGGGCCTCCTG	0.587000														8			5		0	0	3.59834e-05	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407478	75407478	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:75407478C>T	uc001jut.4	-	3	2084	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	SYNPO2L_uc001jus.4_Silent_p.T420T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	644	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGAGTTCTTCGTCTCCTCCT	0.637000														121			50		0	0	0.000781405	0	0
OR13C8	138802	broad.mit.edu	37	9	107331799	107331799	+	Silent	SNP	G	A	A	rs140558238		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:107331799G>A	uc011lvo.2	+	0	351	c.351G>A	c.(349-351)acG>acA	p.T117T		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTAGGCACGATGGCACTGG	0.522000														22			15		0	0	0.000219431	0	0
LSM14A	26065	broad.mit.edu	37	19	34712640	34712640	+	Silent	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:34712640T>C	uc002nvb.4	+	8	1561	c.1365T>C	c.(1363-1365)taT>taC	p.Y455Y	LSM14A_uc002nva.4_Silent_p.Y455Y|LSM14A_uc010xru.2_Silent_p.Y414Y|LSM14A_uc002nvc.4_Silent_p.Y261Y	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	455					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATTTTGAATATAGGGTAAGTG	0.453000														40			9		0	0	0.000442599	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490538	173490538	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:173490538C>T	uc001giz.2	-	22	3064	c.2641_splice	c.e22-1	p.E881_splice	SLC9C2_uc009wwe.2_Splice_Site_p.E439_splice	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	881					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTGGCTCTTTCCTGAGTGGGA	0.318000														40			9		0	0	0.000442599	0	0
ASXL3	80816	broad.mit.edu	37	18	31323374	31323374	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:31323374C>T	uc010dmg.1	+	11	3617	c.3562C>T	c.(3562-3564)Cca>Tca	p.P1188S	ASXL3_uc002kxq.2_Missense_Mutation_p.P895S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1188					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						GTCTCTTAACCCAAGTAAACT	0.428000														26			8		0	0	0.000274275	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221650	142221650	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:142221650A>T	uc003ywd.1	-	7	2596	c.2288T>A	c.(2287-2289)tTc>tAc	p.F763Y	SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			CTCGCTGAGGAAAAGAAGATA	0.493000														118			36		0	0	0.000509022	0	0
ELMO2	63916	broad.mit.edu	37	20	45017738	45017738	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:45017738T>C	uc010zxr.1	-	6	575	c.365A>G	c.(364-366)aAc>aGc	p.N122S	ELMO2_uc002xrt.1_Missense_Mutation_p.N122S|ELMO2_uc002xru.1_Missense_Mutation_p.N122S|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrw.3_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.N122S	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	122					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCCATCCATGTTGATGAACTC	0.527000														35			13		0	0	0.00010058	0	0
VSTM4	196740	broad.mit.edu	37	10	50315705	50315705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:50315705C>T	uc001jhf.2	-	1	420	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VSTM4_uc001jhh.2_Missense_Mutation_p.E131K	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	131	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGCTGATTTCCTGGACTCTG	0.617000														52			13		0	0	0.000151284	0	0
ARID5A	10865	broad.mit.edu	37	2	97217379	97217379	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:97217379T>A	uc002swe.3	+	6	1214	c.1114T>A	c.(1114-1116)Ttg>Atg	p.L372M	ARID5A_uc010yuq.2_Missense_Mutation_p.L320M|ARID5A_uc002swf.3_Missense_Mutation_p.L208M|ARID5A_uc002swg.3_Missense_Mutation_p.L320M	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.L372L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGGGGTGCTATTGGGGCCTCC	0.592000														9			5		0	0	3.59834e-05	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432772	72432772	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:72432772C>T	uc010iic.3	+	23	3268	c.3151C>T	c.(3151-3153)Cct>Tct	p.P1051S	SLC4A4_uc003hfy.3_3'UTR|SLC4A4_uc010iib.3_3'UTR|SLC4A4_uc003hfz.3_3'UTR|SLC4A4_uc003hgc.4_3'UTR|SLC4A4_uc010iid.3_3'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATAAAATTCCTTTCCTTCA	0.378000														65			17		0	0	0.000229342	0	0
FLG	2312	broad.mit.edu	37	1	152278666	152278666	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152278666C>T	uc001ezu.1	-	2	8732	c.8696G>A	c.(8695-8697)gGa>gAa	p.G2899E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2899	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAATGTCCCTCACTGTC	0.567000									Ichthyosis					248			25		0	0	0.000228196	0	0
PBLD	64081	broad.mit.edu	37	10	70048753	70048753	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:70048753G>A	uc001jns.1	-	6	650	c.447C>T	c.(445-447)gtC>gtT	p.V149V	PBLD_uc001jnr.1_Silent_p.V116V|PBLD_uc001jnt.1_Silent_p.V149V|PBLD_uc001jnu.1_Silent_p.V149V|PBLD_uc001jnv.1_Silent_p.V116V	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	149					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGATGTCCTGGACCAGTGTGT	0.512000														54			30		0	0	0.000409698	0	0
F7	2155	broad.mit.edu	37	13	113773099	113773099	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:113773099C>T	uc001vsv.3	+	8	1229	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	F7_uc001vsw.3_Missense_Mutation_p.S371L|F7_uc010tjt.2_Missense_Mutation_p.S324L	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	393	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCCGGCTACTCGGATGGCAGC	0.632000														20			8		0	0	0.000157383	0	0
APOH	350	broad.mit.edu	37	17	64225468	64225468	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:64225468C>T	uc002jfn.4	-	0	89	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	10					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGAGAAAACTCGAGAACAAGA	0.398000														15			4		0	0	0.000602214	0	0
DENND2A	27147	broad.mit.edu	37	7	140221655	140221655	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:140221655C>T	uc010lnk.3	-	18	3431	c.2911_splice	c.e18+1	p.G971_splice	DENND2A_uc011kre.2_Splice_Site|DENND2A_uc010lnj.3_Splice_Site_p.G971_splice|DENND2A_uc003vvw.3_Splice_Site_p.G971_splice	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	971										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGCCCCTCACCTTTGGCATCC	0.597000														58			20		0	0	0.000375601	0	0
DEFB127	140850	broad.mit.edu	37	20	139486	139486	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:139486G>A	uc002wcy.1	+	1	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	Homo sapiens defensin, beta 127 (DEFB127), mRNA.	41					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		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;0.122)			CAGAGTAAATGAAGTGCCTGA	0.398000														26			5		0	0	3.59834e-05	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598336	58598336	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:58598336C>T	uc010yht.1	-	4	880	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ZSCAN18_uc002qrj.3_Missense_Mutation_p.E228K|ZSCAN18_uc010yhs.1_Missense_Mutation_p.E93K|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E228K|ZSCAN18_uc002qri.2_Missense_Mutation_p.E228K|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	228					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGCCCCACTCCCCCAGGTGC	0.642000														33			11		0	0	0.000673444	0	0
PTPRR	5801	broad.mit.edu	37	12	71286483	71286483	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:71286483G>A	uc001swi.2	-	1	747	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	111					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGCTGCTGGGATTGGGAGAT	0.418000														84			30		0	0	0.000491102	0	0
ZP1	22917	broad.mit.edu	37	11	60637231	60637231	+	Silent	SNP	C	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:60637231C>A	uc001nqd.3	+	2	560	c.540C>A	c.(538-540)ccC>ccA	p.P180P	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	180					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGCCTTTCCCAGCCCACTGG	0.632000														27			9		2.80697e-09	3.68769e-08	0.000978159	1	0
PNPLA6	10908	broad.mit.edu	37	19	7621391	7621391	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:7621391C>T	uc010xjq.2	+	26	3416	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	PNPLA6_uc002mgq.2_Missense_Mutation_p.S1011F|PNPLA6_uc010xjp.2_Missense_Mutation_p.S984F|PNPLA6_uc002mgr.2_Missense_Mutation_p.S1011F|PNPLA6_uc002mgs.3_Missense_Mutation_p.S1049F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1050	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.L1058L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAGTCACCTCCATGTTCACT	0.567000														87			52		0	0	0.000781405	0	0
TRHR	7201	broad.mit.edu	37	8	110100013	110100013	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:110100013G>A	uc003ymz.4	+	0	361	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	91						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TACGGTTCCTGGGTCTATGGC	0.493000														84			27		0	0	0.000339439	0	0
SLC1A6	6511	broad.mit.edu	37	19	15075164	15075164	+	Silent	SNP	A	G	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:15075164A>G	uc002naa.1	-	3	565	c.558T>C	c.(556-558)ttT>ttC	p.F186F	SLC1A6_uc010dzu.1_Silent_p.F186F|SLC1A6_uc010xod.1_Silent_p.F122F|SLC1A6_uc002nab.3_Silent_p.F186F|SLC1A6_uc002nac.3_Silent_p.F186F|SLC1A6_uc002nad.1_Silent_p.F186F	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	186					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGTTTGGTGGAAACATATTTC	0.463000														189			69		0	0	0.000781405	0	0
RSRC1	51319	broad.mit.edu	37	3	157841716	157841716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:157841716C>T	uc003fbt.3	+	2	367	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RSRC1_uc011bou.1_Missense_Mutation_p.R86C|RSRC1_uc003fbu.1_Missense_Mutation_p.R86C|RSRC1_uc003fbv.3_Missense_Mutation_p.R86C	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.	86	Arg/Ser-rich.				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)			AAGTCGAAGTCGTTCAAGGGG	0.383000														84			25		0	0	0.000227799	0	0
ZFP64	55734	broad.mit.edu	37	20	50701658	50701658	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:50701658G>A	uc002xwk.3	-	8	1725	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	ZFP64_uc002xwj.3_Missense_Mutation_p.S240L	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGGATGTGCGATTTGAGATT	0.597000														51			22		0	0	0.000375601	0	0
BRD8	10902	broad.mit.edu	37	5	137501759	137501760	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:137501759_137501760CC>AA	uc003lcf.1	-	10	1090_1091	c.1035_1036GG>TT	c.(1033-1038)gtgggg>gtTTgg	p.G346W	BRD8_uc011cyl.2_Missense_Mutation_p.G125W|BRD8_uc021yea.1_Missense_Mutation_p.G236W|BRD8_uc003lcg.3_Missense_Mutation_p.G419W|BRD8_uc003lci.3_Missense_Mutation_p.G349W|BRD8_uc011cym.2_Missense_Mutation_p.G330W|BRD8_uc011cyn.1_Missense_Mutation_p.G305W	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	346					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGGATCCCCCACAGCCTCCA	0.460000														110			7		0	0	6.4e-05	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936987	119936987	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:119936987C>T	uc003yon.4	-	4	1155	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	278	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACGCTGTTTTCACAGAGGTCA	0.448000														50			14		0	0	0.000308642	0	0
CCDC141	285025	broad.mit.edu	37	2	179702043	179702043	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179702043G>A	uc002une.2	-	22	4021	c.3903C>T	c.(3901-3903)acC>acT	p.T1301T	CCDC141_uc002unf.1_Silent_p.T780T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	726							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCTCTGGAGGTTAGTGGGG	0.468000														66			18		0	0	0.000229342	0	0
SCN3A	6328	broad.mit.edu	37	2	165946963	165946963	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:165946963C>T	uc002ucx.3	-	27	6192	c.5700G>A	c.(5698-5700)gaG>gaA	p.E1900E	SCN3A_uc010zcy.2_Silent_p.E383E|SCN3A_uc002ucy.3_Silent_p.E1851E|SCN3A_uc002ucz.3_Silent_p.E1851E	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1900	IQ.					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)	CAGACACCTCCTCTTGTTTAC	0.373000														55			20		0	0	0.000878237	0	0
DNAH10	196385	broad.mit.edu	37	12	124315125	124315125	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:124315125T>C	uc001uft.4	+	24	4095	c.4070T>C	c.(4069-4071)gTc>gCc	p.V1357A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1357	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAACGTCTGTCTTTTTTGAA	0.373000														70			33		0	0	0.00111076	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1842672	1842672	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:1842672C>T	uc003wpr.3	+	12	1552	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	ARHGEF10_uc003wpq.1_Silent_p.I483I|ARHGEF10_uc003wps.3_Silent_p.I420I|ARHGEF10_uc003wpt.3_Silent_p.I334I|ARHGEF10_uc003wpv.3_Silent_p.I191I|ARHGEF10_uc010lre.3_Silent_p.I138I	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	483	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding	p.D458D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TATTTCAGATCGCGCTGGCCA	0.552000														36			10		0	0	0.000673444	0	0
VIL1	7429	broad.mit.edu	37	2	219289022	219289022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:219289022C>T	uc002vib.3	+	1	120	c.98C>T	c.(97-99)cCt>cTt	p.P33L	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.P33L|VIL1_uc002vic.1_Missense_Mutation_p.P33L	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	33	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCCTGTTCCTTCCAGCACC	0.612000														90			34		0	0	0.000437636	0	0
ANO4	121601	broad.mit.edu	37	12	101505378	101505378	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:101505378C>T	uc010svm.1	+	23	2912	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	ANO4_uc001thw.2_Silent_p.L745L|ANO4_uc001thx.2_Silent_p.L780L|ANO4_uc001thy.2_Silent_p.L300L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	780						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGGAATTCTCTCTGTTATCA	0.368000										HNSCC(74;0.22)				51			21		0	0	0.000295444	0	0
POTEC	388468	broad.mit.edu	37	18	14533112	14533112	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:14533112C>T	uc010dln.3	-	4	1457	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	335										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCAGATAGATCTTGAGAAGAT	0.373000														134			43		0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34038260	34038260	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:34038260C>T	uc001bxm.1	-	49	7785	c.7608G>A	c.(7606-7608)aaG>aaA	p.K2536K	CSMD2_uc001bxn.1_Silent_p.K2538K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2538	Sushi 15.					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)				CCATTCCATTCTTGGGGGCCT	0.488000														54			16		0	0	0.000229342	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312870	153312870	+	Missense_Mutation	SNP	C	T	T	rs148847664		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:153312870C>T	uc001fbo.3	-	6	876	c.811G>A	c.(811-813)Gac>Aac	p.D271N	PGLYRP4_uc001fbp.3_Missense_Mutation_p.D267N	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	271					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.D271N(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAACCAATGTCGCATGACTTG	0.502000														53			13		0	0	0.000422831	0	0
SPINK5	11005	broad.mit.edu	37	5	147478852	147478852	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:147478852G>A	uc003lox.2	+	11	1139	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SPINK5_uc010jgs.1_Missense_Mutation_p.E328K|SPINK5_uc010jgr.2_Missense_Mutation_p.E337K|SPINK5_uc003low.2_Missense_Mutation_p.E356K|SPINK5_uc003loy.2_Missense_Mutation_p.E356K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	356					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAAAAGAGAATCTGGAAA	0.373000														20			8		0	0	0.000442599	0	0
IVL	3713	broad.mit.edu	37	1	152882398	152882398	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152882398C>T	uc021ozl.1	+	0	125	c.125C>T	c.(124-126)cCc>cTc	p.P42L	IVL_uc001fau.3_Missense_Mutation_p.P42L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	42					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTGCCTCCCCCATGCCAG	0.552000														36			16		0	0	0.000422831	0	0
DSP	1832	broad.mit.edu	37	6	7584611	7584611	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:7584611C>T	uc003mxp.1	+	23	7395	c.7116C>T	c.(7114-7116)atC>atT	p.I2372I	DSP_uc003mxq.1_Silent_p.I1773I|DSP_uc021yle.1_Silent_p.I1929I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2372	Globular 2.				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)		AAGCACAGATCGCAACCGGGG	0.438000														51			29		0	0	0.00058488	0	0
ZFP106	64397	broad.mit.edu	37	15	42743105	42743105	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:42743105G>A	uc001zpw.3	-	1	1623	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Silent_p.C215C|ZFP106_uc001zpy.1_Silent_p.C455C	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	432						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CTGCAGTGGGGCACTGTCTCA	0.433000														140			62		0	0	0.000781405	0	0
DDX52	11056	broad.mit.edu	37	17	35986129	35986129	+	Silent	SNP	T	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:35986129T>A	uc002hoi.2	-	7	992	c.948A>T	c.(946-948)gtA>gtT	p.V316V	DDX52_uc002hoh.2_Silent_p.V208V	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	316	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATTCGTCTACTACAAGCCACT	0.448000														19			5		0	0	0.000602214	0	0
SP140L	93349	broad.mit.edu	37	2	231223698	231223698	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:231223698G>A	uc010fxm.1	+	3	381	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_Missense_Mutation_p.R10K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	97	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GATTCTTGTAGAAACCTGGTC	0.363000														94			31		0	0	0.000814825	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754765	94754765	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:94754765G>A	uc001yct.3	-	2	1316	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	SERPINA10_uc001ycu.4_Missense_Mutation_p.R284C	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R284C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACATGACAACGAAAATTCTTG	0.507000														45			16		0	0	0.000308642	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000														128			44		0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57766946	57766946	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:57766946C>T	uc002yan.3	+	0	872	c.872C>T	c.(871-873)cCa>cTa	p.P291L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	291						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTGGGCTCCCAGCGGCCAGC	0.677000														56			14		0	0	0.000308642	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702304	27702305	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:27702304_27702305CC>TT	uc001itu.2	-	0	993_994	c.875_876GG>AA	c.(874-876)agg>aAA	p.R292K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	292					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGAGGGGATGCCTGCCGTGGTT	0.624000														44			12		0	0	6.4e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152809609	152809609	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:152809609C>T	uc021zhb.1	-	9	1192	c.969G>A	c.(967-969)atG>atA	p.M323I	SYNE1_uc003qot.4_Missense_Mutation_p.M330I|SYNE1_uc003qou.4_Missense_Mutation_p.M323I|SYNE1_uc010kjb.1_Missense_Mutation_p.M306I|SYNE1_uc003qpa.1_Missense_Mutation_p.M323I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	323					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAACTTTCATTTCCTTAA	0.303000										HNSCC(10;0.0054)				29			15		0	0	0.000566183	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323194	57323194	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:57323194C>T	uc010sqw.2	-	2	848	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	235						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATAATCCTCTCCGTAGCTGTC	0.577000														45			15		0	0	0.00074312	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87445545	87445545	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:87445545G>A	uc003ujb.3	+	10	1655	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	RUNDC3B_uc011khd.1_Missense_Mutation_p.G396E|RUNDC3B_uc011khe.2_Missense_Mutation_p.G398E|RUNDC3B_uc003ujc.3_Missense_Mutation_p.G349E|RUNDC3B_uc003ujd.3_Missense_Mutation_p.G271E	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	415										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAAGGAGATGGAAAACAAGAC	0.358000														27			13		0	0	0.00010058	0	0
ALPK2	115701	broad.mit.edu	37	18	56203356	56203356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr18:56203356C>T	uc002lhj.4	-	4	4277	c.4063G>A	c.(4063-4065)Gat>Aat	p.D1355N	ALPK2_uc002lhk.1_Missense_Mutation_p.D686N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1355							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GACAGTGAATCTGTGACAGAT	0.473000														48			14		0	0	0.000308642	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493762	20493762	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:20493762G>A	uc002wrz.3	-	31	4394	c.4251C>T	c.(4249-4251)tcC>tcT	p.S1417S	RALGAPA2_uc002wry.3_Silent_p.S1032S|RALGAPA2_uc010zsg.2_Silent_p.S865S|RALGAPA2_uc002wsa.1_Silent_p.S189S	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1417					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACACCTCAAAGGACAGCTCGG	0.552000														22			4		0	0	3.59834e-05	0	0
ARL11	115761	broad.mit.edu	37	13	50204873	50204873	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:50204873C>T	uc001vdf.2	+	1	625	c.290C>T	c.(289-291)cCc>cTc	p.P97L	ARL11_uc021rjo.1_Missense_Mutation_p.P97L	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	97					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCCCGCTTACCCGAGTCGGCG	0.607000														56			15		0	0	0.000566183	0	0
TNN	63923	broad.mit.edu	37	1	175105031	175105031	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:175105031G>A	uc001gkl.1	+	15	3494	c.3381G>A	c.(3379-3381)agG>agA	p.R1127R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1127	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCGATGGAGGAGCTATGTGG	0.532000														95			32		0	0	0.000814825	0	0
RYR1	6261	broad.mit.edu	37	19	38958278	38958278	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:38958278C>T	uc002oit.3	+	24	3337	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D	RYR1_uc002oiu.3_Silent_p.D1069D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1069	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCGTTGTGACCGGGTGCGCA	0.557000														73			29		0	0	0.000339439	0	0
PLCE1	51196	broad.mit.edu	37	10	96014752	96014752	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:96014752C>T	uc001kjk.3	+	10	4134	c.3500C>T	c.(3499-3501)cCc>cTc	p.P1167L	PLCE1_uc010qnx.2_Missense_Mutation_p.P1167L|PLCE1_uc001kjm.3_Missense_Mutation_p.P859L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1167					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGTCATCTCCCATCAGGCCA	0.552000														71			17		0	0	0.00074312	0	0
OR8B12	219858	broad.mit.edu	37	11	124412729	124412729	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:124412729G>A	uc010sam.2	-	0	822	c.822C>T	c.(820-822)tcC>tcT	p.S274S		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TATAGAACAGGGAGGACACTT	0.438000														30			19		0	0	0.000132079	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71191934	71191934	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:71191934C>T	uc002shj.3	+	12	1404	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	ATP6V1B1_uc010fdx.3_Silent_p.T397T	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	439					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						AGGCGCTCACCTCTGAGGACC	0.592000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			11		0	0	0.000978159	0	0
DDX11	1663	broad.mit.edu	37	12	31255459	31255459	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:31255459C>T	uc001rjt.1	+	22	2621	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	DDX11_uc001rjr.1_Silent_p.G790G|DDX11_uc001rjs.1_Silent_p.G740G|DDX11_uc001rju.1_Silent_p.G462G|DDX11_uc001rjv.1_Silent_p.G790G|DDX11_uc001rjw.1_Silent_p.G764G|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_Silent_p.G12G	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	790					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTAGGCCGGTAAGTAG	0.612000										Multiple Myeloma(12;0.14)				27			18		0	0	0.00074312	0	0
MYO1A	4640	broad.mit.edu	37	12	57430866	57430866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:57430866G>A	uc001smw.4	-	19	2305	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	MYO1A_uc010sqz.2_Missense_Mutation_p.L527F|MYO1A_uc009zpd.3_Missense_Mutation_p.L689F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	689					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTCTTCGAGGTAGAAAAGC	0.572000														72			26		0	0	0.000227799	0	0
ANKRD22	118932	broad.mit.edu	37	10	90583082	90583082	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:90583082G>A	uc001kfj.4	-	4	821	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	151										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AGAGCAGAGGGATAAGAGACT	0.488000														112			46		0	0	0.000781405	0	0
SLC12A5	57468	broad.mit.edu	37	20	44674583	44674583	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:44674583G>A	uc010zxl.1	+	12	1781	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.E546K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	569					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.C568*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCATCTGCGAGATTGGCAT	0.592000														114			34		0	0	0.000228196	0	0
OPRK1	4986	broad.mit.edu	37	8	54142243	54142243	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:54142243G>A	uc003xrh.1	-	2	1132	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	OPRK1_uc022aup.1_Missense_Mutation_p.L133F|OPRK1_uc003xri.1_Missense_Mutation_p.L253F|OPRK1_uc010lyc.1_Missense_Mutation_p.L164F	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	253					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.R252H(3)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGCTCTTGAGACGCAGGATC	0.557000														42			18		0	0	0.000295444	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33060754	33060754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:33060754G>A	uc001bvn.3	+	3	1408	c.923G>A	c.(922-924)aGg>aAg	p.R308K	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Missense_Mutation_p.R308K	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ACAGGAGAAAGGCCCTATCCA	0.453000														61			23		0	0	0.00106085	0	0
C1orf173	127254	broad.mit.edu	37	1	75037652	75037652	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:75037652G>A	uc001dgg.3	-	13	3961	c.3742C>T	c.(3742-3744)Cac>Tac	p.H1248Y		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1248	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGGAGTCGTGATCTTTGGCT	0.602000														36			12		0	0	0.000308642	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45523370	45523370	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr21:45523370C>T	uc002zea.3	+	22	3907	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I	TRAPPC10_uc010gpo.3_Silent_p.I957I|TRAPPC10_uc011afa.2_Silent_p.I624I	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1246					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						TCCTGGTCATCCCCAGCCAAG	0.607000														15			5		0	0	8.12818e-05	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034648	9034648	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:9034648C>T	uc003brf.1	-	19	3176	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	SRGAP3_uc003brg.1_Missense_Mutation_p.D810N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	834					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACTGGAGGTCGTTTTTGGAA	0.582000			T	RAF1	pilocytic astrocytoma									32			10		0	0	0.000673444	0	0
CCDC144C	348254	broad.mit.edu	37	17	20294989	20294989	+	RNA	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:20294989C>T	uc010cqy.1	+	12		c.3712C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TATGTTAGAACGTGGTGAAGC	0.358000														64			13		0	0	0.000151284	0	0
MPO	4353	broad.mit.edu	37	17	56355339	56355339	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:56355339C>T	uc002ivu.1	-	6	1230	c.1053G>A	c.(1051-1053)agG>agA	p.R351R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	351					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGCGCAGGTTCCTGGCCAGGG	0.637000														38			13		0	0	0.000151284	0	0
MYO9A	4649	broad.mit.edu	37	15	72190967	72190967	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:72190967G>A	uc002atl.4	-	24	4350	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MYO9A_uc010biq.3_Missense_Mutation_p.R913C|MYO9A_uc002atn.1_Missense_Mutation_p.R1274C|MYO9A_uc002atk.3_Missense_Mutation_p.R17C|MYO9A_uc002atm.1_Missense_Mutation_p.R17C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1293	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	p.V1292V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAGAGAACGAACTTTCAGC	0.463000														52			21		0	0	0.000295444	0	0
RNF112	7732	broad.mit.edu	37	17	19315892	19315892	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:19315892C>T	uc010vyw.2	+	2	408	c.177C>T	c.(175-177)atC>atT	p.I59I	RNF112_uc010vyu.2_Silent_p.I59I|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Silent_p.I11I	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	59							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						CCTGCTCCATCTGCCTGGAGA	0.657000														13			7		0	0	0.000157383	0	0
GALNT13	114805	broad.mit.edu	37	2	155157940	155157940	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:155157940T>A	uc002tyt.4	+	6	1098	c.994T>A	c.(994-996)Tcc>Acc	p.S332T	GALNT13_uc002tyr.4_Missense_Mutation_p.S332T|GALNT13_uc010foc.1_Missense_Mutation_p.S151T|GALNT13_uc010fod.3_Missense_Mutation_p.S85T	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	332	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGTGGAGGCTCCTTGGAGAT	0.408000														173			41		0	0	0.000781405	0	0
CRYGC	1420	broad.mit.edu	37	2	208992975	208992975	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:208992975G>A	uc002vco.4	-	2	515	c.477C>T	c.(475-477)gcC>gcT	p.A159A	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TAGCATCCATGGCCCCCCAGT	0.527000														70			18		0	0	0.000958276	0	0
OR4K1	79544	broad.mit.edu	37	14	20404440	20404440	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:20404440G>A	uc001vwj.2	+	0	674	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGCCTGATATCATTGA	0.438000														41			15		0	0	0.000566183	0	0
NLRP5	126206	broad.mit.edu	37	19	56539572	56539572	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:56539572C>T	uc002qmj.3	+	6	1973	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	NLRP5_uc002qmi.3_Missense_Mutation_p.P639L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCGTTCCCCTGGGGGTG	0.587000														49			19		0	0	0.000132079	0	0
ST7	7982	broad.mit.edu	37	7	116862934	116862934	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:116862934C>T	uc003vin.3	+	15	1872	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	ST7_uc011knl.2_Missense_Mutation_p.S530L|ST7_uc003vio.3_Intron|ST7_uc003viq.3_Intron|ST7_uc011knm.2_Intron|ST7_uc003vir.3_Intron	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	553						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTCTGCTCGGCAGAGTTC	0.428000														52			38		0	0	0.000509022	0	0
ARSD	414	broad.mit.edu	37	X	2828785	2828785	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:2828785G>A	uc004cqy.3	-	6	1150	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	350						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				TGAAATACGTGAATGTTGAGT	0.423000														40			37		0	0	0.00111076	0	0
COL7A1	1294	broad.mit.edu	37	3	48613092	48613092	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:48613092C>T	uc003ctz.2	-	71	5947	c.5946G>A	c.(5944-5946)ggG>ggA	p.G1982G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1982	Triple-helical region.		G -> W (in HS-DEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCCTGAGTCCCCCTTGGGGC	0.647000														37			5		0	0	3.59834e-05	0	0
FLT1	2321	broad.mit.edu	37	13	28980009	28980009	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:28980009C>T	uc001usb.3	-	10	1744	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	FLT1_uc010aar.1_Missense_Mutation_p.E487K|FLT1_uc001usc.3_Missense_Mutation_p.E487K|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_5'UTR|FLT1_uc010tdp.1_Missense_Mutation_p.E487K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	487	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.E487K(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AAGGACTCTTCATTATTGGAA	0.388000														71			19		0	0	0.000958276	0	0
CSMD2	114784	broad.mit.edu	37	1	34117982	34117982	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:34117982C>T	uc001bxm.1	-	27	4704	c.4527G>A	c.(4525-4527)aaG>aaA	p.K1509K	CSMD2_uc001bxn.1_Silent_p.K1469K|CSMD2_uc001bxo.1_Silent_p.K382K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1469	CUB 9.					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)				AGTCACACTCCTTGCCTGGCG	0.557000														62			24		0	0	0.00047179	0	0
POU1F1	5449	broad.mit.edu	37	3	87322529	87322529	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:87322529C>T	uc010hoj.1	-	1	385	c.260G>A	c.(259-261)gGa>gAa	p.G87E	POU1F1_uc003dqq.1_Missense_Mutation_p.G61E	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	61					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TGGCTGGTTTCCATAATGACA	0.408000														40			10		0	0	0.00010058	0	0
SHPK	23729	broad.mit.edu	37	17	3539424	3539424	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:3539424G>A	uc002fvz.1	-	0	193	c.90C>T	c.(88-90)tcC>tcT	p.S30S	CTNS_uc002fwa.3_5'Flank|CTNS_uc002fwb.3_5'Flank|CTNS_uc010ckj.3_5'Flank|CTNS_uc010vrv.2_5'Flank|CTNS_uc010vrw.2_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	30					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CTGCGAACCCGGATGGGTCGT	0.716000														17			5		0	0	0.000602214	0	0
KRT31	3881	broad.mit.edu	37	17	39551875	39551875	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:39551875C>T	uc002hwn.3	-	4	642	c.589_splice	c.e4-1	p.E197_splice	KRT31_uc010cxn.3_Splice_Site_p.E197_splice	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	197	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTATTGACCTCCTATGGATGC	0.493000														25			9		0	0	0.000673444	0	0
P2RY2	5029	broad.mit.edu	37	11	72945289	72945289	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:72945289G>A	uc021qna.1	+	0	85	c.85G>A	c.(85-87)Gag>Aag	p.E29K	P2RY2_uc001otk.3_Missense_Mutation_p.E29K|P2RY2_uc001otj.3_Missense_Mutation_p.E29K|P2RY2_uc001otl.3_Missense_Mutation_p.E29K	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	29					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGCTTCAACGAGGACTTCAA	0.622000														104			22		0	0	0.000175454	0	0
OR8G1	26494	broad.mit.edu	37	11	124120608	124120608	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:124120608C>T	uc001pzx.3	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		TGTACTATTTCCTCAGCAGTC	0.483000														51			15		0	0	0.000566183	0	0
SPAG17	200162	broad.mit.edu	37	1	118550793	118550793	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:118550793C>T	uc001ehk.2	-	30	4529	c.4461G>A	c.(4459-4461)caG>caA	p.Q1487Q	SPAG17_uc021osr.1_5'UTR	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1487						cilium|flagellar axoneme|microtubule		p.R1486K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TACACTTCACCTGCCTGGTGA	0.488000														36			7		0	0	0.000157383	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325337	47325337	+	RNA	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:47325337G>A	uc001cqo.1	-	8		c.1231C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGCAGGTAAGGAGCGTCCATC	0.403000														61			13		0	0	0.000566183	0	0
MATR3	9782	broad.mit.edu	37	5	138658193	138658193	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:138658193C>T	uc003ldw.3	+	11	2179	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	MATR3_uc003ldt.3_Silent_p.S254S|MATR3_uc003ldu.3_Silent_p.S592S|MATR3_uc010jfb.3_Silent_p.S592S|MATR3_uc003ldx.3_Silent_p.S592S|MATR3_uc003ldy.3_Silent_p.S269S|MATR3_uc003ldz.3_Silent_p.S592S|MATR3_uc011czb.2_Silent_p.S304S|MATR3_uc003leb.3_Silent_p.S254S|MATR3_uc003lec.3_Silent_p.S269S	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	592						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGATAAATCCCGGTAATTTC	0.299000														23			8		0	0	0.000274275	0	0
ZYG11B	79699	broad.mit.edu	37	1	53267769	53267769	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:53267769C>T	uc001cuj.3	+	9	1848	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Intron|ZYG11B_uc009vzh.3_5'UTR	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	551							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TACAGTCTTTCCCAACTGAGT	0.294000														91			17		0	0	0.000229342	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925428	114925428	+	Silent	SNP	C	T	T	rs61724286		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:114925428C>T	uc021pyi.1	+	14	2064	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Silent_p.S502S|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Silent_p.S235S|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Silent_p.S484S|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Silent_p.S507S|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Silent_p.S496S|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Silent_p.S479S|TCF7L2_uc010qrl.2_Silent_p.S479S|TCF7L2_uc010qrr.2_Silent_p.S434S|TCF7L2_uc010qrs.2_Silent_p.S390S|TCF7L2_uc010qrt.2_Silent_p.S390S|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	519					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGCTAGGCTCCCCTCCCCGAG	0.632000			T	VTI1A	colorectal									180			45		0	0	0.000781405	0	0
GAS2	2620	broad.mit.edu	37	11	22747973	22747973	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:22747973G>A	uc009yie.3	+	3	709	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	GAS2_uc001mqm.3_Missense_Mutation_p.G135S|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.G135S	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	135	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGAATCGGAAGGTTTGGGTAT	0.378000														78			12		0	0	0.000308642	0	0
CGNL1	84952	broad.mit.edu	37	15	57731149	57731149	+	Missense_Mutation	SNP	G	A	A	rs141629614		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:57731149G>A	uc010bfw.3	+	2	1145	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CGNL1_uc002aeg.3_Missense_Mutation_p.E318K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	318	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGATGATCAGGAATGTGCCAT	0.517000														34			8		0	0	0.000978159	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634942	70634942	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:70634942C>T	uc001xly.3	-	1	952	c.198G>A	c.(196-198)gaG>gaA	p.E66E	SLC8A3_uc001xlw.3_Silent_p.E66E|SLC8A3_uc001xlx.3_Silent_p.E66E|SLC8A3_uc001xlz.3_Silent_p.E66E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	66					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.P65P(1)		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)		GGGAAGGGTTCTCCGGGTACC	0.547000														32			11		0	0	0.000978159	0	0
TEX2	55852	broad.mit.edu	37	17	62290901	62290901	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:62290901G>A	uc002jed.3	-	1	828	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TEX2_uc002jec.3_Missense_Mutation_p.S226F|TEX2_uc002jee.3_Missense_Mutation_p.S226F	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	226					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCTGCCGGGAAGTGTCCGT	0.527000														68			25		0	0	0.000878237	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2396587	2396587	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:2396587G>A	uc010xgx.2	+	1	193	c.193G>A	c.(193-195)Gga>Aga	p.G65R	TMPRSS9_uc002lvv.1_Missense_Mutation_p.G65R	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	65					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.R64W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCTGCGGGGAATCCGGTG	0.667000														9			6		0	0	0.000157383	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413031	105413031	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:105413031C>T	uc010axc.1	-	6	8877	c.8757G>A	c.(8755-8757)aaG>aaA	p.K2919K	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K2819K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2919						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTGGGGCCCTTGACGTCTA	0.652000														164			58		0	0	0.000781405	0	0
AGTR1	185	broad.mit.edu	37	3	148459531	148459531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:148459531G>A	uc003ewg.3	+	3	1155	c.709G>A	c.(709-711)Gat>Aat	p.D237N	AGTR1_uc003ewh.3_Missense_Mutation_p.D237N|AGTR1_uc003ewi.3_Missense_Mutation_p.D237N|AGTR1_uc003ewj.3_Missense_Mutation_p.D237N|AGTR1_uc003ewk.3_Missense_Mutation_p.D237N|AGTR1_uc021xfj.1_Missense_Mutation_p.D237N	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	237					Rho protein signal transduction|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 NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|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		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)	AAGAAATGATGATATTTTTAA	0.323000														55			15		0	0	0.000958276	0	0
BTF3	689	broad.mit.edu	37	5	72794965	72794965	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:72794965G>C	uc003kcr.1	+	1	382	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	BTF3_uc010izd.1_Missense_Mutation_p.E47Q|BTF3_uc003kcq.1_Missense_Mutation_p.E3Q	NM_001037637	NP_001198	P20290	BTF3_HUMAN	Homo sapiens basic transcription factor 3 (BTF3), transcript variant 1, mRNA.	47					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CTAGATGAAAGAAACAATCAT	0.403000														33			13		0	0	0.000308642	0	0
JAG1	182	broad.mit.edu	37	20	10629243	10629243	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:10629243C>T	uc002wnw.2	-	11	2039	c.1523G>A	c.(1522-1524)aGa>aAa	p.R508K	JAG1_uc010gcd.1_Missense_Mutation_p.R66K	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	508	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACACTGGAATCTGTTGATTTC	0.512000									Alagille Syndrome					31			12		0	0	0.000151284	0	0
PAH	5053	broad.mit.edu	37	12	103310870	103310870	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:103310870C>T	uc001tjq.1	-	0	512	c.39G>A	c.(37-39)agG>agA	p.R13R	PAH_uc010swc.1_Silent_p.R13R	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	13					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGAGAGTTTCCTGCCCAAGC	0.572000														51			8		0	0	0.000673444	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323421	44323421	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr21:44323421G>T	uc002zcm.3	+	2	365	c.299G>T	c.(298-300)aGt>aTt	p.S100I	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GCTAGTCCCAGTCCCAGTGGC	0.473000														95			33		1.66425e-11	2.19313e-10	0.000953801	1	0
TLL1	7092	broad.mit.edu	37	4	166996085	166996085	+	Silent	SNP	G	A	A	rs115884871	byFrequency	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:166996085G>A	uc003irh.2	+	16	2891	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	TLL1_uc011cjn.2_Silent_p.T771T|TLL1_uc011cjo.2_Silent_p.T572T	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAACACGATGGGGAGCT	0.383000														75			21		0	0	0.000229342	0	0
MYH4	4622	broad.mit.edu	37	17	10351754	10351754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:10351754G>A	uc002gmn.3	-	32	4726	c.4615C>T	c.(4615-4617)Cat>Tat	p.H1539Y	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1539					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						CTCTTCTCATGATCAAGTTGT	0.363000														29			8		0	0	0.000157383	0	0
FAM129A	116496	broad.mit.edu	37	1	184801002	184801002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:184801002C>T	uc001gra.3	-	5	890	c.696G>A	c.(694-696)atG>atA	p.M232I	FAM129A_uc001grb.1_Missense_Mutation_p.M30I|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.M30I	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	232					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						CCCCAGTGATCATTTCCCAGG	0.408000														76			20		0	0	0.000175454	0	0
MUT	4594	broad.mit.edu	37	6	49399545	49399545	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr6:49399545C>A	uc003ozg.4	-	12	2414	c.2149G>T	c.(2149-2151)Ggt>Tgt	p.G717C		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	717	B12-binding.		G -> V (in MMAM; mut-; interfers with the binding of the cofactor to the apoenzyme).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGAAACACCAACTTCAAAC	0.373000														162			10		0.000673444	0.00858491	0.000673444	1	0
LOC646813	646813	broad.mit.edu	37	11	50379313	50379313	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr11:50379313G>A	uc001nhe.2	+	6		c.796_splice	c.e6-1		LOC646813_uc001nhf.1_Splice_Site|LOC646813_uc001nhg.1_Splice_Site|LOC646813_uc001nhh.1_Splice_Site|LOC646813_uc010rib.1_Splice_Site					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TTTTTTACAGGAAAATTGCAA	0.393000														22			7		0	0	0.000157383	0	0
TRPM4	54795	broad.mit.edu	37	19	49671814	49671814	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:49671814C>T	uc002pmw.3	+	5	725	c.617C>T	c.(616-618)tCg>tTg	p.S206L	TRPM4_uc010emu.3_Missense_Mutation_p.S206L|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.S32L|TRPM4_uc010emv.3_Missense_Mutation_p.S91L|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	206					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCTAGGGCTCGTTCCCTGCG	0.647000														34			16		0	0	0.000132079	0	0
IKZF2	22807	broad.mit.edu	37	2	213914548	213914548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:213914548G>A	uc002vem.3	-	4	632	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.L102F|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.L129F|IKZF2_uc002vel.3_Missense_Mutation_p.L76F|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Missense_Mutation_p.L129F|IKZF2_uc002ven.3_Missense_Mutation_p.L129F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTCTCAGAAGGTTGCCCTTC	0.488000														26			4		0	0	0.00024832	0	0
SMARCD1	6602	broad.mit.edu	37	12	50484051	50484051	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:50484051C>T	uc001rvx.4	+	7	1071	c.901C>T	c.(901-903)Cta>Tta	p.L301L	SMARCD1_uc001rvy.4_Silent_p.L301L|SMARCD1_uc009zlp.3_Silent_p.L260L	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	301	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AGACCCCCGCCTAGCTCGACT	0.498000														70			31		0	0	0.000814825	0	0
OR4D1	26689	broad.mit.edu	37	17	56232592	56232592	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:56232592C>T	uc010wno.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGAAATTCCTGTTCCTTC	0.478000														119			40		0	0	0.000319135	0	0
C9orf131	138724	broad.mit.edu	37	9	35044878	35044878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:35044878G>A	uc003zvw.3	+	1	2281	c.2252G>A	c.(2251-2253)gGa>gAa	p.G751E	C9orf131_uc003zvu.3_Missense_Mutation_p.G703E|C9orf131_uc003zvv.3_Missense_Mutation_p.G678E|C9orf131_uc003zvx.3_Missense_Mutation_p.G716E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	751										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)			CTACCCAAGGGAGTAACGTGC	0.602000														33			17		0	0	0.000422831	0	0
TNNT2	7139	broad.mit.edu	37	1	201334327	201334327	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:201334327C>T	uc001gwf.3	-	9	472	c.403G>A	c.(403-405)Gac>Aac	p.D135N	TNNT2_uc021phc.1_Missense_Mutation_p.D125N|TNNT2_uc001gwg.3_Missense_Mutation_p.D125N|TNNT2_uc001gwh.3_Missense_Mutation_p.D116N|TNNT2_uc001gwi.3_Intron|TNNT2_uc009wzr.3_Missense_Mutation_p.D66N|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.D100N|TNNT2_uc001gwk.1_Missense_Mutation_p.D66N|TNNT2_uc009wzt.1_Missense_Mutation_p.D125N	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	135					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ACGATCCTGTCTTTGAGAGAA	0.552000														88			24		0	0	0.00047179	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150363	70150363	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr12:70150363C>T	uc001svp.3	+	2	925	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	RAB3IP_uc021rao.1_Missense_Mutation_p.R144C|RAB3IP_uc001svm.3_Missense_Mutation_p.R144C|RAB3IP_uc001svn.3_Missense_Mutation_p.R144C|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.R160C|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	160					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.R160S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGTCTGTCTCGTTTACGAAG	0.393000														84			18		0	0	0.000958276	0	0
FLG	2312	broad.mit.edu	37	1	152280839	152280839	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:152280839C>T	uc001ezu.1	-	2	6559	c.6523G>A	c.(6523-6525)Gga>Aga	p.G2175R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2175	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2175*(2)		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)			TCAGACCTTCCCTGGGATGTG	0.562000									Ichthyosis					411			34		0	0	0.000228196	0	0
SAGE1	55511	broad.mit.edu	37	X	134989136	134989136	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chrX:134989136C>T	uc004ezh.3	+	7	955	c.788C>T	c.(787-789)cCc>cTc	p.P263L	SAGE1_uc010nry.1_Missense_Mutation_p.P232L|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	263								p.P263T(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGGGCCAACCCCAACCTGAT	0.463000														18			23		0	0	0.000295444	0	0
CHD6	84181	broad.mit.edu	37	20	40034065	40034065	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr20:40034065G>A	uc002xka.1	-	36	7494	c.7316C>T	c.(7315-7317)cCc>cTc	p.P2439L	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2439					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCTGCGGGGGCCCGTATC	0.532000														30			13		0	0	0.000151284	0	0
SZT2	23334	broad.mit.edu	37	1	43896717	43896717	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:43896717C>T	uc001cjk.2	+	31	4785	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1624						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGACTTTGCCCCTGGAAGTGG	0.617000														40			5		0	0	0.000602214	0	0
SPEG	10290	broad.mit.edu	37	2	220337666	220337666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:220337666G>A	uc010fwg.3	+	15	3995	c.3995G>A	c.(3994-3996)tGg>tAg	p.W1332*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1332	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCGGACCAGTGGACGGCACTG	0.647000														13			17		0	0	0.00074312	0	0
MAST1	22983	broad.mit.edu	37	19	12976153	12976153	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:12976153C>T	uc002mvm.3	+	14	1790	c.1662C>T	c.(1660-1662)atC>atT	p.I554I		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	554	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGAGTACATCGCGCCCGAGG	0.662000														19			9		0	0	0.000442599	0	0
MTRF1	9617	broad.mit.edu	37	13	41834968	41834968	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr13:41834968G>A	uc010tff.2	-	2	334	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	MTRF1_uc001uxx.3_Missense_Mutation_p.H26Y|MTRF1_uc001uxy.3_Missense_Mutation_p.H26Y|MTRF1_uc001uxz.3_5'UTR|MTRF1_uc001uyc.1_Missense_Mutation_p.H26Y			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	26					regulation of translational termination	mitochondrion	translation release factor activity, codon specific	p.L39L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TGATGAGAATGGAGCTGGATG	0.378000														29			12		0	0	0.000219431	0	0
C1orf114	57821	broad.mit.edu	37	1	169388397	169388397	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:169388397C>T	uc001gga.1	-	4	1237	c.1069_splice	c.e4-1	p.E357_splice	C1orf114_uc001gfz.1_Splice_Site_p.E357_splice|C1orf114_uc009wvq.1_Splice_Site_p.E357_splice|C1orf114_uc001ggb.3_Splice_Site_p.E357_splice	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	357										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					CGTCGCTCTTCCTAGTAAAAG	0.308000														17			8		0	0	0.000157383	0	0
HEATR2	54919	broad.mit.edu	37	7	796443	796444	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:796443_796444GG>TT	uc010krz.1	+	5	1302_1303	c.1282_1283GG>TT	c.(1282-1284)ggg>TTg	p.G428L	HEATR2_uc003siz.2_Missense_Mutation_p.G296L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	428							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGAGCTCGTCGGGACGTTTGTC	0.609000														136			7		0	0	6.4e-05	0	0
BCAS3	54828	broad.mit.edu	37	17	58786684	58786684	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:58786684C>T	uc002iyv.4	+	4	428	c.319C>T	c.(319-321)Cct>Tct	p.P107S	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Missense_Mutation_p.P107S|BCAS3_uc002iyw.4_Missense_Mutation_p.P103S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	107						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGGAGCATCCCTGTAAGTAC	0.378000														20			15		0	0	0.000566183	0	0
FAM171B	165215	broad.mit.edu	37	2	187627263	187627263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:187627263C>T	uc002ups.3	+	7	2306	c.2194C>T	c.(2194-2196)Cag>Tag	p.Q732*	FAM171B_uc002upr.1_Nonsense_Mutation_p.Q699*|FAM171B_uc002upt.3_Nonsense_Mutation_p.Q201*	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	732						integral to membrane	DNA binding	p.H731N(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGCATGCATCAGCCCAAGAT	0.483000														78			32		0	0	0.000814825	0	0
OR2T1	26696	broad.mit.edu	37	1	248570031	248570031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:248570031G>A	uc010pzm.2	+	0	736	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E246K(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AGCCCTCTACGAGACAGTGAT	0.498000														48			16		0	0	0.00074312	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457323	110457323	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:110457323C>T	uc003yne.3	+	37	5329	c.5225C>T	c.(5224-5226)tCa>tTa	p.S1742L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1742	IPT/TIG 9.				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)			TGCACCTTTTCATACTTAGAA	0.448000										HNSCC(38;0.096)				89			30		0	0	0.000227799	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819698	70819698	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:70819698T>C	uc001dex.4	-	0	720	c.394A>G	c.(394-396)Atc>Gtc	p.I132V	ANKRD13C_uc009wbk.3_Missense_Mutation_p.I132V|ANKRD13C_uc001dey.4_Missense_Mutation_p.I132V|HHLA3_uc010oqp.2_5'Flank|HHLA3_uc001dfb.3_5'Flank|HHLA3_uc001dfa.3_5'Flank|HHLA3_uc001dfc.3_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	132					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGCGTGCGGATGAGAGAGGAG	0.617000														17			4		0	0	0.00024832	0	0
OR2M5	127059	broad.mit.edu	37	1	248309135	248309135	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:248309135G>A	uc010pze.2	+	0	686	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATTCACATGGGATCTGGAGAG	0.448000														147			48		0	0	0.000781405	0	0
SLC1A5	6510	broad.mit.edu	37	19	47285682	47285682	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr19:47285682G>A	uc002pfs.3	-	3	1402	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SLC1A5_uc010xyh.2_Missense_Mutation_p.S59F|SLC1A5_uc002pfq.3_Missense_Mutation_p.S85F|SLC1A5_uc002pfr.3_Missense_Mutation_p.S33F	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	261					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTCATTGAAGGAGTTGAAGAA	0.597000														48			17		0	0	0.000375601	0	0
TACC2	10579	broad.mit.edu	37	10	123971035	123971035	+	Silent	SNP	A	G	G			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr10:123971035A>G	uc001lfv.3	+	8	7455	c.7095A>G	c.(7093-7095)caA>caG	p.Q2365Q	TACC2_uc001lfw.3_Silent_p.Q511Q|TACC2_uc009xzx.3_Silent_p.Q2320Q|TACC2_uc010qtv.2_Silent_p.Q2369Q|TACC2_uc001lfx.3_Silent_p.Q69Q|TACC2_uc001lfy.3_Silent_p.Q69Q|TACC2_uc001lfz.3_Silent_p.Q443Q|TACC2_uc001lga.3_Silent_p.Q443Q|TACC2_uc009xzy.3_Silent_p.Q443Q|TACC2_uc001lgb.3_Silent_p.Q400Q|TACC2_uc010qtw.1_Silent_p.Q460Q	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2365	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding	p.Q2364fs*7(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCCCAACAATCATACAACT	0.463000														147			55		0	0	0.000781405	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000														49			18		0	0	0.000229342	0	0
TARBP1	6894	broad.mit.edu	37	1	234541779	234541779	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:234541779G>A	uc001hwd.3	-	23	3859	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1287					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCATACAGTCGAACACTAAAA	0.383000														72			27		0	0	0.000279167	0	0
ARNT	405	broad.mit.edu	37	1	150812123	150812123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:150812123G>A	uc001evr.2	-	5	481	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	ARNT_uc001evs.2_Missense_Mutation_p.H79Y|ARNT_uc009wmd.2_Missense_Mutation_p.H79Y|ARNT_uc009wmb.2_Missense_Mutation_p.H85Y|ARNT_uc009wmc.2_Missense_Mutation_p.H94Y|ARNT_uc009wme.2_Missense_Mutation_p.H94Y|ARNT_uc010pcl.2_Missense_Mutation_p.H78Y	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	94					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTTCACTGTGATTTTCCCTG	0.498000			T	ETV6	AML									12			5		0	0	0.000602214	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928267	21928267	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:21928267T>C	uc001bev.3	-	17	1835	c.1817A>G	c.(1816-1818)aAg>aGg	p.K606R	RAP1GAP_uc001bew.3_Missense_Mutation_p.K585R|RAP1GAP_uc001bey.3_Missense_Mutation_p.K547R|RAP1GAP_uc001bex.3_Missense_Mutation_p.K521R	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	521					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTCTGGGGTCTTCTGACCAGC	0.667000														23			8		0	0	0.000274275	0	0
PGS1	9489	broad.mit.edu	37	17	76396844	76396844	+	Missense_Mutation	SNP	C	T	T	rs79039614		TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr17:76396844C>T	uc002jvm.3	+	5	800	c.788C>T	c.(787-789)aCg>aTg	p.T263M	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_5'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'UTR	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	263					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GACTTCTTCACGGAGCTGGTG	0.607000														46			26		0	0	0.000184323	0	0
C3orf56	285311	broad.mit.edu	37	3	126916050	126916050	+	Silent	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:126916050C>T	uc003eji.1	+	1	762	c.522C>T	c.(520-522)tcC>tcT	p.S174S						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AGGGGCCATCCAGAGGAGCTC	0.637000														24			6		0	0	8.12818e-05	0	0
TMEM66	51669	broad.mit.edu	37	8	29927235	29927235	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr8:29927235G>A	uc003xhs.3	-	2	807	c.623C>T	c.(622-624)cCt>cTt	p.P208L	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.P36L	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	208						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGAAAATGGAGGATACTCAGA	0.507000														86			9		0	0	0.000673444	0	0
ZNF280D	54816	broad.mit.edu	37	15	56981258	56981258	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:56981258G>A	uc002adu.3	-	8	978	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ZNF280D_uc002adv.3_Missense_Mutation_p.P241L|ZNF280D_uc010bfq.3_Missense_Mutation_p.P254L|ZNF280D_uc002adw.1_Missense_Mutation_p.P282L|ZNF280D_uc010bfr.1_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P254P(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATTTTTCAAAGGATCCAAAAG	0.284000														73			19		0	0	0.000175454	0	0
PLCH1	23007	broad.mit.edu	37	3	155208579	155208579	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr3:155208579C>T	uc021xge.1	-	17	2627	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	PLCH1_uc021xgd.1_Missense_Mutation_p.D784N|PLCH1_uc021xgf.1_Missense_Mutation_p.D766N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	784	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACCATTGTCATCTACCACA	0.323000														49			11		0	0	0.000978159	0	0
PEAK1	79834	broad.mit.edu	37	15	77407410	77407410	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr15:77407410G>A	uc021sqy.1	-	7	4905	c.4329C>T	c.(4327-4329)tcC>tcT	p.S1443S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1443	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTCTTTCTGGGATGATGCTG	0.498000														80			33		0	0	0.00111076	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795746	69795746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr4:69795746G>A	uc003hef.2	-	5	1400	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	457						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGACTGCTCGATCTAGGGGC	0.448000														72			16		0	0	0.00074312	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112686019	112686019	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:112686019G>A	uc004bei.2	+	3	454	c.262G>A	c.(262-264)Gag>Aag	p.E88K	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.E90K|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.E88K|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.E88K|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.E88K|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	740							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TTCCAGGCTGGAGCAAGAAAT	0.443000														4			5		0	0	3.59834e-05	0	0
MGAM	8972	broad.mit.edu	37	7	141759716	141759716	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:141759716G>A	uc003vwy.3	+	32	4063	c.4009G>A	c.(4009-4011)Gat>Aat	p.D1337N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1337	Glucoamylase.				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)	GGGCGTGGAGGATGACGTCTT	0.493000														29			5		0	0	3.59834e-05	0	0
ABCB5	340273	broad.mit.edu	37	7	20683156	20683156	+	Silent	SNP	G	A	A			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr7:20683156G>A	uc010kuh.3	+	6	816	c.579G>A	c.(577-579)tcG>tcA	p.S193S		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTACTTTTTCGATTGGCCTGG	0.428000														86			22		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179581852	179581852	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr2:179581852C>T	uc021vsy.1	-	84	22102	c.21877G>A	c.(21877-21879)Gac>Aac	p.D7293N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3954N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8220	Ig-like 55.						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)			GAACAAGAGTCTTTTCCAGCG	0.448000														33			13		0	0	0.000219431	0	0
APC	324	broad.mit.edu	37	5	112175912	112175912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr5:112175912C>T	uc003kpz.4	+	16	4814	c.4621C>T	c.(4621-4623)Cag>Tag	p.Q1541*	APC_uc011cvt.2_Nonsense_Mutation_p.Q1523*|APC_uc003kpy.4_Nonsense_Mutation_p.Q1541*|APC_uc010jbz.3_Nonsense_Mutation_p.Q1258*|APC_uc010jca.3_Nonsense_Mutation_p.Q841*	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1541	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q1541*(2)|p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.E1540fs*25(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAATCAGAGCAGCCTAAAGA	0.358000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				37			13		0	0	0.000151284	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	218	---	---	7	---					
JAK2	3717	broad.mit.edu	37	9	5055745	5055745	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:5055745delA	uc010mhm.3	+	6	1126	c.1013delA	c.(1012-1014)gaafs	p.E338fs	JAK2_uc003ziw.3_Frame_Shift_Del_p.E338fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	338	FERM.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGTTCAAATGAAAGCCGAGTT	0.294		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				---	24	---	---	11	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	GGCGGCGGC	GGCGGCGGC	rs3833707	by1000genomes	TCGA-FS-A1ZB-06A-12D-A197-08	TCGA-FS-A1ZB-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	028bca79-1c1c-43b4-9076-63516255f81d	ff8b8f87-3191-4f84-b85b-28cf388044b4	g.chr9:12775861_12775862insGGCGGCGGC	uc003zkw.3	+	0	850_851	c.147_148insGGCGGCGGC	c.(145-150)insGGCGGCGGC	p.55_56insGGG		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	58	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													---	3	---	---	3	---