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
POMGNT1	55624	broad.mit.edu	37	1	46657809	46657809	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:46657809G>T	uc001cpe.2	-	17	1664	c.1500C>A	c.(1498-1500)CAC>CAA	p.H500Q	POMGNT1_uc010olx.1_Missense_Mutation_p.H478Q|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.H357Q|POMGNT1_uc001cpg.2_Missense_Mutation_p.H500Q|POMGNT1_uc001cpf.2_Missense_Mutation_p.H167Q|POMGNT1_uc001cph.1_Missense_Mutation_p.H78Q|POMGNT1_uc001cpi.1_Missense_Mutation_p.H167Q	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	500	Lumenal (Potential).				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGATGCCAAAGTGGTAGGATC	0.483000												
OR6K3	391114	broad.mit.edu	37	1	158687897	158687897	+	Silent	SNP	G	G	A	rs141092289	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:158687897G>A	uc010pip.1	-	1	57	c.57C>T	c.(55-57)AGC>AGT	p.S19S		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					ATTGGTTTCCGCTCTCCATAT	0.393000												
IFI16	3428	broad.mit.edu	37	1	158986419	158986419	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:158986419T>A	uc001ftf.1	+	5	1085	c.478T>A	c.(478-480)TCC>ACC	p.S160T	IFI16_uc001ftg.2_Missense_Mutation_p.S160T|IFI16_uc010pis.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	160					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					AGCCGGCATGTCCACAGCCAT	0.517000												
DHX9	1660	broad.mit.edu	37	1	182847239	182847239	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:182847239G>A	uc001gpr.2	+	20	2445	c.2282G>A	c.(2281-2283)CGG>CAG	p.R761Q	DHX9_uc001gps.2_Missense_Mutation_p.R547Q|DHX9_uc001gpt.2_Missense_Mutation_p.R40Q	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	761	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						CTTGAGCAACGGAAAGGGCGA	0.478000												
ADORA1	134	broad.mit.edu	37	1	203134713	203134713	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:203134713G>A	uc001gze.1	+	4	1099	c.666G>A	c.(664-666)CCG>CCA	p.P222P	FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Silent_p.P222P|ADORA1_uc010pqg.1_Silent_p.P154P|ADORA1_uc009xak.1_Missense_Mutation_p.A148T|ADORA1_uc010pqh.1_Silent_p.P255P	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	222	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCGGCGACCCGCAGAAGTACT	0.577000												
CENPF	1063	broad.mit.edu	37	1	214792522	214792522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:214792522C>T	uc001hkm.2	+	5	706	c.532C>T	c.(532-534)CGA>TGA	p.R178*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	178	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGTTGAAGAACGAAAAAGATT	0.318000												
ENAH	55740	broad.mit.edu	37	1	225707053	225707053	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:225707053C>T	uc001hpc.1	-	5	1102	c.649G>A	c.(649-651)GAG>AAG	p.E217K	ENAH_uc001hpd.1_Missense_Mutation_p.E217K	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	217	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		tcctgccgctccaggcgttcc	0.264000												
RYR2	6262	broad.mit.edu	37	1	237797008	237797008	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:237797008T>C	uc001hyl.1	+	43	6806	c.6686T>C	c.(6685-6687)CTT>CCT	p.L2229P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2229	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGTTGGTCTTGGTAAGTAA	0.244000												
KIAA1217	56243	broad.mit.edu	37	10	24820924	24820924	+	Splice_Site	SNP	T	T	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:24820924T>C	uc001iru.3	+	15	3649	c.3246_splice	c.e15+2	p.K1082_splice	KIAA1217_uc001irs.2_Splice_Site_p.K1002_splice|KIAA1217_uc001irt.3_Splice_Site_p.K1047_splice|KIAA1217_uc010qcy.1_Splice_Site_p.K1046_splice|KIAA1217_uc010qcz.1_Splice_Site_p.K1047_splice|KIAA1217_uc001irw.2_Splice_Site_p.K765_splice|KIAA1217_uc001irz.2_Splice_Site_p.K765_splice|KIAA1217_uc001irx.2_Splice_Site_p.K765_splice|KIAA1217_uc001iry.2_Splice_Site_p.K765_splice	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1						embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						ACCGCTAAGGTCTGATAGGCT	0.527000												
DKK1	22943	broad.mit.edu	37	10	54076175	54076175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:54076175C>A	uc001jjr.2	+	3	681	c.527C>A	c.(526-528)TCA>TAA	p.S176*	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	176					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						ACCTTGTCTTCAAAAATGTAT	0.373000												
ZWINT	11130	broad.mit.edu	37	10	58118611	58118611	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:58118611C>T	uc001jjx.1	-	6	615	c.578G>A	c.(577-579)GGA>GAA	p.G193E	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.G193E|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	193	Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CTTCAGGTTTCCAAGTTTCTG	0.542000												
SLC18A2	6571	broad.mit.edu	37	10	119014801	119014801	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:119014801C>T	uc001ldd.1	+	7	745	c.714C>T	c.(712-714)TTC>TTT	p.F238F	SLC18A2_uc009xyy.1_Silent_p.F35F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	238	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCCCCCCCTTCGGGAGTGTGC	0.592000												
FGFR2	2263	broad.mit.edu	37	10	123244998	123244998	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr10:123244998C>T	uc010qtk.1	-	17	2753	c.2106G>A	c.(2104-2106)TCG>TCA	p.S702S	FGFR2_uc010qtg.1_Silent_p.S590S|FGFR2_uc010qth.1_Silent_p.S587S|FGFR2_uc010qti.1_Silent_p.S613S|FGFR2_uc010qtj.1_Silent_p.S703S|FGFR2_uc010qtl.1_Silent_p.S586S|FGFR2_uc010qtm.1_Silent_p.S585S|FGFR2_uc001lfl.3_Silent_p.S703S|FGFR2_uc001lfm.2_Silent_p.S614S|FGFR2_uc001lfg.3_Silent_p.S310S|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	702	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGGGTAGGGCGAGCCCCCTA	0.512000		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
TRIM5	85363	broad.mit.edu	37	11	5699631	5699631	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:5699631C>T	uc001mbm.1	-	4	804	c.547G>A	c.(547-549)GCA>ACA	p.A183T	TRIM5_uc001mbq.1_Missense_Mutation_p.A183T|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A183T|TRIM5_uc001mbo.2_Missense_Mutation_p.A183T|TRIM5_uc001mbp.2_Missense_Mutation_p.A183T	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	183	Potential.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCAAAATCTGCCAAGACGTTG	0.468000												
CD6	923	broad.mit.edu	37	11	60785482	60785482	+	Missense_Mutation	SNP	T	T	G	rs140201536	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:60785482T>G	uc001nqq.2	+	11	2057	c.1834T>G	c.(1834-1836)TCA>GCA	p.S612A	CD6_uc001nqp.2_Missense_Mutation_p.S612A|CD6_uc001nqr.2_Missense_Mutation_p.S580A|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.S571A	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	612	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						GCCAGCCTTTTCAGGTAAGCT	0.532000												
SF1	7536	broad.mit.edu	37	11	64537512	64537512	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:64537512G>A	uc001obb.1	-	5	780	c.403C>T	c.(403-405)CGT>TGT	p.R135C	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.R109C|SF1_uc001oaz.1_Missense_Mutation_p.R260C|SF1_uc001oba.1_Missense_Mutation_p.R135C|SF1_uc001obc.1_Missense_Mutation_p.R135C|SF1_uc001obd.1_Missense_Mutation_p.R135C|SF1_uc001obe.1_Missense_Mutation_p.R20C|SF1_uc010rno.1_Missense_Mutation_p.R20C	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	135					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						TCACTCACACGTGTTGCTGGA	0.468000												
LTBP3	4054	broad.mit.edu	37	11	65321232	65321232	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:65321232G>A	uc001oej.2	-	3	1073	c.804C>T	c.(802-804)CCC>CCT	p.P268P	LTBP3_uc010roi.1_Silent_p.P151P|LTBP3_uc001oei.2_Silent_p.P268P|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Silent_p.P179P	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	268						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TGGGCGGCCGGGGGTGCGAGG	0.682000												
AIP	9049	broad.mit.edu	37	11	67256814	67256814	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:67256814G>A	uc001olv.2	+	3	481	c.356G>A	c.(355-357)CGG>CAG	p.R119Q		NM_003977	NP_003968	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	119	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0						GAGGGCCAGCGGCACTGCTGC	0.667000									Familial_Isolated_Pituitary_Adenoma_			
FAT3	120114	broad.mit.edu	37	11	92532287	92532287	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:92532287G>T	uc001pdj.3	+	9	6125	c.6108G>T	c.(6106-6108)CAG>CAT	p.Q2036H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2036	Extracellular (Potential).|Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGTCATTCAGACGACTGGAG	0.473000										TCGA Ovarian(4;0.039)		
SLCO1B1	10599	broad.mit.edu	37	12	21377657	21377657	+	Silent	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:21377657A>G	uc001req.3	+	14	1853	c.1749A>G	c.(1747-1749)GGA>GGG	p.G583G		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	583	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTATTACAGGAGGAATTCTAG	0.353000												
ABCD2	225	broad.mit.edu	37	12	40013206	40013206	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:40013206G>A	uc001rmb.2	-	1	638	c.212C>T	c.(211-213)ACC>ATC	p.T71I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	71	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TTCACAAATGGTCTCGGTGCA	0.438000												
LRRK2	120892	broad.mit.edu	37	12	40677750	40677750	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:40677750G>A	uc001rmg.3	+	19	2436	c.2315G>A	c.(2314-2316)CGA>CAA	p.R772Q	LRRK2_uc001rmh.1_Missense_Mutation_p.R394Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	772					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAAGATGTACGAAAAGCGTTG	0.418000												
FAM19A2	338811	broad.mit.edu	37	12	62147502	62147502	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:62147502C>G	uc001sqw.2	-	4	1798	c.285G>C	c.(283-285)TGG>TGC	p.W95C	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.W95C|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	95						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GCATATGGCACCACCATTTCT	0.393000												
PTPRB	5787	broad.mit.edu	37	12	70954515	70954515	+	Silent	SNP	G	G	A	rs111361328		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:70954515G>A	uc001swb.3	-	15	3744	c.3714C>T	c.(3712-3714)TAC>TAT	p.Y1238Y	PTPRB_uc010sto.1_Silent_p.Y1148Y|PTPRB_uc010stp.1_Silent_p.Y1148Y|PTPRB_uc001swc.3_Silent_p.Y1456Y|PTPRB_uc001swa.3_Silent_p.Y1368Y|PTPRB_uc001swd.3_Silent_p.Y1455Y|PTPRB_uc009zrr.1_Silent_p.Y1335Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1238	Fibronectin type-III 14.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCCACAGCACGTACTTCCTTC	0.512000												
C12orf50	160419	broad.mit.edu	37	12	88379767	88379767	+	Missense_Mutation	SNP	G	G	A	rs138726983		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:88379767G>A	uc001tam.1	-	11	1154	c.986C>T	c.(985-987)GCG>GTG	p.A329V	C12orf50_uc001tan.2_Missense_Mutation_p.A344V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	329										skin(2)|ovary(1)	3						TGCATTCTCCGCATTTCGATT	0.463000												
PLXNC1	10154	broad.mit.edu	37	12	94603439	94603439	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr12:94603439A>C	uc001tdc.2	+	5	1762	c.1513A>C	c.(1513-1515)AAG>CAG	p.K505Q		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	505	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TGGAGCAAAAAAGTGCCCTAA	0.383000												
SACS	26278	broad.mit.edu	37	13	23907231	23907231	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr13:23907231A>G	uc001uon.2	-	10	11373	c.10784T>C	c.(10783-10785)CTT>CCT	p.L3595P	SACS_uc001uoo.2_Missense_Mutation_p.L3448P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3595					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGCTGAGAAAGTATGTATTT	0.328000												
NBEA	26960	broad.mit.edu	37	13	36242611	36242611	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr13:36242611G>A	uc001uvb.2	+	57	8911	c.8705G>A	c.(8704-8706)GGA>GAA	p.G2902E	NBEA_uc010abi.2_Missense_Mutation_p.G1560E|NBEA_uc010tef.1_Missense_Mutation_p.G695E|NBEA_uc001uvd.2_Missense_Mutation_p.G480E	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2902	WD 5.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTACCCTGGATGTGATGCT	0.527000												
NALCN	259232	broad.mit.edu	37	13	101712256	101712256	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr13:101712256G>A	uc001vox.1	-	42	5008	c.4819C>T	c.(4819-4821)CGG>TGG	p.R1607W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1607	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCAGAAACCGGCTCAGCTCT	0.532000												
RTN1	6252	broad.mit.edu	37	14	60194151	60194151	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:60194151G>A	uc001xen.1	-	3	1460	c.1251C>T	c.(1249-1251)TCC>TCT	p.S417S	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	417					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGGTCCTCGGACACCAGCT	0.716000												
ACOT1	641371	broad.mit.edu	37	14	74009927	74009927	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:74009927C>T	uc001xol.1	+	3	1032	c.834C>T	c.(832-834)AAC>AAT	p.N278N	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	278					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		TGGGCGTCAACAGAAATCGCA	0.552000												
ESRRB	2103	broad.mit.edu	37	14	76964735	76964735	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:76964735C>T	uc001xsq.1	+	7	1303	c.1236C>T	c.(1234-1236)AGC>AGT	p.S412S	ESRRB_uc001xsr.2_Silent_p.S412S|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	412						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTTCTATAGCGTCAAACTGC	0.627000												
SEL1L	6400	broad.mit.edu	37	14	81972485	81972485	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:81972485T>G	uc010tvv.1	-	4	558	c.441A>C	c.(439-441)GAA>GAC	p.E147D	SEL1L_uc001xvo.3_Missense_Mutation_p.E147D	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	147	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTCTGCCATCTTCCCTCCCAT	0.468000												
AHNAK2	113146	broad.mit.edu	37	14	105416313	105416313	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr14:105416313C>G	uc010axc.1	-	7	5595	c.5475G>C	c.(5473-5475)ATG>ATC	p.M1825I	AHNAK2_uc001ypx.2_Missense_Mutation_p.M1725I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1825						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACTTGGGCATTTTGAACT	0.612000												
SNRPN	6638	broad.mit.edu	37	15	25220656	25220656	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr15:25220656A>C	uc001ywp.1	+	8	1045	c.155A>C	c.(154-156)AAG>ACG	p.K52T	SNRPN_uc001ywq.1_Missense_Mutation_p.K52T|SNRPN_uc001ywr.1_Missense_Mutation_p.K52T|SNRPN_uc001yws.1_Missense_Mutation_p.K52T|SNRPN_uc001ywt.1_Missense_Mutation_p.K52T|SNRPN_uc001ywv.1_Missense_Mutation_p.K55T|SNRPN_uc001yww.1_Missense_Mutation_p.K52T|SNRPN_uc001ywx.1_Missense_Mutation_p.K52T|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	52					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGAAAGATCAAGTAAGGCTGA	0.463000									Prader-Willi_syndrome			
IDH3A	3419	broad.mit.edu	37	15	78461297	78461297	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr15:78461297T>A	uc002bdd.2	+	11	1078	c.1051T>A	c.(1051-1053)TGC>AGC	p.C351S	IDH3A_uc010umt.1_Missense_Mutation_p.C316S|IDH3A_uc010umu.1_Missense_Mutation_p.C242S|IDH3A_uc002bde.2_Missense_Mutation_p.C301S|IDH3A_uc010umv.1_Missense_Mutation_p.C301S|IDH3A_uc002bdf.2_Missense_Mutation_p.C202S|IDH3A_uc002bdg.2_Missense_Mutation_p.C264S	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	351					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CAATGCAAAATGCTCAGACTT	0.368000												
SPSB3	90864	broad.mit.edu	37	16	1828608	1828608	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:1828608G>T	uc002cmr.2	-	2	165	c.132C>A	c.(130-132)AGC>AGA	p.S44R	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.S44R|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.S99R	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	44					intracellular signal transduction						0						AGTCCGAGTCGCTGTGCTGGG	0.662000												
ZNF213	7760	broad.mit.edu	37	16	3190925	3190925	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:3190925C>T	uc010uws.1	+	6	1404	c.957C>T	c.(955-957)TGC>TGT	p.C319C	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.C319C|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	319	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCACAGCTGCGGGCAGTGTG	0.736000												
MMP2	4313	broad.mit.edu	37	16	55513517	55513517	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:55513517C>T	uc002ehz.3	+	1	437	c.126C>T	c.(124-126)GCC>GCT	p.A42A	MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	42					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GCGATGTCGCCCCCAAAACGG	0.642000												
LPCAT2	54947	broad.mit.edu	37	16	55584873	55584873	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:55584873T>A	uc002eie.3	+	11	1255	c.1074T>A	c.(1072-1074)GAT>GAA	p.D358E	LPCAT2_uc002eic.2_Missense_Mutation_p.D88E	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	358	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						TAGATTGGGATGGTGTTCGTA	0.318000												
ANKRD11	29123	broad.mit.edu	37	16	89351692	89351692	+	Missense_Mutation	SNP	C	C	T	rs147180412	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:89351692C>T	uc002fmx.1	-	9	1719	c.1258G>A	c.(1258-1260)GTG>ATG	p.V420M	ANKRD11_uc002fmy.1_Missense_Mutation_p.V420M|ANKRD11_uc002fnc.1_Missense_Mutation_p.V420M|ANKRD11_uc002fnb.1_Missense_Mutation_p.V377M	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	420						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTGTCCCCACGGTGACACTC	0.468000												
ANKRD11	29123	broad.mit.edu	37	16	89357494	89357494	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr16:89357494G>A	uc002fmx.1	-	5	785	c.324C>T	c.(322-324)GGC>GGT	p.G108G	ANKRD11_uc002fmy.1_Silent_p.G108G|ANKRD11_uc002fnc.1_Silent_p.G108G|ANKRD11_uc002fnd.2_Silent_p.G74G|ANKRD11_uc002fne.2_Silent_p.G74G|ANKRD11_uc002fnb.1_Silent_p.G65G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	108						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGAGGGGGTAGCCGGCTCGGA	0.657000												
GP1BA	2811	broad.mit.edu	37	17	4837151	4837151	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:4837151G>A	uc010vsq.1	+	2	1327	c.1252G>A	c.(1252-1254)GCC>ACC	p.A418T	uc002fzn.1_Intron	NM_000173	NP_000164	P07359	GP1BA_HUMAN	platelet glycoprotein Ib alpha polypeptide	431											0						ctcagagcccgcccccagccc	0.254000												
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:7577094G>A	uc002gim.2	-	8	1038	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)		
PYY	5697	broad.mit.edu	37	17	42030487	42030487	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:42030487C>T	uc002ieq.2	-	6	800	c.259G>A	c.(259-261)GTC>ATC	p.V87I	PYY_uc002ier.1_Missense_Mutation_p.V87I	NM_004160	NP_004151	P10082	PYY_HUMAN	peptide YY precursor	87					cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction					0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CGCGACCTGACGGGGCGGTCC	0.632000												
MPO	4353	broad.mit.edu	37	17	56349209	56349209	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr17:56349209T>G	uc002ivu.1	-	11	2014	c.1837A>C	c.(1837-1839)ACT>CCT	p.T613P		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	613					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	TGGCCCACAGTTTCAGGCTGC	0.607000												
LAMA1	284217	broad.mit.edu	37	18	7013889	7013889	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:7013889C>T	uc002knm.2	-	23	3382	c.3288G>A	c.(3286-3288)GGG>GGA	p.G1096G	LAMA1_uc010wzj.1_Silent_p.G572G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1096	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCGACGTCCCCCTCAGGT	0.587000												
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:7231664G>A	uc010wzk.1	+	1	528	c.528G>A	c.(526-528)GCG>GCA	p.A176A		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176	LRR 5.									ovary(1)|liver(1)	2						ACTTCTTCGCGCACATCCCCA	0.552000												
PTPRM	5797	broad.mit.edu	37	18	8394487	8394487	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:8394487C>T	uc002knn.3	+	30	4686	c.4183C>T	c.(4183-4185)CGC>TGC	p.R1395C	PTPRM_uc010dkv.2_Missense_Mutation_p.R1408C|PTPRM_uc010wzl.1_Missense_Mutation_p.R1182C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1395	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CGGGGGAGGCCGCAGTGGGAC	0.522000												
SERPINB8	5271	broad.mit.edu	37	18	61652443	61652443	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr18:61652443C>T	uc002ljv.2	+	6	853	c.684C>T	c.(682-684)GTC>GTT	p.V228V	SERPINB8_uc002ljt.2_Silent_p.V228V|SERPINB8_uc002lju.2_Silent_p.V228V|SERPINB8_uc010xex.1_Silent_p.V46V	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	228					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TGAGCATGGTCATTCTGCTTC	0.488000												
ABCA7	10347	broad.mit.edu	37	19	1052101	1052101	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:1052101C>T	uc002lqw.3	+	22	3354	c.3123C>T	c.(3121-3123)CGC>CGT	p.R1041R	ABCA7_uc010dsb.1_Silent_p.R903R	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1041					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGGCCCGCCTGCCCCTGA	0.672000												
ADAT3	113179	broad.mit.edu	37	19	1912907	1912907	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:1912907C>T	uc002luh.2	+	2	1041	c.813C>T	c.(811-813)GAC>GAT	p.D271D	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	271					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACGCAGACGAGGACGGCC	0.711000												
MKNK2	2872	broad.mit.edu	37	19	2043545	2043545	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:2043545C>A	uc002lus.2	-	6	621	c.376G>T	c.(376-378)GTT>TTT	p.V126F	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Missense_Mutation_p.V126F|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	126	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCTGAAAACCCTGCTCCGA	0.582000												
MUC16	94025	broad.mit.edu	37	19	9056839	9056839	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:9056839A>C	uc002mkp.2	-	3	30811	c.30607T>G	c.(30607-30609)TTC>GTC	p.F10203V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10205	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAAGAGGTGAAATCAGTCTTG	0.468000												
MUC16	94025	broad.mit.edu	37	19	9067293	9067293	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:9067293A>G	uc002mkp.2	-	3	20357	c.20153T>C	c.(20152-20154)ATC>ACC	p.I6718T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6720	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGGCTGGGGATCACTTCAGT	0.488000												
SPTBN4	57731	broad.mit.edu	37	19	41009902	41009902	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:41009902C>T	uc002ony.2	+	12	1614	c.1528C>T	c.(1528-1530)CGT>TGT	p.R510C	SPTBN4_uc002onx.2_Missense_Mutation_p.R510C|SPTBN4_uc002onz.2_Missense_Mutation_p.R510C	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	510	Spectrin 3.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCAGCCCAGCGTGACAGCGT	0.657000												
CYP2A6	1548	broad.mit.edu	37	19	41354143	41354143	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:41354143G>A	uc002opl.3	-	4	656	c.635C>T	c.(634-636)ACG>ATG	p.T212M	CYP2A6_uc010ehe.1_Missense_Mutation_p.T8M|CYP2A6_uc010ehf.1_RNA	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	212					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGAGGTTGACGTGAACTGGAA	0.562000												
LILRB1	10859	broad.mit.edu	37	19	55144127	55144127	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:55144127G>A	uc002qgj.2	+	7	1214	c.874G>A	c.(874-876)GGG>AGG	p.G292R	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.G292R|LILRB1_uc002qgk.2_Missense_Mutation_p.G292R|LILRB1_uc002qgm.2_Missense_Mutation_p.G292R|LILRB1_uc010erq.2_Missense_Mutation_p.G292R|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	292	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CCGCTCCTACGGGGGCCAGTA	0.667000										HNSCC(37;0.09)		
ZNF329	79673	broad.mit.edu	37	19	58639529	58639529	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr19:58639529T>C	uc002qrn.2	-	4	1579	c.1342A>G	c.(1342-1344)ACT>GCT	p.T448A	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	448	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCAGTATGAGTCCTCTGGTGC	0.502000												
BIRC6	57448	broad.mit.edu	37	2	32703759	32703759	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:32703759G>A	uc010ezu.2	+	36	7259	c.7125G>A	c.(7123-7125)GTG>GTA	p.V2375V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2375					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTGAGATTGTGAACGAACCCC	0.403000												
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:39095333C>T	uc002rrf.2	-	2	314	c.215G>A	c.(214-216)CGC>CAC	p.R72H	DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R72H	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.338000												
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:40366764G>A	uc002rrx.2	-	9	2346	c.2322C>T	c.(2320-2322)TTC>TTT	p.F774F	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.F769F|SLC8A1_uc002rrz.2_Silent_p.F761F|SLC8A1_uc002rsa.2_Silent_p.F738F|SLC8A1_uc002rsd.3_Silent_p.F738F	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	774	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502000												
LRPPRC	10128	broad.mit.edu	37	2	44175646	44175646	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:44175646A>G	uc002rtr.2	-	17	1805	c.1747T>C	c.(1747-1749)TAT>CAT	p.Y583H	LRPPRC_uc010yob.1_Missense_Mutation_p.Y483H	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	583				Y -> N (in Ref. 5; AAA67549).	mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAAGAAAATAGCCAACAGCT	0.378000												
RPS27A	6233	broad.mit.edu	37	2	55462594	55462594	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:55462594C>T	uc010yow.1	+	6	549	c.352C>T	c.(352-354)CGT>TGT	p.R118C	C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Missense_Mutation_p.R118C|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	NM_001135592	NP_001129064	P62979	RS27A_HUMAN	ubiquitin and ribosomal protein S27a precursor	118					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			ovary(1)	1						TAGTCGCCTTCGTCGAGAGTG	0.398000												
CNNM4	26504	broad.mit.edu	37	2	97463383	97463383	+	Silent	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:97463383A>G	uc002swx.2	+	3	1778	c.1680A>G	c.(1678-1680)ACA>ACG	p.T560T	CNNM4_uc010yuy.1_Silent_p.T47T|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	560					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TCCTAGCCACAGGTAGCATGA	0.577000												
C2orf55	343990	broad.mit.edu	37	2	99439439	99439439	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:99439439G>A	uc002szf.1	-	7	1591	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	433	Pro-rich.										0						GGGACACTGCGTTCTGGCCCG	0.726000												
POU3F3	5455	broad.mit.edu	37	2	105473289	105473289	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:105473289G>A	uc010ywg.1	+	1	1321	c.1321G>A	c.(1321-1323)GAC>AAC	p.D441N		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	441	Homeobox.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						CAACCTGGCCGACAGCCTGCA	0.642000												
TMEM177	80775	broad.mit.edu	37	2	120439335	120439335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:120439335G>A	uc010flg.1	+	2	1379	c.906G>A	c.(904-906)TGG>TGA	p.W302*	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Nonsense_Mutation_p.W302*|TMEM177_uc002tmd.2_Nonsense_Mutation_p.W302*|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	302						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					TGCAGATGTGGAGGGGGATGC	0.572000												
USP37	57695	broad.mit.edu	37	2	219319687	219319687	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:219319687G>A	uc002vie.2	-	26	3359	c.2906C>T	c.(2905-2907)ACG>ATG	p.T969M	USP37_uc010fvs.1_Missense_Mutation_p.T969M|USP37_uc010zkf.1_Missense_Mutation_p.T969M|USP37_uc002vif.2_Missense_Mutation_p.T969M|USP37_uc002vig.2_Missense_Mutation_p.T875M	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	969					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCCCACTTCCGTGCTAAGTGA	0.448000												
COL6A3	1293	broad.mit.edu	37	2	238280829	238280829	+	Silent	SNP	G	G	A	rs114110705	by1000genomes	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr2:238280829G>A	uc002vwl.2	-	9	4116	c.3831C>T	c.(3829-3831)AGC>AGT	p.S1277S	COL6A3_uc002vwo.2_Silent_p.S1071S|COL6A3_uc010znj.1_Silent_p.S670S|COL6A3_uc002vwq.2_Silent_p.S1071S|COL6A3_uc002vwr.2_Silent_p.S870S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1277	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGGGTCATCGCTGAACTGGA	0.612000												
CPXM1	56265	broad.mit.edu	37	20	2775009	2775009	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:2775009A>G	uc002wgu.2	-	14	2096	c.2032T>C	c.(2032-2034)TAC>CAC	p.Y678H	CPXM1_uc010gas.2_Missense_Mutation_p.Y604H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	678					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						ACTGAATGGTAGCCCTCGGCA	0.602000												
XRN2	22803	broad.mit.edu	37	20	21321389	21321389	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:21321389A>C	uc002wsf.1	+	15	1404	c.1309A>C	c.(1309-1311)ATA>CTA	p.I437L	XRN2_uc002wsg.1_Missense_Mutation_p.I361L|XRN2_uc010zsk.1_Missense_Mutation_p.I383L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	437					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						TCCTAGTGGAATATTAACTCC	0.378000												
DSN1	79980	broad.mit.edu	37	20	35399407	35399407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:35399407G>T	uc010gfr.2	-	3	597	c.224C>A	c.(223-225)TCG>TAG	p.S75*	DSN1_uc002xfz.2_Nonsense_Mutation_p.S75*|DSN1_uc002xfy.3_Intron|DSN1_uc002xga.2_Nonsense_Mutation_p.S75*|DSN1_uc010zvs.1_Intron|DSN1_uc002xgc.2_Nonsense_Mutation_p.S59*|DSN1_uc002xgb.2_Nonsense_Mutation_p.S59*	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN	DSN1, MIND kinetochore complex component,	75					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00874)				AAGGGACTTCGACTGAAGTCT	0.483000												
KCNB1	3745	broad.mit.edu	37	20	48098751	48098751	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:48098751C>T	uc002xur.1	-	1	431	c.267G>A	c.(265-267)CCG>CCA	p.P89P	KCNB1_uc002xus.1_Silent_p.P89P	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	89	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAAGGCGCCCGGGTGGCGGT	0.612000												
APCDD1L	164284	broad.mit.edu	37	20	57042265	57042265	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:57042265G>C	uc002xze.1	-	3	824	c.638C>G	c.(637-639)CCC>CGC	p.P213R	APCDD1L_uc010zzp.1_Missense_Mutation_p.P224R	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	213						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CACCAGCCGGGGCGACGCCCG	0.751000												
DIDO1	11083	broad.mit.edu	37	20	61537350	61537350	+	Missense_Mutation	SNP	C	C	T	rs115842710	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:61537350C>T	uc002ydr.1	-	6	1741	c.1477G>A	c.(1477-1479)GGG>AGG	p.G493R	DIDO1_uc002yds.1_Missense_Mutation_p.G493R|DIDO1_uc002ydt.1_Missense_Mutation_p.G493R|DIDO1_uc002ydu.1_Missense_Mutation_p.G493R|DIDO1_uc002ydv.1_Missense_Mutation_p.G493R|DIDO1_uc002ydw.1_Missense_Mutation_p.G493R|DIDO1_uc002ydx.1_Missense_Mutation_p.G493R|DIDO1_uc011aao.1_Missense_Mutation_p.G493R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	493					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCTTCCTTCCCGAGTGCTTCA	0.527000												
CHRNA4	1137	broad.mit.edu	37	20	61981969	61981969	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr20:61981969A>G	uc002yes.2	-	5	972	c.794T>C	c.(793-795)TTC>TCC	p.F265S	CHRNA4_uc002yet.1_Missense_Mutation_p.F89S|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.F194S|CHRNA4_uc002yev.1_Missense_Mutation_p.F89S|CHRNA4_uc010gkf.1_Missense_Mutation_p.F89S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	265	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGCAGGTAGAAGACCAGCAC	0.597000												
TIAM1	7074	broad.mit.edu	37	21	32493030	32493030	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr21:32493030C>T	uc002yow.1	-	29	4904	c.4432G>A	c.(4432-4434)GGG>AGG	p.G1478R	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.G1418R	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1478					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCAGTGTCCCCACCACCGGGG	0.562000												
STAC	6769	broad.mit.edu	37	3	36422159	36422159	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr3:36422159C>T	uc003cgh.1	+	1	63	c.24C>T	c.(22-24)CGC>CGT	p.R8R	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Silent_p.R8R	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	8					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						GCAGCCCCCGCGAGGACGGCG	0.726000												
UBA7	7318	broad.mit.edu	37	3	49848017	49848017	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr3:49848017A>G	uc003cxr.2	-	12	1571	c.1400T>C	c.(1399-1401)GTT>GCT	p.V467A		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	467	1-2.|2 approximate repeats.|ATP (By similarity).				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTCCATGTCAACAACAGTCAA	0.592000												
PCOLCE2	26577	broad.mit.edu	37	3	142567084	142567084	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr3:142567084G>T	uc003evd.2	-	3	619	c.423C>A	c.(421-423)TTC>TTA	p.F141L		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	141	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CAGCAGCGGAGAACATGGCCA	0.468000												
N4BP2	55728	broad.mit.edu	37	4	40127824	40127824	+	Silent	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:40127824A>G	uc003guy.3	+	12	4739	c.4401A>G	c.(4399-4401)AAA>AAG	p.K1467K	N4BP2_uc010ifq.2_Silent_p.K1387K|N4BP2_uc010ifr.2_Silent_p.K1387K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1467						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CAGGCAAAAAATTACTGAAGA	0.338000												
SEC24B	10427	broad.mit.edu	37	4	110415869	110415869	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:110415869G>A	uc003hzk.2	+	6	1400	c.1345G>A	c.(1345-1347)GTC>ATC	p.V449I	SEC24B_uc003hzl.2_Missense_Mutation_p.V414I|SEC24B_uc011cfp.1_Missense_Mutation_p.V480I|SEC24B_uc011cfq.1_Missense_Mutation_p.V449I|SEC24B_uc011cfr.1_Missense_Mutation_p.V414I	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	449					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTCCTGTCGTCCCTCAGCC	0.507000												
ANK2	287	broad.mit.edu	37	4	114251533	114251533	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:114251533G>A	uc003ibe.3	+	27	3132	c.3032G>A	c.(3031-3033)CGC>CAC	p.R1011H	ANK2_uc003ibd.3_Missense_Mutation_p.R1002H|ANK2_uc003ibf.3_Missense_Mutation_p.R1011H|ANK2_uc011cgc.1_Missense_Mutation_p.R220H|ANK2_uc003ibg.3_Missense_Mutation_p.R39H|ANK2_uc003ibc.2_Missense_Mutation_p.R987H|ANK2_uc011cgb.1_Missense_Mutation_p.R1026H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1011	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGGTCAAGCGCCACAGACTG	0.562000												
DCHS2	54798	broad.mit.edu	37	4	155241936	155241936	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:155241936C>T	uc003inw.2	-	14	3250	c.3250G>A	c.(3250-3252)GGC>AGC	p.G1084S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1084	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAAAACTGCCGTCATCATCT	0.448000												
ANKH	56172	broad.mit.edu	37	5	14713753	14713753	+	Missense_Mutation	SNP	C	C	T	rs28939080		TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:14713753C>T	uc003jfm.3	-	10	1496	c.1165G>A	c.(1165-1167)GGG>AGG	p.G389R	ANKH_uc003jfl.3_Missense_Mutation_p.G102R	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	389	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						ATCAGCCACCCGGTGAGATGC	0.627000												
CDH18	1016	broad.mit.edu	37	5	19838948	19838948	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:19838948G>A	uc003jgc.2	-	2	525	c.148C>T	c.(148-150)CGT>TGT	p.R50C	CDH18_uc003jgd.2_Missense_Mutation_p.R50C|CDH18_uc011cnm.1_Missense_Mutation_p.R50C	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTTTGGGACGATGATGGACT	0.418000												
HCN1	348980	broad.mit.edu	37	5	45396782	45396782	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:45396782C>T	uc003jok.2	-	4	1067	c.1042G>A	c.(1042-1044)GCA>ACA	p.A348T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	348						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTGAAGAGTGCGTATGAATAC	0.448000												
IQGAP2	10788	broad.mit.edu	37	5	75993866	75993866	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:75993866C>T	uc003kek.2	+	33	4483	c.4261C>T	c.(4261-4263)CTT>TTT	p.L1421F	IQGAP2_uc011csv.1_Missense_Mutation_p.L917F|IQGAP2_uc003kel.2_Missense_Mutation_p.L917F|IQGAP2_uc010izw.1_Missense_Mutation_p.L122F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1421					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATTGGCAAAACTTCAGCAGAC	0.338000												
ODZ2	57451	broad.mit.edu	37	5	167689445	167689445	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:167689445C>A	uc010jjd.2	+	29	7928	c.7928C>A	c.(7927-7929)TCC>TAC	p.S2643Y	ODZ2_uc003lzr.3_Missense_Mutation_p.S2413Y|ODZ2_uc003lzt.3_Missense_Mutation_p.S2016Y|ODZ2_uc010jje.2_Missense_Mutation_p.S1907Y	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTGACCGTGTCCCAGCCCACG	0.602000												
ADAMTS2	9509	broad.mit.edu	37	5	178552039	178552039	+	Missense_Mutation	SNP	C	C	T	rs144138766	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr5:178552039C>T	uc003mjw.2	-	19	2893	c.2893G>A	c.(2893-2895)GAG>AAG	p.E965K		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	965	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGCGGCTCTCGGGCCGGGCG	0.701000												
BAT4	7918	broad.mit.edu	37	6	31631743	31631743	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:31631743C>T	uc003nvn.2	-	2	1158	c.513G>A	c.(511-513)GGG>GGA	p.G171G	BAT4_uc003nvo.3_Silent_p.G171G|BAT4_uc003nvp.3_Silent_p.G171G|BAT4_uc003nvq.2_Silent_p.G171G|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	171	ANK 2.					intracellular	nucleic acid binding				0						GCTCACAGACCCCCACCCAGG	0.657000												
PKHD1	5314	broad.mit.edu	37	6	51619732	51619732	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:51619732T>C	uc003pah.1	-	56	8923	c.8647A>G	c.(8647-8649)ATA>GTA	p.I2883V	PKHD1_uc010jzn.1_Missense_Mutation_p.I866V|PKHD1_uc003pai.2_Missense_Mutation_p.I2883V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2883	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTTCTACTATAATTCTGTAA	0.423000												
CD109	135228	broad.mit.edu	37	6	74446106	74446106	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:74446106G>T	uc003php.2	+	5	933	c.508G>T	c.(508-510)GAC>TAC	p.D170Y	CD109_uc010kaz.2_Missense_Mutation_p.D170Y|CD109_uc003phq.2_Missense_Mutation_p.D170Y|CD109_uc010kba.2_Missense_Mutation_p.D93Y	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	170						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						TTCATTTTAGGACCCCAAATC	0.423000												
CD109	135228	broad.mit.edu	37	6	74446205	74446205	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:74446205G>A	uc003php.2	+	5	1032	c.607G>A	c.(607-609)GAC>AAC	p.D203N	CD109_uc010kaz.2_Missense_Mutation_p.D203N|CD109_uc003phq.2_Missense_Mutation_p.D203N|CD109_uc010kba.2_Missense_Mutation_p.D126N	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	203						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AATACTTGGTGACTGGTCTAT	0.378000												
CD109	135228	broad.mit.edu	37	6	74446228	74446228	+	Silent	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:74446228G>T	uc003php.2	+	5	1055	c.630G>T	c.(628-630)GTG>GTT	p.V210V	CD109_uc010kaz.2_Silent_p.V210V|CD109_uc003phq.2_Silent_p.V210V|CD109_uc010kba.2_Silent_p.V133V	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	210						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AAGTTCAAGTGAATGTGAGTA	0.353000												
GRM1	2911	broad.mit.edu	37	6	146720426	146720426	+	Silent	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:146720426C>T	uc010khw.1	+	8	2721	c.2251C>T	c.(2251-2253)CTG>TTG	p.L751L	GRM1_uc010khv.1_Silent_p.L751L|GRM1_uc003qll.2_Silent_p.L751L|GRM1_uc011edz.1_Silent_p.L751L|GRM1_uc011eea.1_Silent_p.L751L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	751	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TACCAGCAACCTGGGTGTGGT	0.527000												
PPIL4	85313	broad.mit.edu	37	6	149862660	149862660	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:149862660C>G	uc003qmo.1	-	2	163	c.133G>C	c.(133-135)GTA>CTA	p.V45L	PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.V45L	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	45	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTCACCTGTACATTGTGAATA	0.303000												
T	6862	broad.mit.edu	37	6	166580185	166580185	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr6:166580185G>A	uc003quu.1	-	3	859	c.366C>T	c.(364-366)TGC>TGT	p.C122C	T_uc003qut.1_Silent_p.C122C|T_uc003quv.1_Silent_p.C122C	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	122	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652000									Chordoma_Familial_Clustering_of			
SDK1	221935	broad.mit.edu	37	7	4272903	4272903	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:4272903C>A	uc003smx.2	+	41	5983	c.5844C>A	c.(5842-5844)GAC>GAA	p.D1948E	SDK1_uc010kso.2_Missense_Mutation_p.D1204E|SDK1_uc003smy.2_Missense_Mutation_p.D435E|SDK1_uc003smz.2_Missense_Mutation_p.D8E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1948	Fibronectin type-III 13.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTTATGGGACATGTTTGTGA	0.592000												
HOXA6	3203	broad.mit.edu	37	7	27185407	27185407	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:27185407G>A	uc003syo.1	-	2	572	c.572C>T	c.(571-573)GCG>GTG	p.A191V	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	191	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GAGGCAGAGCGCGTTGGCGAT	0.602000												
HOXA7	3204	broad.mit.edu	37	7	27194773	27194773	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:27194773G>A	uc003sys.2	-	2	580	c.448C>T	c.(448-450)CAC>TAC	p.H150Y	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	150	Homeobox.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0						CGGTTGAAGTGGAACTCCTTC	0.602000												
ABCA13	154664	broad.mit.edu	37	7	48259063	48259063	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:48259063A>G	uc003toq.2	+	4	425	c.400A>G	c.(400-402)AAC>GAC	p.N134D	ABCA13_uc003top.2_Missense_Mutation_p.N134D|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	134					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAAGGCAAAAAACTTAAAAAG	0.438000												
GTF2IRD1	9569	broad.mit.edu	37	7	73922447	73922447	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:73922447A>G	uc003uaq.2	+	2	430	c.37A>G	c.(37-39)AAC>GAC	p.N13D	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.N13D|GTF2IRD1_uc003uap.2_Missense_Mutation_p.N13D|GTF2IRD1_uc003uar.1_Missense_Mutation_p.N13D	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	13						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CGTCCCCACCAACGGCTGCGG	0.632000												
LRWD1	222229	broad.mit.edu	37	7	102109363	102109363	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:102109363G>A	uc003uzn.2	+	9	1220	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H	LRWD1_uc003uzo.2_Missense_Mutation_p.R209H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	361					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						CACAAGAAGCGCTGGAGTGTG	0.652000												
KCNH2	3757	broad.mit.edu	37	7	150648900	150648900	+	Silent	SNP	C	C	T	rs150275982	byFrequency	TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr7:150648900C>T	uc003wic.2	-	7	1594	c.1581G>A	c.(1579-1581)GCG>GCA	p.A527A	KCNH2_uc003wib.2_Silent_p.A187A|KCNH2_uc011kux.1_Silent_p.A431A|KCNH2_uc003wid.2_Silent_p.A187A|KCNH2_uc003wie.2_Silent_p.A527A	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	527	Helical; Voltage-sensor; Name=Segment S4; (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCAGCAGCCGCGCAGTCTTCA	0.667000												
MMP16	4325	broad.mit.edu	37	8	89209481	89209481	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr8:89209481G>T	uc003yeb.3	-	2	469	c.187C>A	c.(187-189)CTG>ATG	p.L63M	MMP16_uc003yec.2_Missense_Mutation_p.L63M	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	63					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GCAGAGCGCAGCACTGACATT	0.433000												
EFR3A	23167	broad.mit.edu	37	8	133014047	133014047	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr8:133014047A>T	uc003yte.2	+	20	2400	c.2199A>T	c.(2197-2199)AAA>AAT	p.K733N		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	733						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CATTGAAGAAAGCAATTGGTG	0.328000												
TG	7038	broad.mit.edu	37	8	133885383	133885383	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr8:133885383G>A	uc003ytw.2	+	5	596	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	185	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGTTCTGCGGAGGGAGAGT	0.468000												
CBWD1	55871	broad.mit.edu	37	9	178910	178910	+	Silent	SNP	A	A	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:178910A>T	uc003zga.3	-	1	166	c.60T>A	c.(58-60)CCT>CCA	p.P20P	CBWD1_uc003zgb.3_5'UTR|CBWD1_uc003zgc.3_Silent_p.P20P|CBWD1_uc011llr.1_5'UTR|CBWD1_uc003zgd.2_Silent_p.P20P	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1 isoform 1	20							ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAACCAATTCAGGACAATCCT	0.557000												
ERMP1	79956	broad.mit.edu	37	9	5797844	5797844	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:5797844A>C	uc003zjm.1	-	13	2413	c.2359T>G	c.(2359-2361)TCT>GCT	p.S787A	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.S401A	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	787	Extracellular (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATTTTATAGAATCCCAAGGT	0.353000												
DENND4C	55667	broad.mit.edu	37	9	19346918	19346918	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:19346918A>T	uc003znq.2	+	18	3329	c.3296A>T	c.(3295-3297)CAT>CTT	p.H1099L	DENND4C_uc011lnc.1_Missense_Mutation_p.H429L|DENND4C_uc011lnd.1_Missense_Mutation_p.H387L|DENND4C_uc003znr.2_Missense_Mutation_p.H387L|DENND4C_uc003zns.2_Missense_Mutation_p.H281L|DENND4C_uc003znt.2_Missense_Mutation_p.H281L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1099						integral to membrane				ovary(1)|skin(1)	2						TCTTCGCCACATGGCTCGTTG	0.443000												
KIAA1797	54914	broad.mit.edu	37	9	20923662	20923662	+	Silent	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:20923662G>A	uc003zog.1	+	27	3219	c.2856G>A	c.(2854-2856)GAG>GAA	p.E952E	KIAA1797_uc003zoh.1_Silent_p.E388E	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	952						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TGAACAGGGAGAGTCCGGTAG	0.463000												
GLIPR2	152007	broad.mit.edu	37	9	36150911	36150911	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:36150911A>G	uc003zyz.2	+	4	303	c.269A>G	c.(268-270)TAT>TGT	p.Y90C	GLIPR2_uc011lpj.1_Missense_Mutation_p.Y90C|GLIPR2_uc010mlf.1_Missense_Mutation_p.Y90C|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	90				IKNY -> VHFM (in Ref. 5; AAH17918).		extracellular region|Golgi membrane				skin(3)|central_nervous_system(1)	4						ATCAAGAACTATAACTTCCAG	0.522000												
CEP110	11064	broad.mit.edu	37	9	123935999	123935999	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr9:123935999G>A	uc004bkx.1	+	40	6762	c.6731G>A	c.(6730-6732)CGG>CAG	p.R2244Q	CEP110_uc004blb.1_Missense_Mutation_p.R913Q|CEP110_uc010mvp.1_Missense_Mutation_p.R194Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	2244	Sufficient for interaction with HOOK2.|Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						CTGCGTCACCGGGAAGACCGA	0.463000												
KDM6A	7403	broad.mit.edu	37	X	44733193	44733193	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:44733193T>C	uc004dge.3	+	2	560	c.185T>C	c.(184-186)TTT>TCT	p.F62S	KDM6A_uc010nhk.2_Missense_Mutation_p.F62S|KDM6A_uc011mkz.1_Missense_Mutation_p.F62S|KDM6A_uc011mla.1_Missense_Mutation_p.F62S|KDM6A_uc011mlb.1_Missense_Mutation_p.F62S|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	62					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(8)|p.0?(6)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TTCGTGAGATTTCATGAAGAT	0.567000			D|N|F|S		renal|oesophageal SCC|MM							
NGFRAP1	27018	broad.mit.edu	37	X	102632528	102632528	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:102632528C>T	uc004eki.2	+	3	491	c.109C>T	c.(109-111)CGG>TGG	p.R37W	NGFRAP1_uc004ekh.2_Missense_Mutation_p.R27W|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R37W	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	37					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						AGGAAATCGACGGGGACAGGC	0.522000												
DCAF12L1	139170	broad.mit.edu	37	X	125686062	125686062	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:125686062T>A	uc004eul.2	-	1	781	c.530A>T	c.(529-531)TAC>TTC	p.Y177F		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	177	WD 1.									skin(3)|ovary(1)	4						GGGCAGCTGGTAGATGGCCAG	0.657000												
GPR101	83550	broad.mit.edu	37	X	136113307	136113307	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:136113307T>C	uc011mwh.1	-	1	527	c.527A>G	c.(526-528)GAT>GGT	p.D176G		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	176	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					ATTGCGCTCATCAAAGGCAGC	0.577000												
MTMR1	8776	broad.mit.edu	37	X	149905164	149905164	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chrX:149905164G>A	uc004fei.2	+	10	1289	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	MTMR1_uc011mya.1_Missense_Mutation_p.R291H|MTMR1_uc004feh.1_Missense_Mutation_p.R393H|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	385	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCACTACGCAAATTAAAA	0.453000												
C1orf56	54964	broad.mit.edu	37	1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:151021328_151021331delAGTA	uc001ewn.2	+	1	1070	c.1005_splice	c.e1+1	p.P335_splice		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor							extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C1orf56	54964	broad.mit.edu	37	1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:151021328_151021331delAGTA	uc001ewn.2	+	1	1070	c.1005_splice	c.e1+1	p.P335_splice		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor							extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MACF1	23499	broad.mit.edu	37	1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391												
MND1	84057	broad.mit.edu	37	4	154315457	154315457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr4:154315456_154315456AT>A	uc003ink.2	+	4	408	c.319_319AT>A	c.(319-321)attfs	p.I107fs	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Frame_Shift_Del_p.I107fs	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	107					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					ACAGAAAAGCATTGAGAAAGC	0.348												
OR8B3	390271	broad.mit.edu	37	11	124266426	124266428	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FP-A4BF-01A-12D-A24D-08	TCGA-FP-A4BF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e806a8c8-b396-481c-a75c-307f0681019a	8868a8d7-86af-4602-9d9f-4c06dc473b51	g.chr11:124266425_124266427CAGA>C	uc010saj.2	-	0	821_823	c.821_823TCTG>G	c.(820-825)tctgtt>tGtt	p.274_275SV>C	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTGTAGAAAACAGAAGAAACTTT	0.399