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
CNTN2	6900	broad.mit.edu	37	1	205031674	205031674	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:205031674C>T	uc001hbr.3	+	9	1486	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CNTN2_uc001hbq.1_Missense_Mutation_p.A297V|CNTN2_uc001hbs.3_Missense_Mutation_p.A194V	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	406	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCATCTACGCCAGCGCCGAG	0.582000													42	39					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699812	136699812	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:136699812G>C	uc003vtf.1	+	3	823	c.200G>C	c.(199-201)tGt>tCt	p.C67S	CHRM2_uc003vtg.1_Missense_Mutation_p.C67S|CHRM2_uc003vti.1_Missense_Mutation_p.C67S|CHRM2_uc003vtm.1_Missense_Mutation_p.C67S|CHRM2_uc003vtj.1_Missense_Mutation_p.C67S|CHRM2_uc003vtk.1_Missense_Mutation_p.C67S|CHRM2_uc003vtl.1_Missense_Mutation_p.C67S|CHRM2_uc003vtn.1_Missense_Mutation_p.C67S|CHRM2_uc003vto.1_Missense_Mutation_p.C67S|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.C67S	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	67					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGCTTGGCCTGTGCTGACCTT	0.458000													15	185					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890604	32890604	+	Silent	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:32890604C>G	uc002edh.1	-	4	458	c.282G>C	c.(280-282)ccG>ccC	p.P94P	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CACCCCACCACGGGTACACGT	0.597000													8	4					0	0	1	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:54219926C>T	uc021vag.1	+	0		c.79C>T								Homo sapiens microRNA 521-2 (MIR521-2), microRNA.																		AGAGTGTTACCGTGTGAGAAA	0.428000													50	58					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898502	50898502	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:50898502T>C	uc003blh.3	-	25	3565	c.3370A>G	c.(3370-3372)Agg>Ggg	p.R1124G	SBF1_uc011arx.2_Missense_Mutation_p.R788G	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1124	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAAGCCCTTTCCACCAGG	0.672000													56	5					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161277800	161277800	+	Splice_Site	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:161277800A>T	uc010jiw.3	+	3	454	c.-14_splice	c.e3-2		GABRA1_uc010jix.3_Splice_Site|GABRA1_uc010jiy.3_Splice_Site|GABRA1_uc003lyx.4_Splice_Site|GABRA1_uc010jiz.3_Splice_Site|GABRA1_uc010jja.3_Splice_Site|GABRA1_uc010jjb.3_5'UTR	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCTACTTTTCAGCTGCTCCAG	0.488000													11	46					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701285	195701285	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:195701285G>T	uc011btq.1	-	7	1208	c.579C>A	c.(577-579)cgC>cgA	p.R193R	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		GCACGACTCTGCGATGCTCAG	0.537000													4	55					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118971901	118971901	+	Missense_Mutation	SNP	C	C	T	rs143538947	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:118971901C>T	uc004erz.2	-	9	1221	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	UPF3B_uc004esa.2_Missense_Mutation_p.R361H	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	374	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R373C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTTCTGCCTACGGCGCTCTTC	0.463000													4	141					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	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	60					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89624275C>T	uc001kfb.3	+	0	1081	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	17	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Q17*(11)|p.Q17del(4)|p.Y16fs*28(3)|p.Y16fs*1(3)|p.Y16C(2)|p.Y16fs*21(2)|p.Y16*(2)|p.R14_D22del(2)|p.Q17P(1)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*27(1)|p.N12fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			51	60					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2485	2485	+	RNA	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrGL000237.1:2485C>T	uc011mgu.1	-	0		c.202G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccggctgccatcttactgc	0.627000													3	19					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833169	116833169	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:116833169A>T	uc003pwy.3	+	0	362	c.310A>T	c.(310-312)Act>Tct	p.T104S	BET3L_uc003pwx.3_Intron|BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	104						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CGGCCAGATCACTCTGAGCTC	0.522000													17	47					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25720242	25720242	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:25720242G>T	uc003xes.2	-	10	1346	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATCTCTCAGGATCTCCAGGA	0.418000													10	67					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:169267840G>A	uc003maf.3	+	26	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.R420Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	928					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453000													6	22					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588159	153588159	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:153588159G>T	uc004fkk.2	-	22	4169	c.3920C>A	c.(3919-3921)aCc>aAc	p.T1307N	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.T1307N	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1307					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAACGTAGGTCTCCGTCAG	0.652000													25	101					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765178	141765178	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:141765178C>T	uc003vwy.3	+	37	4582	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1510	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGTCATCACCCGCTCCACATT	0.592000													3	33					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923476	150923476	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:150923476A>C	uc003lue.4	-	8	7225	c.7212T>G	c.(7210-7212)atT>atG	p.I2404M		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2404	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCAGGGTCAATAGCCTGGA	0.473000													8	42					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559085	210559085	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr2:210559085A>G	uc002vde.1	+	6	2439	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	MAP2_uc002vdc.1_Missense_Mutation_p.I731V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I727V	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	731					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.I731S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCTTCCGATATTCTAACCAA	0.468000													36	143					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196507	8196507	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8196507C>T	uc002mjf.3	-	13	1938	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	641	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGCAGCACTCGGACTTGGTG	0.667000													40	45					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28118920	28118920	+	Missense_Mutation	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:28118920C>G	uc002dpa.1	-	17	2921	c.2420G>C	c.(2419-2421)cGa>cCa	p.R807P	XPO6_uc002dpb.1_Missense_Mutation_p.R793P|XPO6_uc010vcp.1_Missense_Mutation_p.R807P	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	807					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCAAATCTGTCGAGACTTGGT	0.512000													17	86					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409679	13409679	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:13409679C>T	uc002mwy.3	-	18	3004	c.2768G>A	c.(2767-2769)gGc>gAc	p.G923D	CACNA1A_uc010dzc.2_Missense_Mutation_p.G449D|CACNA1A_uc010xnd.2_Missense_Mutation_p.G926D|CACNA1A_uc021ups.1_Missense_Mutation_p.G923D|CACNA1A_uc010xne.2_Missense_Mutation_p.G926D|CACNA1A_uc010dze.2_Missense_Mutation_p.G923D|CACNA1A_uc021upt.1_Missense_Mutation_p.G924D	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	924					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R923Q(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCGGCCTTGCCTCGCTCGGC	0.771000													10	5					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716084	52716084	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:52716084C>A	uc002pyp.3	+	4	944	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	PPP2R1A_uc010ydk.2_Missense_Mutation_p.Q162K|PPP2R1A_uc010epm.1_Missense_Mutation_p.Q257K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.Q38K	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	217	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.E216K(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTGACGAGCAGGTGAGTTT	0.597000			Mis		clear cell ovarian carcinoma								81	91					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7577557A>T	uc002gim.2	-	6	918	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_uc002gig.1_Missense_Mutation_p.C242S|TP53_uc002gih.3_Missense_Mutation_p.C242S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110S|TP53_uc010cnf.1_Missense_Mutation_p.C110S|TP53_uc002gii.1_Missense_Mutation_p.C110S|TP53_uc010cni.1_Missense_Mutation_p.C242S|TP53_uc010cnh.1_Missense_Mutation_p.C242S|TP53_uc002gij.2_Missense_Mutation_p.C242S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149S|TP53_uc002gio.2_Missense_Mutation_p.C110S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.S241F(78)|p.C242F(74)|p.C242Y(41)|p.C242S(37)|p.C242R(24)|p.S241C(24)|p.C242fs*5(17)|p.S241fs*6(9)|p.S241A(9)|p.0?(8)|p.S241Y(8)|p.S241del(7)|p.C242W(7)|p.N239_C242delNSSC(6)|p.S241T(6)|p.?(5)|p.C242G(4)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242fs*23(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S241_C242insX(2)|p.C242C(2)|p.C242fs*98(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S241fs*23(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)		CCGCCCATGCAGGAACTGTTA	0.577000		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)			33	2					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138483289	138483289	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:138483289G>T	uc003qhu.3	+	0	237	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	22					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCATCAAGGAGAGCTGCACCT	0.701000													23	14					0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220662	146220662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:146220662G>T	uc003zey.3	+	0	412	c.391G>T	c.(391-393)Gag>Tag	p.E131*	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		GCATGGAGTGGAGGTGAAAAA	0.408000													5	109					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:1563731A>G	uc002fte.3	-	29	4894	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1594						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCACCTGACATAAGTCCATA	0.522000													381	26					0	0	1	0	0
GOLGA7	51125	broad.mit.edu	37	8	41363429	41363429	+	Splice_Site	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:41363429G>A	uc003xnu.3	+	4	343	c.265_splice	c.e4-1	p.V89_splice	GOLGA7_uc022auf.1_Splice_Site_p.V89_splice|GOLGA7_uc003xnw.3_Splice_Site_p.V89_splice	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	Homo sapiens golgin A7 (GOLGA7), transcript variant 1, mRNA.	89						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTTTCTGTCAGGTTCTGAAGA	0.438000													5	38					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19682374	19682374	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:19682374T>C	uc022asn.1	+	7	1028	c.897T>C	c.(895-897)gaT>gaC	p.D299D	INTS10_uc003wzj.3_Silent_p.D299D	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	299					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACAACTTTGATAGTGAAGCAC	0.363000													41	20					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61180412	61180412	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:61180412C>T	uc001xfc.3	-	2	2119	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	687						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAACTATTTCCCCAAGGGCA	0.473000													22	13					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3143448	3143448	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:3143448G>A	uc011ask.2	-	5	939	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	IL5RA_uc010hbq.3_Missense_Mutation_p.R99W|IL5RA_uc010hbr.3_Missense_Mutation_p.R99W|IL5RA_uc010hbs.3_Missense_Mutation_p.R99W|IL5RA_uc011asl.2_Missense_Mutation_p.R99W|IL5RA_uc011asm.1_Missense_Mutation_p.R99W|IL5RA_uc010hbt.2_Missense_Mutation_p.R99W|IL5RA_uc011asn.1_Missense_Mutation_p.R99W|IL5RA_uc010hbu.2_Missense_Mutation_p.R99W	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	99					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGGATGGTCCGCACACTTGCT	0.463000													17	21					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759376	121759376	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:121759376A>C	uc003ksw.1	+	3	1150	c.944A>C	c.(943-945)tAt>tCt	p.Y315S	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.Y315S|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.Y362S|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.Y315S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	315					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAGTGAGTATCTGAAAAAA	0.448000													19	103					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73044555	73044555	+	RNA	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:73044555G>A	uc004ebn.2	+	0		c.32516G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TGAATTAAGTGACTTTCGGTC	0.323000													4	30					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19732106	19732106	+	Missense_Mutation	SNP	T	T	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:19732106T>A	uc002ykw.3	-	7	879	c.848A>T	c.(847-849)tAt>tTt	p.Y283F		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	283	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TACACCTTCATAAATATCTAA	0.259000													7	20					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2377168	2377168	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:2377168G>T	uc002wfy.1	+	3	502	c.441G>T	c.(439-441)ctG>ctT	p.L147L	TGM6_uc010gal.1_Silent_p.L147L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	147					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGTTTCTGGCCTCAGAGG	0.617000													12	90					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955645	40955645	+	Missense_Mutation	SNP	T	T	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:40955645T>G	uc003jmh.3	+	9	1364	c.1250T>G	c.(1249-1251)aTa>aGa	p.I417R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTCAAGTCATAAAACAAAAG	0.398000													4	88					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182829308	182829308	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:182829308G>T	uc001gpr.3	+	11	1496	c.1321G>T	c.(1321-1323)Gta>Tta	p.V441L	DHX9_uc001gps.3_Missense_Mutation_p.V227L	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	441	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGTAACATCGTAGTAACTCA	0.378000													22	45					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069555	150069555	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:150069555G>A	uc022apt.1	-	0	479	c.111C>T	c.(109-111)ccC>ccT	p.P37P	REPIN1_uc003whd.2_Missense_Mutation_p.G398R|REPIN1_uc010lpq.1_Missense_Mutation_p.G409R|REPIN1_uc010lpr.1_Missense_Mutation_p.G466R|REPIN1_uc003whc.2_Missense_Mutation_p.G409R|REPIN1_uc003whe.2_Missense_Mutation_p.G409R			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	325					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGCCGAGTGCGGGAAGAACTT	0.721000													3	11					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78207569	78207569	+	Missense_Mutation	SNP	G	G	A	rs56314252	by1000genomes	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr15:78207569G>A	uc010bky.2	-	17	2107	c.1343C>T	c.(1342-1344)gCa>gTa	p.A448V	LOC645752_uc010umq.1_Missense_Mutation_p.A95V|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GATCTGCTGTGCAGTGGGGTT	0.572000													5	69					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4855406	4855406	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:4855406C>T	uc001qne.1	+	5	1247	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	385	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGAGAGAACGTGGAGCTTA	0.498000													37	56					0	0	1	0	0
RBBP9	10741	broad.mit.edu	37	20	18477788	18477788	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:18477788C>T	uc002wqy.3	-	0	100	c.24G>A	c.(22-24)gtG>gtA	p.V8V		NM_006606	NP_006597	O75884	RBBP9_HUMAN	Homo sapiens retinoblastoma binding protein 9 (RBBP9), mRNA.	8						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CGGGAACAATCACTGCCTTGC	0.662000													4	46					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8486873	8486873	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8486873C>T	uc002mjv.3	+	2	590	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MARCH2_uc002mjw.3_Missense_Mutation_p.T50I|MARCH2_uc002mjx.3_Missense_Mutation_p.T50I	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	50					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CTCCTCTCCACCGTCATCCGT	0.627000													19	54					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449630	105449630	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:105449630T>C	uc022cca.1	+	0	205	c.205T>C	c.(205-207)Tca>Cca	p.S69P	MUM1L1_uc004emg.2_Missense_Mutation_p.S69P|MUM1L1_uc004emf.2_Missense_Mutation_p.S69P	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	69										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTGCTGCCTCATTAGGACT	0.388000													7	27					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19216533	19216533	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:19216533G>A	uc002nlf.2	+	4	533	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SLC25A42_uc010xqn.1_Missense_Mutation_p.G178E	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	126					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTTCCGTGGAGAGTGAGgc	0.672000													4	5					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520497	52520497	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:52520497G>A	uc001wzo.3	-	4	1463	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I	NID2_uc010tqs.2_Missense_Mutation_p.T410I|NID2_uc010tqt.1_Missense_Mutation_p.T410I|NID2_uc001wzp.3_Missense_Mutation_p.T410I	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	410						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGTGGTGGGGTTTCCCAGGA	0.557000													39	53					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032537	46032537	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:46032537A>C	uc002zfo.1	+	0	542	c.520A>C	c.(520-522)Atc>Ctc	p.I174L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	174	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCAAGCCCATCTGCTGTGT	0.622000													176	240					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149418077	149418077	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:149418077C>T	uc003wfz.3	+	3	705	c.306C>T	c.(304-306)ccC>ccT	p.P102P	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	102										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGAGCCCCGAGGGTAAGT	0.617000													23	40					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824623	54824623	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:54824623G>C	uc002xxb.2	+	0	836	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GAAGGGGGCAGTCACCATCAC	0.607000													92	21					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455920	83455920	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr15:83455920C>T	uc002bjd.2	-	1	390	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	FSD2_uc010uol.1_Missense_Mutation_p.V75I|FSD2_uc010uom.1_Missense_Mutation_p.V75I	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	75										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATAAGTGGACAAGTTCATCC	0.423000													14	75					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75184771	75184771	+	Missense_Mutation	SNP	C	C	T	rs138838220		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:75184771C>T	uc003uds.2	-	18	1957	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	HIP1_uc011kfz.2_Missense_Mutation_p.A638T	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	638					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGTTCAGGGCGTCTTGTATC	0.552000			T	PDGFRB	CMML								55	34					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797193	127797193	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:127797193G>A	uc003qbd.3	-	5	2843	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	660						integral to membrane		p.R660W(1)									ACGTTCCTCCGCAGCAGCTCC	0.647000													19	79					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95602757	95602757	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:95602757G>A	uc001tdp.4	-	1	2527	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	768					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTCCGTATAGCCATAATAAA	0.443000													16	64					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	639302	639302	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:639302C>T	uc003jbf.3	+	7	1377	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	435					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGAGCTGGGGCGGCTGCAGGT	0.672000													13	106					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587891	55587891	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:55587891G>T	uc010rin.2	+	0	786	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V262V(2)|p.C261F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTACTGTGTGCCCAACTCCA	0.527000													32	26					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504556	151504556	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:151504556G>A	uc003ilw.3	+	0	1480	c.375G>A	c.(373-375)gcG>gcA	p.A125A	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	125					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATCTCTCAGCGCGTAAGATCC	0.627000													41	105					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263305	34263305	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:34263305T>C	uc002nus.4	+	4	1117	c.612T>C	c.(610-612)aaT>aaC	p.N204N	CHST8_uc002nut.4_Silent_p.N204N|CHST8_uc002nuu.3_Silent_p.N204N	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	204					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.S203S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTGCTCCAATTGGAAGCGGG	0.682000													54	65					0	0	1	0	0
JA040725	0	broad.mit.edu	37	MT	15888	15888	+	Splice_Site	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrM:15888G>A	uc022bqs.1	-	1		c.1_splice	c.e1-1		JA040723_uc022bqt.1_5'Flank|DQ590013_uc022bqv.1_5'Flank|AF079515_uc004coz.1_5'Flank					Homo sapiens piRNA piR-34804, complete sequence.																		CAAATGGGCCTGTCCTTGTAG	0.373000													5	41					0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	G	A	rs114681793	by1000genomes	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000													5	52					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19955931	19955931	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:19955931C>A	uc002wro.2	+	7	1558	c.1409C>A	c.(1408-1410)cCg>cAg	p.P470Q	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Missense_Mutation_p.P215Q	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	421					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCACGGCCCCCGTGCCATGGA	0.687000													6	23					0	0	1	0	0
BHLHE23	128408	broad.mit.edu	37	20	61637712	61637712	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:61637712G>A	uc002yeb.2	-	0	676	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	Homo sapiens basic helix-loop-helix family, member e23 (BHLHE23), mRNA.	123	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						ACGGCTCGCAGCCCGTCCAGC	0.692000													5	44					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914009	39914009	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:39914009G>C	uc002hxq.2	-	10	2078	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.Q601E|JUP_uc002hxs.2_Missense_Mutation_p.Q601E	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	601					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCACGCGCTGGATGTTCTCC	0.667000													38	0					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47682239	47682239	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:47682239C>T	uc003gxm.3	-	7	1144	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	CORIN_uc011bzf.2_Missense_Mutation_p.G212R|CORIN_uc011bzg.2_Missense_Mutation_p.G284R|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.4_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	351	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.C350C(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCCGTCCCCGCAGCGATGC	0.547000													35	17					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204237436	204237436	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:204237436G>C	uc001hau.3	-	3	424	c.107C>G	c.(106-108)aCt>aGt	p.T36S		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	36										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCTGTGCGAGTTGCCTGGGG	0.597000													33	30					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700935	23700935	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:23700935C>T	uc002dlz.1	+	8	1599	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	516	POLO box 2.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GACCTGGTTCCGCACCCGCAG	0.632000													21	29					0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14535162	14535162	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:14535162T>C	uc001mll.3	-	7	861	c.516A>G	c.(514-516)caA>caG	p.Q172Q	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Silent_p.Q166Q	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	166					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TACGAGCTGATTGGGAACGGG	0.388000													32	31					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725735	15725735	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:15725735G>C	uc003stc.3	-	0	574	c.293C>G	c.(292-294)tCt>tGt	p.S98C		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	98					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGTGGGGAAGACATCTGCGG	0.667000													7	12					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092954	1092954	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:1092954G>A	uc001lsx.1	+	30	4800	c.4773G>A	c.(4771-4773)acG>acA	p.T1591T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1607	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1590T(2)|p.T1590N(2)|p.T1590I(2)|p.T1591I(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccactacggtgaccccaa	0.627000													3	6					0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45590702	45590702	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:45590702G>A	uc010tqf.2	-	3	790	c.440C>T	c.(439-441)aCt>aTt	p.T147I		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	147	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	p.D146H(1)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTGAATATTAGTATCAAAAAC	0.363000													5	35					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449729	61449729	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr18:61449729G>T	uc002ljl.3	+	1	219	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SERPINB7_uc002ljm.3_Silent_p.L41L|SERPINB7_uc010xet.2_Silent_p.L41L|SERPINB7_uc010dqg.3_Silent_p.L41L	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	41					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCCTGGCCCTGGTCCGCTTGG	0.473000													19	68					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110454197	110454197	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:110454197C>T	uc001tpx.3	+	3	618	c.359C>T	c.(358-360)cCg>cTg	p.P120L	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc009zvm.2_Missense_Mutation_p.P120L|ANKRD13A_uc010sxw.2_Missense_Mutation_p.P120L	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	120										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTTCAGGCTCCGGATTTCTAT	0.433000													38	18					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933118	39933118	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:39933118C>T	uc004den.4	-	3	1773	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	BCOR_uc004dep.4_Missense_Mutation_p.C494Y|BCOR_uc004deo.4_Missense_Mutation_p.C494Y|BCOR_uc004dem.4_Missense_Mutation_p.C494Y|BCOR_uc004deq.4_Missense_Mutation_p.C494Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	494					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATAGATAGCACAACCATTTCC	0.522000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						10	33					0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	-	CC	rs143568999	by1000genomes	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													5	4	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:195452664delC	uc010hzo.3	+	2	803	c.677delC	c.(676-678)accfs	p.T226fs	MUC20_uc010hzp.3_Frame_Shift_Del_p.T191fs|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													4	7	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720780	89720780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89720780delA	uc001kfb.3	+	7	1963	c.931delA	c.(931-933)aatfs	p.N311fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	311	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.N311fs*6(1)|p.N311fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCGTGCAGATAATGACAAGGA	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	47	---	---	---	---					
