Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs10592950		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:170871040A>G	uc003qxu.3	+	2	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_uc011ehf.2_Silent_p.Q52Q|TBP_uc003qxt.3_Silent_p.Q72Q|TBP_uc011ehg.1_Silent_p.Q72Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(6)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567000													4	79					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	C	T	rs141013110		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	137					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637615	17637615	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:17637615A>C	uc003ncd.1	-	15	2433	c.2233T>G	c.(2233-2235)Tgt>Ggt	p.C745G	NUP153_uc011dje.1_Missense_Mutation_p.C776G|NUP153_uc010jpl.1_Missense_Mutation_p.C703G	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	745					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTTTCACAGGCTACACAT	0.443000													43	116					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:7577565T>C	uc002gim.2	-	6	910	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_uc002gig.1_Missense_Mutation_p.N239S|TP53_uc002gih.3_Missense_Mutation_p.N239S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.N107S|TP53_uc010cnf.1_Missense_Mutation_p.N107S|TP53_uc002gii.1_Missense_Mutation_p.N107S|TP53_uc010cni.1_Missense_Mutation_p.N239S|TP53_uc010cnh.1_Missense_Mutation_p.N239S|TP53_uc002gij.2_Missense_Mutation_p.N239S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.N146S|TP53_uc002gio.2_Missense_Mutation_p.N107S|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(57)|p.N239S(50)|p.C238F(36)|p.N239D(33)|p.C238S(19)|p.N239fs*25(15)|p.C238R(14)|p.N239T(8)|p.0?(8)|p.N239K(7)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.N239Y(6)|p.?(5)|p.N239fs*1(4)|p.C238*(4)|p.N239_S240delNS(4)|p.N146S(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.N239_S240insN(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.C238_M246delCNSSCMGGM(2)|p.N239fs*8(2)|p.C238W(2)|p.C238del(2)|p.C238G(2)|p.C238fs*21(2)|p.N239I(2)|p.N239*(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_C242del(2)|p.N239fs*26(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.N239fs*?(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239N(1)|p.H233fs*6(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.C238fs*2(1)|p.C238_N239insX(1)|p.M237_C238insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGAACTGTTACACATGTA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			59	4					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445064	10445064	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:10445064T>C	uc003gmn.3	-	2	3376	c.2889A>G	c.(2887-2889)atA>atG	p.I963M	ZNF518B_uc021xme.1_Missense_Mutation_p.I963M	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGTATTTATTTATTACCTTCA	0.458000													4	77					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44057543	44057543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:44057543C>A	uc001cjr.3	+	9	1932	c.1592C>A	c.(1591-1593)tCg>tAg	p.S531*	PTPRF_uc001cjs.3_Nonsense_Mutation_p.S531*|PTPRF_uc001cju.3_Nonsense_Mutation_p.S102*|PTPRF_uc009vwt.3_Nonsense_Mutation_p.S102*|PTPRF_uc001cjv.3_Nonsense_Mutation_p.S102*	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	531	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCAGCTCTCGTGGCTGCTG	0.632000													36	37					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													3	38					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18707437	18707437	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr19:18707437C>T	uc010ebt.2	-	5	1213	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	340					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCACCACTGCGGGGAGTGGA	0.552000													13	32					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845387	62845387	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:62845387G>A	uc010ihh.3	+	14	2881	c.2708G>A	c.(2707-2709)cGg>cAg	p.R903Q	LPHN3_uc003hcq.4_Missense_Mutation_p.R903Q|LPHN3_uc003hct.3_Missense_Mutation_p.R296Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCTTTTTCCGGGGGCTCCAG	0.493000													76	75					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003749	50003749	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:50003749C>A	uc010ria.2	-	0	323	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAGGCTTGAGCCATACACCCA	0.423000													33	83					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32616940	32616940	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:32616940G>T	uc003xiv.2	+	9	1564	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	NRG1_uc022ats.1_Missense_Mutation_p.Q299H|NRG1_uc011lbf.1_Missense_Mutation_p.Q346H|NRG1_uc010lvo.2_Missense_Mutation_p.Q346H|NRG1_uc003xiu.2_Missense_Mutation_p.Q354H|NRG1_uc003xiw.2_Missense_Mutation_p.Q346H|NRG1_uc003xit.2_Missense_Mutation_p.Q349H|NRG1_uc010lvr.2_Missense_Mutation_p.Q91H|NRG1_uc010lvs.2_Missense_Mutation_p.Q91H|NRG1_uc010lvp.2_Missense_Mutation_p.Q303H|NRG1_uc010lvq.2_Missense_Mutation_p.Q279H|NRG1_uc011lbg.1_Missense_Mutation_p.Q195H|NRG1_uc011lbh.1_Missense_Mutation_p.Q192H|NRG1_uc003xja.2_Missense_Mutation_p.Q160H	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	349					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTCACCCAGACTCCTAGCC	0.448000													20	66					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142443429	142443429	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:142443429G>T	uc003evc.3	+	0	164	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	TRPC1_uc003evb.3_Missense_Mutation_p.D10Y	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	10					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCCGAGCACGGACCTCTCGGG	0.716000													9	21					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:56482341G>T	uc001sjh.3	+	7	1165	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.D238Y|ERBB3_uc001sji.3_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	297					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512000													76	192					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121174898	121174898	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:121174898G>A	uc001tza.4	+	2	438	c.320G>A	c.(319-321)cGt>cAt	p.R107H	ACADS_uc010szl.1_Missense_Mutation_p.R107H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	107			R -> C (in ACADSD).			mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GAGATCAGCCGTGGCTGCGCC	0.672000													3	1					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135433	156135433	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:156135433G>A	uc003ioq.3	+	1	831	c.342G>A	c.(340-342)ggG>ggA	p.G114G	NPY2R_uc003ior.3_Silent_p.G114G|NPY2R_uc021xtm.1_Silent_p.G114G	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	114					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTTAATGGGGGAGTGGAAAA	0.507000													21	20					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632493	102632493	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:102632493G>C	uc002tbm.3	+	3	722	c.493G>C	c.(493-495)Gtg>Ctg	p.V165L	IL1R2_uc002tbn.3_Missense_Mutation_p.V165L|IL1R2_uc002tbo.1_Missense_Mutation_p.V165L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	165	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.D164D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CAAAACTGACGTGAAGATTCA	0.373000													11	40					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	74					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:95522815A>G	uc010fhp.3	-	0		c.6T>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATCTTCTGCAATTCGGAGTCC	0.652000													4	132					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	36					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110590123	110590123	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:110590123C>T	uc010mcp.3	-	6	1220	c.858G>A	c.(856-858)aaG>aaA	p.K286K	SYBU_uc003yni.4_Silent_p.K283K|SYBU_uc003ynk.4_Silent_p.K167K|SYBU_uc003ynj.4_Silent_p.K286K|SYBU_uc010mco.3_Silent_p.K285K|SYBU_uc003ynl.4_Silent_p.K285K|SYBU_uc010mcq.3_Silent_p.K286K|SYBU_uc003yno.4_Silent_p.K167K|SYBU_uc010mcr.3_Silent_p.K286K|SYBU_uc003ynm.4_Silent_p.K285K|SYBU_uc003ynn.4_Silent_p.K285K|SYBU_uc010mcs.3_Silent_p.K167K|SYBU_uc010mct.3_Silent_p.K286K|SYBU_uc010mcu.3_Silent_p.K285K|SYBU_uc003ynp.4_Silent_p.K218K|SYBU_uc010mcv.3_Silent_p.K286K|SYBU_uc003ynh.4_Silent_p.K80K|SYBU_uc011lhw.2_Silent_p.K156K	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	286	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane		p.S285C(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTCAGATTCCTTCAGCTTGG	0.478000													49	122					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13103268	13103268	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:13103268G>A	uc010shp.2	-	0	51	c.51C>T	c.(49-51)gaC>gaT	p.D17D		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	17						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCCCCTCGGCGTCACAGAGAA	0.507000													33	95					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74407730	74407730	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr14:74407730G>A	uc001xpd.2	-	4	1687	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCCTTGGCAGGGGTGTAGCTG	0.478000													24	73					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229900	87229900	+	Silent	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:87229900T>G	uc003ydq.1	-	2	1076	c.978A>C	c.(976-978)ctA>ctC	p.L326L	SLC7A13_uc003ydr.1_Silent_p.L317L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	326						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTGTATTAAATAGCAAAGGCA	0.358000													6	146					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268462	1268462	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:1268462C>T	uc001lta.3	+	30	10411	c.10352C>T	c.(10351-10353)aCg>aTg	p.T3451M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3451	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAACACCACGGCCACCACA	0.687000													11	55					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011295	50011295	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:50011295C>T	uc011dws.2	-	1	335	c.335G>A	c.(334-336)cGt>cAt	p.R112H		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	112					defense response to bacterium	extracellular region		p.R112G(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTCAATGACGTGAGTCTTT	0.403000													10	15					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138860776	138860776	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:138860776A>T	uc003lep.3	-	3	681	c.379T>A	c.(379-381)Tcg>Acg	p.S127T		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	127					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGCCTGCGAGAGGCCCAGG	0.622000													36	42					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148701262	148701262	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148701262T>G	uc003wff.2	-	9	1844	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	521	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTGTTGTTCTTGGGCACTGG	0.562000													5	174					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123169430	123169430	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:123169430C>T	uc004bkf.3	-	31	5004	c.4823G>A	c.(4822-4824)aGc>aAc	p.S1608N	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.S617N|CDK5RAP2_uc004bke.3_Missense_Mutation_p.S893N|CDK5RAP2_uc004bkg.3_Intron|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.S873N|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.S873N|CDK5RAP2_uc011lya.2_Missense_Mutation_p.S873N|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1378N|CDK5RAP2_uc004bki.3_3'UTR	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1608					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GGTTTCGATGCTCCTTTCTAG	0.602000													25	38					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115078572	115078572	+	RNA	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:115078572G>T	uc001eez.3	-	28		c.5071C>A				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		CTTTGCGTTTGCAGTGTAGCC	0.547000													10	13					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148702238	148702238	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148702238T>C	uc003wff.2	-	8	1799	c.1517A>G	c.(1516-1518)aAa>aGa	p.K506R		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	506	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCACCTTTTTTGAAAGCAGT	0.607000													62	162					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413570	68413570	+	RNA	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:68413570G>A	uc004aex.3	+	0		c.125G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCCCAGTGGCGCCGGATCTAG	0.602000													4	35					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497429	149497429	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:149497429C>T	uc010lpk.3	+	48	7178	c.7178C>T	c.(7177-7179)aCg>aTg	p.T2393M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2396	LDL-receptor class A 9.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCAGACGCCCTGTGAG	0.687000													10	19					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55771473	55771473	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:55771473G>C	uc002ryx.2	+	9	1168	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	CCDC104_uc002ryy.2_Missense_Mutation_p.E299Q	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	299										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAAAATATGGAGCAGAAAGG	0.398000													36	47					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263136	263136	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:263136G>A	uc021tna.1	+	1	518	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	C17orf97_uc010vpz.1_5'Flank	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	168										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TCGGATCAACGAAAGTCTGCG	0.517000													81	34					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694637	49694637	+	Missense_Mutation	SNP	C	C	T	rs150764510	by1000genomes	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:49694637C>T	uc003cxe.4	+	4	7762	c.7648C>T	c.(7648-7650)Cgt>Tgt	p.R2550C		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2550					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGGCCAGCCGTAGTGGCAT	0.627000													23	30					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240070975	240070975	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:240070975C>T	uc021plc.1	+	0	224	c.224C>T	c.(223-225)aCg>aTg	p.T75M	CHRM3_uc001hyp.3_Missense_Mutation_p.T75M	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	75					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GCTTTCTTAACGGGCATCCTG	0.507000													23	71					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65302778	65302778	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:65302778C>T	uc001oea.1	+	9	1388	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	SCYL1_uc009yqk.3_Silent_p.A437A|SCYL1_uc001oeb.1_Silent_p.A437A|SCYL1_uc001oec.1_Silent_p.A437A|SCYL1_uc001oee.1_Silent_p.A81A	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	437					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGCTACAGGCCAAGGATGAAC	0.577000													58	255					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43317508	43317508	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr10:43317508A>G	uc001jaj.3	+	19	3368	c.3010_splice	c.e19-2	p.P1004_splice		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1004					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCCTGTTAGCCTGATTTT	0.308000													16	57					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11115122	11115122	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:11115122G>A	uc001arz.1	-	6	876	c.785C>T	c.(784-786)cCg>cTg	p.P262L		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	262					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	CGGCTGCACCGGCTCCTGGAA	0.602000													30	62					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195510996	195510996	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:195510996G>A	uc021xjp.1	-	1	7611	c.7455C>T	c.(7453-7455)gaC>gaT	p.D2485D	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	243					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGACGAAGCGTCGGTGACAA	0.582000													4	18					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	17					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1273765	1273765	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:1273765C>T	uc001aer.4	-	12	1363	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	DVL1_uc009vka.3_Missense_Mutation_p.R122Q|DVL1_uc002quu.3_Missense_Mutation_p.R181Q|DVL1_uc001aeu.1_Missense_Mutation_p.R198Q	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	464	DEP.				Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTCCCGCCGCTCCTTGAA	0.657000													20	41					0	0	1	0	0
ITPKA	3706	broad.mit.edu	37	15	41794651	41794651	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr15:41794651C>G	uc001znz.3	+	4	1130	c.1060C>G	c.(1060-1062)Cag>Gag	p.Q354E		NM_002220	NP_002211	P23677	IP3KA_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase A (ITPKA), mRNA.	354					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGCCGAGAGCAGGTGCTTCG	0.617000													28	43					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000													5	33					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	77					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568733	229568733	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:229568733C>A	uc001htm.3	-	2	234	c.129_splice	c.e2+1	p.Q43_splice		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	43			Q -> R (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGCAGCCTGACCTGGTGTCGG	0.721000													20	61					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6664977	6664977	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:6664977G>A	uc010sfe.2	-	0	273	c.219C>T	c.(217-219)aaC>aaT	p.N73N	IFFO1_uc001qpc.2_Silent_p.N73N|IFFO1_uc001qpf.2_Silent_p.N73N|IFFO1_uc001qpe.2_Non-coding_Transcript	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	73						intermediate filament		p.N73K(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCACGTTGATGTTGGAGCCCA	0.706000													14	64					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588977	204588977	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:204588977G>A	uc021phy.1	-	0	144	c.144C>T	c.(142-144)cgC>cgT	p.R48R	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.R48R|LRRN2_uc001hbf.1_Silent_p.R48R|LRRN2_uc009xbf.1_Silent_p.R48R|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	48	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTAGCCTCGCGGTAGGACG	0.657000													23	77					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2186489	2186489	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:2186489C>T	uc001lvq.3	-	12	1419	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	TH_uc001lvp.3_Missense_Mutation_p.S463N|TH_uc001lvr.3_Missense_Mutation_p.S436N|TH_uc010qxj.2_Missense_Mutation_p.S440N|TH_uc001lvs.3_Missense_Mutation_p.S342N|TH_uc001lvt.3_Missense_Mutation_p.S346N	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	467					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCACTGAAGCTCTCAGACAC	0.622000													6	85					0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30457613	30457613	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:30457613A>G	uc011dmh.2	+	0	325	c.298A>G	c.(298-300)Aac>Gac	p.N100D	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Missense_Mutation_p.N59D			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	59	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GCGCTTCGACAACGACGCCGC	0.672000													32	87					0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413796	57413796	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:57413796A>G	uc001nkv.4	-	3	712	c.268T>C	c.(268-270)Tgc>Cgc	p.C90R	AK096335_uc001nkt.1_Intron|YPEL4_uc009ymk.3_Non-coding_Transcript	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN	Homo sapiens yippee-like 4 (Drosophila) (YPEL4), mRNA.	90						nucleolus		p.C90Y(1)		lung(2)|skin(1)	3						GTGGTTTTGCAGCTCTCACAG	0.557000													16	25					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167320	49167320	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:49167320G>C	uc003cwe.3	-	9	1656	c.1357C>G	c.(1357-1359)Cgt>Ggt	p.R453G	LAMB2_uc003cwf.1_Missense_Mutation_p.R453G	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	453	Laminin EGF-like 3.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGCCATCACGGCATTGCTGG	0.582000													5	165					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438615	75438615	+	Missense_Mutation	SNP	C	C	T	rs142019515	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:75438615C>T	uc010rru.2	+	2	406	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	MOGAT2_uc001oww.1_Missense_Mutation_p.R136C|MOGAT2_uc010rrv.2_Missense_Mutation_p.R54C	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	136					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCCCGGTATCCGCCCCCATCT	0.572000													148	58					0	0	1	0	0
AB231722	0	broad.mit.edu	37	11	58746382	58746382	+	Splice_Site	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:58746382G>T	uc001nnk.1	+	1		c.50_splice	c.e1+1		LOC283194_uc001nng.1_Intron					Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit14-11-15-F.																		GTCCCTGAAGGTGAGGGAACA	0.433000													7	2					0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:132481518C>T	uc004byh.3	+	1	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	Homo sapiens paired related homeobox 2 (PRRX2), mRNA.	90				P -> S (in Ref. 5; AAB39864).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657000													9	7					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624754	29624754	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29624754C>T	uc001rix.1	-	15	1837	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	613	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.A613V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGTGGGCTGCGGTCAGAATC	0.493000													4	25					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	A	G	rs1057378	by1000genomes	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000													4	79					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257222	140257222	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:140257222G>A	uc003lic.2	+	0	2292	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.R722H	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	730					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCGCTGCGTTGCTCAGCG	0.657000													31	43					0	0	1	0	0
BC012753	0	broad.mit.edu	37	GL000214.1	30540	30540	+	RNA	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrGL000214.1:30540G>A	uc011mfm.2	+	0		c.160G>A								Homo sapiens cDNA clone IMAGE:3625232, partial cds.																		TGGGCGCATCGCGGGCGGGCA	0.701000													3	13					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127958088	127958088	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:127958088C>T	uc003vmp.2	-	14	1750	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	RBM28_uc011koj.1_Silent_p.A404A	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	545	RRM 4.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTGGAACTCCGCAAAGGCGT	0.512000													15	28					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748168	101748168	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:101748168C>G	uc004azb.1	+	2	628	c.422C>G	c.(421-423)cCa>cGa	p.P141R		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	141	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACACGGAGCCAGGCTCCCAT	0.607000													11	86					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:153249385G>A	uc003ims.3	-	8	1555	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_uc011cii.2_Missense_Mutation_p.R465C|FBXW7_uc003imt.3_Missense_Mutation_p.R465C|FBXW7_uc011cih.2_Missense_Mutation_p.R289C|FBXW7_uc003imq.3_Missense_Mutation_p.R385C|FBXW7_uc003imr.3_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R465C(140)|p.R465H(56)|p.R226C(11)|p.R385C(11)|p.R465L(4)|p.R465Y(4)|p.R347C(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								31	68					0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109815251	109815251	+	Silent	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:109815251T>C	uc003ptn.2	-	39	5543	c.5466A>G	c.(5464-5466)ttA>ttG	p.L1822L	AKD1_uc011eas.1_Silent_p.L207L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1822					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ACTTGGGCTTTAAGCATCCCG	0.363000													15	28					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:52272573G>A	uc001ctc.4	-	19	2529	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_uc009vzb.3_Missense_Mutation_p.T431M|NRD1_uc001cte.3_Missense_Mutation_p.T604M|NRD1_uc001ctd.4_Missense_Mutation_p.T668M|NRD1_uc001ctf.2_Missense_Mutation_p.T668M|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	667					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCCTTCAACGTAAAGTCCGT	0.373000													20	67					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29494102	29494102	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29494102T>C	uc001riv.3	-	13	1254	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ERGIC2_uc001riw.3_Non-coding_Transcript	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA.	374				N -> S (in Ref. 4; BAD96519).	vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ATGTGTATTATTTTCTAAAAG	0.318000													3	12					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505790	195505790	+	Missense_Mutation	SNP	G	G	C	rs11928301		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:195505790G>C	uc021xjp.1	-	1	12817	c.12661C>G	c.(12661-12663)Cac>Gac	p.H4221D	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	978					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.587000													3	19					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73470684	73470684	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:73470684G>A	uc003tzw.3	+	19	1325	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.G412R|ELN_uc003tzy.3_Missense_Mutation_p.G407R|ELN_uc003tzz.3_Missense_Mutation_p.G376R|ELN_uc003tzo.3_Missense_Mutation_p.G398R|ELN_uc003tzp.3_Missense_Mutation_p.G368R|ELN_uc003tzq.3_Missense_Mutation_p.G295R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G412R|ELN_uc003tzt.3_Missense_Mutation_p.G417R|ELN_uc003tzu.3_Missense_Mutation_p.G417R|ELN_uc003tzv.3_Missense_Mutation_p.G402R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G402R|ELN_uc011kff.2_Missense_Mutation_p.G412R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	412	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGTCGGAGTCGGAGGTATCCC	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						51	118					0	0	1	0	0
C16orf88	400506	broad.mit.edu	37	16	19718345	19718345	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:19718345G>A	uc002dgq.3	-	4	1279	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	422	Interaction with ZFP106 (By similarity).					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						CTCATGGCCCGGTCGTAGTCC	0.612000													4	112					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24998725	24998725	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:24998725G>A	uc001bjm.3	+	16	2887	c.2663G>A	c.(2662-2664)cGt>cAt	p.R888H	SRRM1_uc010oel.2_Missense_Mutation_p.R900H	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	888					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAGCACCTGCGTGAAAAGGCC	0.413000													14	12					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154299598	154299598	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:154299598G>A	uc003lvx.3	-	10	1611	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	GEMIN5_uc011ddk.1_Missense_Mutation_p.H509Y	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	510					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGGATTATGCTGTAAGACA	0.413000													16	16					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948368	145948368	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:145948368C>T	uc003zdv.4	-	4	933	c.677G>A	c.(676-678)aGa>aAa	p.R226K		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCTGGTGTCTACTTAGGTC	0.428000													51	51					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109104168	109104168	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:109104168C>A	uc002tec.3	+	16	4098	c.3944C>A	c.(3943-3945)aCt>aAt	p.T1315N	GCC2_uc002ted.3_Missense_Mutation_p.T1214N	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1315					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAACAAGCTACTGTAACCTCT	0.348000													5	128					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505787	195505787	+	Missense_Mutation	SNP	C	C	T	rs11915935		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:195505787C>T	uc021xjp.1	-	1	12820	c.12664G>A	c.(12664-12666)Gcc>Acc	p.A4222T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	979					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.587000													3	19					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362129	99362129	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:99362129C>T	uc001vno.3	-	11	1014	c.937G>A	c.(937-939)Ggg>Agg	p.G313R		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	313					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACGATTTTCCCGGACATAGTT	0.368000													42	65					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14980689	14980689	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:14980689C>T	uc002dcv.3	+	27	3360	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1098						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCCTGTTCTTCCATTTCCCCC	0.473000													37	64					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39603503	39603503	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:39603503C>T	uc001uwy.3	-	3	1063	c.190G>A	c.(190-192)Gct>Act	p.A64T	PROSER1_uc001uwz.3_Missense_Mutation_p.A42T	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	64																	GGCTGGACAGCCACCATTTTC	0.318000													21	33					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52193289	52193289	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:52193289C>T	uc003jou.3	+	9	1508	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	365					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.A364A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTATAGCCACAGCTGACCAG	0.393000													6	6					0	0	1	0	0
LOC727982	727982	broad.mit.edu	37	2	4677171	4677171	+	RNA	DEL	G	G	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:4677171delG	uc002qyi.3	-	4		c.1311delC								Homo sapiens uncharacterized LOC727982 (LOC727982), non-coding RNA.																		TGTTGCTTTTGGGCCGCAGTA	0.393													2	4	---	---	---	---					
OR5K1	26339	broad.mit.edu	37	3	98189040	98189041	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:98189040_98189041delAA	uc003dsm.3	+	0	620_621	c.620_621delAA	c.(619-621)caafs	p.Q207fs		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTCAGTTCAAGTCTTTACCA	0.342													46	70	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAGGGAGCGGAG	rs71921617	by1000genomes	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	uc003hbk.2	+	7	1299_1300	c.908_909insGGAGCGGAGGGAGCGGAG	c.(907-909)gcg>gcGGAGCGGAGGGAGCGGAGg	p.303_304insERRERR	KIAA1211_uc010iha.2_In_Frame_Ins_p.296_297insERRERR|KIAA1211_uc011bzz.1_In_Frame_Ins_p.213_214insERRERR|KIAA1211_uc003hbm.1_In_Frame_Ins_p.189_190insERRERR	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	303	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733													2	4	---	---	---	---					
IRF2	3660	broad.mit.edu	37	4	185340713	185340715	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:185340713_185340715delTCT	uc003iwf.4	-	2	295_297	c.95_97delAGA	c.(94-99)aagatt>att	p.K32del		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	32					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCTGAAAAATCTTCTTTTCCTG	0.414													8	26	---	---	---	---					
SLC44A1	23446	broad.mit.edu	37	9	108118561	108118569	+	In_Frame_Del	DEL	CCCTGATCA	CCCTGATCA	-	rs41306484	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:108118561_108118569delCCCTGATCA	uc004bcn.3	+	5	790_798	c.569_577delCCCTGATCA	c.(568-579)gccctgatcacc>gcc	p.LIT191del	SLC44A1_uc004bco.1_5'UTR	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	191						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGCAGAGGCCCTGATCACCTTTGTCAG	0.407													9	40	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135946988	135946988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:135946988delC	uc010naa.1	+	10	2124	c.2108delC	c.(2107-2109)gccfs	p.A703fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	700	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACTCCGGGGCCCCCCCCGTG	0.821													3	4	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9589636	9589636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:9589636delG	uc009zgq.1	-	1	152	c.17delC	c.(16-18)ccgfs	p.P6fs	DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		CTCAGCCTCCGGGCCTGTCTC	0.617													2	4	---	---	---	---					
MIAT	440823	broad.mit.edu	37	22	27113997	27113997	+	RNA	DEL	C	C	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr22:27113997delC	uc003adf.1	+	1		c.884delC								Homo sapiens cDNA: FLJ22849 fis, clone KAIA987.																		gcctcagtctccagatggctc	0.468													2	4	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50719352	50719360	+	In_Frame_Del	DEL	TGCCGGCCT	TGCCGGCCT	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr22:50719352_50719360delTGCCGGCCT	uc003bkv.4	-	23	3899_3907	c.3806_3814delAGGCCGGCA	c.(3805-3816)gaggccggcatc>gtc	p.1269_1272EAGI>V	PLXNB2_uc003bkt.1_In_Frame_Del_p.61_64EAGI>V|PLXNB2_uc003bku.1_In_Frame_Del_p.254_257EAGI>V	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1269					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCACGGGGATGCCGGCCTCGTGCACGTC	0.646													24	5	---	---	---	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrX:135585048_135585050delAAG	uc004ezw.3	+	5	1104_1106	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_uc004ezx.3_In_Frame_Del_p.K232del	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													7	90	---	---	---	---					
