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
ARID1A	8289	broad.mit.edu	37	1	27059176	27059176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr1:27059176C>T	uc001bmv.1	+	4	2186	c.1813C>T	c.(1813-1815)CAA>TAA	p.Q605*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q605*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q605*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q222*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	605					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGCTATCTCAAGATTCATT	0.483000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
VAV3	10451	broad.mit.edu	37	1	108247235	108247235	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr1:108247235C>T	uc001dvk.1	-	17	1696	c.1642G>A	c.(1642-1644)GGA>AGA	p.G548R	VAV3_uc010ouw.1_Missense_Mutation_p.G548R|VAV3_uc001dvl.1_Missense_Mutation_p.G372R|VAV3_uc010oux.1_Missense_Mutation_p.G548R	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	548	Phorbol-ester/DAG-type.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTCTCGCTCCACACTTAAAA	0.353000												
OR2T27	403239	broad.mit.edu	37	1	248813773	248813773	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr1:248813773C>T	uc010pzo.1	-	1	413	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGATCTTGCGGCTCATGAG	0.557000												
ADARB2	105	broad.mit.edu	37	10	1230815	1230815	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr10:1230815G>A	uc009xhq.2	-	9	2403	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W	ADARB2_uc009xhp.2_Missense_Mutation_p.R61W|ADARB2_uc001igl.3_Missense_Mutation_p.R39W|ADARB2_uc001igm.3_Missense_Mutation_p.R186W	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	677	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCATACAGCCGCGCCCACCGT	0.662000												
OR56B4	196335	broad.mit.edu	37	11	6129249	6129249	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:6129249A>T	uc010qzx.1	+	1	241	c.241A>T	c.(241-243)ACC>TCC	p.T81S		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	81	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCTGGCCACCACCATCAT	0.493000												
NLRP14	338323	broad.mit.edu	37	11	7064427	7064427	+	Silent	SNP	A	A	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:7064427A>T	uc001mfb.1	+	4	1493	c.1170A>T	c.(1168-1170)ACA>ACT	p.T390T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	390	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGATGTCACATTGACCTGCC	0.498000												
KBTBD4	55709	broad.mit.edu	37	11	47595060	47595060	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:47595060G>A	uc001nfx.2	-	4	1150	c.979C>T	c.(979-981)CCC>TCC	p.P327S	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.P352S|KBTBD4_uc001nfz.2_Missense_Mutation_p.P343S|KBTBD4_uc001nfy.2_Missense_Mutation_p.P327S	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	327	Kelch 2.									ovary(1)|central_nervous_system(1)	2						TCTTTCCCGGGCACAGACACC	0.547000												
SLC22A8	9376	broad.mit.edu	37	11	62763206	62763206	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr11:62763206C>T	uc001nwo.2	-	7	1107	c.971G>A	c.(970-972)CGC>CAC	p.R324H	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.R324H|SLC22A8_uc009yom.2_Missense_Mutation_p.R201H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R233H|SLC22A8_uc009yon.2_Missense_Mutation_p.R324H	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	324	Cytoplasmic (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						GGTCATGCGGCGCAGCATGGG	0.592000												
PYROXD1	79912	broad.mit.edu	37	12	21593302	21593302	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:21593302T>G	uc001rew.2	+	2	212	c.85T>G	c.(85-87)TTG>GTG	p.L29V	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	29							oxidoreductase activity			ovary(1)	1						TAAAAATAAGTTGGCTACTCA	0.299000												
AVIL	10677	broad.mit.edu	37	12	58193602	58193602	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:58193602C>G	uc001sqj.1	-	18	2351	c.2322G>C	c.(2320-2322)GAG>GAC	p.E774D	AVIL_uc009zqe.1_Missense_Mutation_p.E767D	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	774	Headpiece (By similarity).|HP.				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGTTTACATCCTCAGGCAGCT	0.443000												
NOS1	4842	broad.mit.edu	37	12	117768788	117768788	+	Silent	SNP	T	T	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:117768788T>A	uc001twm.1	-	2	773	c.87A>T	c.(85-87)GGA>GGT	p.G29G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	29	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACCAGAAATCCCAGGCCCC	0.562000												
CABP1	9478	broad.mit.edu	37	12	121098064	121098064	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr12:121098064G>T	uc001tyu.2	+	3	818	c.751G>T	c.(751-753)GGC>TGC	p.G251C	CABP1_uc001tyv.2_Missense_Mutation_p.G108C|CABP1_uc001tyw.2_Missense_Mutation_p.G48C|CABP1_uc001tyx.2_Missense_Mutation_p.G93C	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	251	EF-hand 1.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGGATCTGGGCAACTGCAT	0.567000												
ERCC5	2073	broad.mit.edu	37	13	103515071	103515071	+	Silent	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr13:103515071G>A	uc001vpw.2	+	8	2015	c.1572G>A	c.(1570-1572)CCG>CCA	p.P524P	ERCC5_uc001vpu.1_Silent_p.P978P|ERCC5_uc010tjb.1_Silent_p.P524P|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Silent_p.P356P	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	524					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACTGACACCGGCATCTCCAA	0.463000			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
SPG11	80208	broad.mit.edu	37	15	44867122	44867122	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr15:44867122A>G	uc001ztx.2	-	31	6015	c.5984T>C	c.(5983-5985)CTC>CCC	p.L1995P	SPG11_uc010bdw.2_Intron|SPG11_uc010ueh.1_Intron|SPG11_uc010uei.1_Missense_Mutation_p.L1995P|SPG11_uc001zty.1_Missense_Mutation_p.L724P	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1995	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATACAGACAGAGGACCTGTCG	0.488000												
MYEF2	50804	broad.mit.edu	37	15	48460981	48460981	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr15:48460981C>T	uc001zwi.3	-	2	341	c.217G>A	c.(217-219)GGA>AGA	p.G73R	MYEF2_uc001zwj.3_Missense_Mutation_p.G73R|MYEF2_uc001zwl.2_5'UTR	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	73					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCTTACTTCCTGTAGATTTT	0.363000												
CHRNA3	1136	broad.mit.edu	37	15	78909415	78909416	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr15:78909415_78909416GC>CT	uc002bec.2	-	4	513_514	c.327_328GC>AG	c.(325-330)ATGCGT>ATAGGT	p.109_110MR>IG	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.109_110MR>IG	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	109_110	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						GCAGGGACACGCATGAACTCTG	0.559000												
SCNN1G	6340	broad.mit.edu	37	16	23197794	23197794	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr16:23197794C>G	uc002dlm.1	+	2	341	c.202C>G	c.(202-204)CTC>GTC	p.L68V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	68	Helical; (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCCTCATCCTCTGGCAGTG	0.592000												
DSC2	1824	broad.mit.edu	37	18	28671077	28671077	+	Silent	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr18:28671077G>A	uc002kwl.3	-	4	842	c.388C>T	c.(388-390)CTA>TTA	p.L130L	DSC2_uc002kwk.3_Silent_p.L130L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	130					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCGCGCCTTAGAACTTTTTCT	0.363000												
TMPRSS9	360200	broad.mit.edu	37	19	2389803	2389803	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:2389803A>G	uc010xgx.1	+	1	20	c.20A>G	c.(19-21)GAC>GGC	p.D7G	TMPRSS9_uc002lvv.1_Missense_Mutation_p.D7G	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	7	Cytoplasmic (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		ACTGTGGCTGACGTACACCTC	0.622000												
PTPRS	5802	broad.mit.edu	37	19	5258067	5258067	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:5258067C>T	uc002mbv.2	-	8	901	c.667G>A	c.(667-669)GGC>AGC	p.G223S	PTPRS_uc002mbu.1_Missense_Mutation_p.G214S|PTPRS_uc010xin.1_Missense_Mutation_p.G214S|PTPRS_uc002mbw.2_Missense_Mutation_p.G214S|PTPRS_uc002mbx.2_Missense_Mutation_p.G214S|PTPRS_uc002mby.2_Missense_Mutation_p.G214S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	223	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TAGCGCACGCCGGCGCTGTTG	0.617000												
SLC5A5	6528	broad.mit.edu	37	19	18001723	18001723	+	Silent	SNP	G	G	A	rs149937279		TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:18001723G>A	uc002nhr.3	+	14	2027	c.1680G>A	c.(1678-1680)CCG>CCA	p.P560P		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	560	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CCCTGGCCCCGGGATTGTTGT	0.602000												
ZNF461	92283	broad.mit.edu	37	19	37130636	37130636	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:37130636T>A	uc002oem.2	-	6	839	c.611A>T	c.(610-612)CAT>CTT	p.H204L	ZNF461_uc002oen.2_Missense_Mutation_p.H173L|ZNF461_uc010xtj.1_Missense_Mutation_p.H181L	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	204	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAAAATAAATGGTAACTGAA	0.299000												
CCDC114	93233	broad.mit.edu	37	19	48806042	48806042	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:48806042C>A	uc002pir.2	-	10	1721	c.1038G>T	c.(1036-1038)TTG>TTT	p.L346F	CCDC114_uc002piq.2_Missense_Mutation_p.L155F|CCDC114_uc002pio.2_Missense_Mutation_p.L383F|CCDC114_uc002pis.1_Missense_Mutation_p.L26F|CCDC114_uc002pit.1_Missense_Mutation_p.L383F	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	346	Potential.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGCGCTGCTGCAACACCTTCT	0.617000												
ZNF132	7691	broad.mit.edu	37	19	58946280	58946280	+	Silent	SNP	G	G	A	rs150467107	byFrequency	TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr19:58946280G>A	uc002qst.3	-	3	932	c.531C>T	c.(529-531)GAC>GAT	p.D177D		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	177						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TCATAAGTGCGTCCCTGTCCT	0.537000												
CNTNAP5	129684	broad.mit.edu	37	2	125660527	125660527	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr2:125660527G>A	uc002tno.2	+	22	3866	c.3502G>A	c.(3502-3504)GTC>ATC	p.V1168I	CNTNAP5_uc010flu.2_Missense_Mutation_p.V1169I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1168	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V1168I(1)		ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGTCTTCCGTCCAGTACAA	0.493000												
FANCD2	2177	broad.mit.edu	37	3	10081483	10081483	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:10081483G>A	uc003buw.2	+	9	727	c.649G>A	c.(649-651)GAG>AAG	p.E217K	FANCD2_uc003bux.1_Missense_Mutation_p.E217K|FANCD2_uc003buy.1_Missense_Mutation_p.E217K|FANCD2_uc003buv.2_Missense_Mutation_p.E217K	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	217	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGCCTACCTGAGATCCTAGG	0.502000			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
SLC6A20	54716	broad.mit.edu	37	3	45814049	45814049	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:45814049C>A	uc011bai.1	-	5	765	c.641G>T	c.(640-642)GGC>GTC	p.G214V	SLC6A20_uc003cow.2_5'Flank|SLC6A20_uc011baj.1_Intron	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	214	Helical; Name=5; (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GAGCGTGAGGCCCCTGATGAG	0.607000												
RASA2	5922	broad.mit.edu	37	3	141305519	141305519	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:141305519C>T	uc003etz.1	+	19	1858	c.1858C>T	c.(1858-1860)CGG>TGG	p.R620W	RASA2_uc010huq.1_Missense_Mutation_p.R620W|RASA2_uc003eua.1_Missense_Mutation_p.R620W|RASA2_uc011bnc.1_Missense_Mutation_p.R212W	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	620	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						AGGAAGAACTCGGATTGGAAA	0.348000												
OTOL1	131149	broad.mit.edu	37	3	161221712	161221712	+	Silent	SNP	T	T	C			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr3:161221712T>C	uc011bpb.1	+	4	1416	c.1416T>C	c.(1414-1416)ACT>ACC	p.T472T		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	472	C1q.					collagen					0						CAGAGGAAACTTCTGGAATTT	0.393000												
SPATA18	132671	broad.mit.edu	37	4	52945045	52945045	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr4:52945045C>A	uc003gzl.2	+	8	1443	c.1165C>A	c.(1165-1167)CAA>AAA	p.Q389K	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.Q357K|SPATA18_uc003gzk.1_Missense_Mutation_p.Q389K	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	389					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATATGATTCTCAAAGCAGTGT	0.383000												
PDGFRA	5156	broad.mit.edu	37	4	55155048	55155048	+	Silent	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr4:55155048C>T	uc003han.3	+	20	3088	c.2757C>T	c.(2755-2757)GAC>GAT	p.D919D	PDGFRA_uc003haa.2_Silent_p.D679D	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	919	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCAAGCCTGACCACGCTACCA	0.562000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
KIAA1211	57482	broad.mit.edu	37	4	57189672	57189672	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr4:57189672C>T	uc003hbk.2	+	9	3708	c.3317C>T	c.(3316-3318)ACG>ATG	p.T1106M	KIAA1211_uc010iha.2_Missense_Mutation_p.T1099M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1106										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					CAGCAGGCGACGCGGGAGGAG	0.507000												
AGXT2	64902	broad.mit.edu	37	5	35033593	35033593	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:35033593T>C	uc003jjf.2	-	6	726	c.647A>G	c.(646-648)GAA>GGA	p.E216G	AGXT2_uc011com.1_Missense_Mutation_p.E216G|AGXT2_uc011con.1_Missense_Mutation_p.E124G	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	216					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACCAGGGAGTTCCATCTTGTA	0.473000												
WNT8A	7478	broad.mit.edu	37	5	137426675	137426675	+	Silent	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:137426675G>A	uc003lcd.1	+	6	974	c.969G>A	c.(967-969)AAG>AAA	p.K323K	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.K341K|WNT8A_uc011cyk.1_Silent_p.K341K	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	323					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTACGGTCAAGTGTGACCAGT	0.562000												
KDM3B	51780	broad.mit.edu	37	5	137734048	137734048	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:137734048G>C	uc003lcy.1	+	10	3213	c.3013G>C	c.(3013-3015)GAG>CAG	p.E1005Q	KDM3B_uc010jew.1_Missense_Mutation_p.E661Q|KDM3B_uc011cys.1_Missense_Mutation_p.E37Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1005					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CGTAATGTCTGAGAAGGAGGC	0.473000												
PCDHA8	56140	broad.mit.edu	37	5	140222519	140222519	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr5:140222519G>A	uc003lhs.2	+	1	1613	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R538H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCGGGC	0.667000												
CNR1	1268	broad.mit.edu	37	6	88854334	88854334	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr6:88854334C>A	uc011dzq.1	-	2	4223	c.660G>T	c.(658-660)AGG>AGT	p.R220S	CNR1_uc010kbz.2_Missense_Mutation_p.R220S|CNR1_uc011dzr.1_Missense_Mutation_p.R220S|CNR1_uc011dzs.1_Missense_Mutation_p.R220S|CNR1_uc003pmq.3_Missense_Mutation_p.R220S|CNR1_uc011dzt.1_Missense_Mutation_p.R220S|CNR1_uc010kca.2_Missense_Mutation_p.R187S	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	220	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGGCCAGGGGCCTGTGAATGG	0.582000												
KRIT1	889	broad.mit.edu	37	7	91864228	91864228	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr7:91864228C>T	uc003ulq.1	-	7	910	c.739G>A	c.(739-741)GTG>ATG	p.V247M	KRIT1_uc010lev.1_Missense_Mutation_p.V40M|KRIT1_uc003ulr.1_Missense_Mutation_p.V247M|KRIT1_uc003uls.1_Missense_Mutation_p.V247M|KRIT1_uc003ult.1_Missense_Mutation_p.V247M|KRIT1_uc003ulu.1_Missense_Mutation_p.V247M|KRIT1_uc003ulv.1_Missense_Mutation_p.V247M	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	247					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTATTACCACTTTATCTACC	0.308000									Familial_Cerebral_Cavernous_Angioma			
ORAI2	80228	broad.mit.edu	37	7	102079422	102079422	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr7:102079422G>A	uc010lhz.1	+	3	254	c.19G>A	c.(19-21)GTG>ATG	p.V7M	ORAI2_uc003uzj.2_Missense_Mutation_p.V7M|ORAI2_uc003uzk.2_Missense_Mutation_p.V7M|ORAI2_uc011kks.1_Intron	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	7						integral to membrane	protein binding			ovary(1)|kidney(1)	2						TGAGCTTAACGTGCCTATCGA	0.607000												
JHDM1D	80853	broad.mit.edu	37	7	139829297	139829297	+	Silent	SNP	A	A	G			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr7:139829297A>G	uc003vvm.2	-	4	559	c.555T>C	c.(553-555)TAT>TAC	p.Y185Y		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	185					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TCGTACCTACATAACGTTCCA	0.348000												
ATAD2	29028	broad.mit.edu	37	8	124357296	124357296	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr8:124357296G>C	uc003yqh.3	-	19	2654	c.2546C>G	c.(2545-2547)GCT>GGT	p.A849G	ATAD2_uc011lii.1_Missense_Mutation_p.A640G|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A849G	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTTCTCTTAGCTTCACGAAT	0.388000												
TG	7038	broad.mit.edu	37	8	133906122	133906122	+	Silent	SNP	G	G	A			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr8:133906122G>A	uc003ytw.2	+	11	2990	c.2949G>A	c.(2947-2949)GCG>GCA	p.A983A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	983	Thyroglobulin type-1 8.				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)		AGGCTTTCGCGGAGCAGTTTC	0.602000												
TLR8	51311	broad.mit.edu	37	X	12939190	12939190	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chrX:12939190G>T	uc004cve.2	+	2	2099	c.2031G>T	c.(2029-2031)AAG>AAT	p.K677N	TLR8_uc004cvd.2_Missense_Mutation_p.K695N	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	677	Extracellular (Potential).|LRR 20.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ATATGTTAAAGTTTTTTAACT	0.368000												
COL4A5	1287	broad.mit.edu	37	X	107802349	107802349	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chrX:107802349G>T	uc004enz.1	+	3	399	c.197G>T	c.(196-198)GGT>GTT	p.G66V	COL4A5_uc011mso.1_Missense_Mutation_p.G66V	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	66	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GGATTTCCAGGTCCAGAAGGG	0.468000									Alport_syndrome_with_Diffuse_Leiomyomatosis			
SMAD4	4089	broad.mit.edu	37	18	48591920	48591949	+	In_Frame_Del	DEL	CTTTTGTTTGGGTCAACTCTCCAATGTCCA	CTTTTGTTTGGGTCAACTCTCCAATGTCCA	-	rs139569694	byFrequency	TCGA-CD-5803-01A-11D-1600-08	TCGA-CD-5803-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1243c079-6330-4100-a59d-7710770aaa84	b68a283f-dd10-44d6-b5c5-594ef218d469	g.chr18:48591919_48591948GCTTTTGTTTGGGTCAACTCTCCAATGTCCA>G	uc010xdp.2	+	8	1620_1649	c.1082_1111GCTTTTGTTTGGGTCAACTCTCCAATGTCCA>G	c.(1081-1113)cgcttttgtttgggtcaactctccaatgtccac>cGac	p.FCLGQLSNVH362del	SMAD4_uc002lfb.4_In_Frame_Del_p.FCLGQLSNVH207del	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	362	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(24)|p.R361C(7)|p.Q366*(6)|p.F362fs*2(2)|p.N369D(2)|p.?(2)|p.R361S(2)|p.C363R(2)|p.C363S(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGA	0.396