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
MAGOH	4116	broad.mit.edu	37	1	53692785	53692785	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:53692785G>C	uc001cvf.1	-	5	461	c.373C>G	c.(373-375)CTT>GTT	p.L125V	MAGOH_uc010ont.1_Missense_Mutation_p.L88V	NM_002370	NP_002361	P61326	MGN_HUMAN	mago-nashi homolog	125					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding				0						TCCTGGACAAGATAATAAAAT	0.378000												
ZNF697	90874	broad.mit.edu	37	1	120165891	120165891	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:120165891C>T	uc001ehy.1	-	3	1189	c.1075G>A	c.(1075-1077)GGC>AGC	p.G359S		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	359	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AAGCCCTTGCCGCACTCCCCG	0.498000												
FASLG	356	broad.mit.edu	37	1	172634912	172634912	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:172634912C>A	uc001gis.2	+	4	759	c.602C>A	c.(601-603)TCT>TAT	p.S201Y	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	201	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						CGGGGTCAATCTTGCAACAAC	0.468000												
ZNF648	127665	broad.mit.edu	37	1	182026380	182026380	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:182026380C>T	uc001goz.2	-	2	974	c.766G>A	c.(766-768)GGG>AGG	p.G256R		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGGCCCGCCCGCCCCGCAGG	0.716000												
FAM5C	339479	broad.mit.edu	37	1	190067555	190067555	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:190067555G>A	uc001gse.1	-	8	2126	c.1894C>T	c.(1894-1896)CGC>TGC	p.R632C	FAM5C_uc010pot.1_Missense_Mutation_p.R530C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	632						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GACTTGATGCGACTTCTCAGG	0.423000												
CFHR5	81494	broad.mit.edu	37	1	196963269	196963269	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:196963269A>G	uc001gts.3	+	4	618	c.490A>G	c.(490-492)AGC>GGC	p.S164G		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	164	Sushi 3.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AAAAAAAGAAAGCTACAAAGT	0.338000												
ASPM	259266	broad.mit.edu	37	1	197063269	197063269	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:197063269T>A	uc001gtu.2	-	20	9286	c.9029A>T	c.(9028-9030)AAA>ATA	p.K3010I	ASPM_uc001gtv.2_Missense_Mutation_p.K1425I|ASPM_uc001gtw.3_Missense_Mutation_p.K858I	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3010					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGCTCTCCATTTTCTCTGAAT	0.289000												
GPR25	2848	broad.mit.edu	37	1	200842961	200842961	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:200842961G>A	uc001gvn.1	+	1	796	c.796G>A	c.(796-798)GTC>ATC	p.V266I		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	266	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						CCTGCGGGCCGTCTTCCACCT	0.711000												
USH2A	7399	broad.mit.edu	37	1	216420148	216420148	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:216420148T>C	uc001hku.1	-	13	2975	c.2588A>G	c.(2587-2589)AAA>AGA	p.K863R	USH2A_uc001hkv.2_Missense_Mutation_p.K863R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	863	Laminin EGF-like 7.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTGTTGATTTGTTACACAG	0.423000										HNSCC(13;0.011)		
OBSCN	84033	broad.mit.edu	37	1	228509724	228509724	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:228509724G>A	uc009xez.1	+	55	15226	c.15182G>A	c.(15181-15183)CGT>CAT	p.R5061H	OBSCN_uc001hsn.2_Missense_Mutation_p.R5061H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5061					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ATCTGCATCCGTTTTGAGGCG	0.602000												
C1orf124	83932	broad.mit.edu	37	1	231487108	231487108	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:231487108A>G	uc001hur.2	+	4	957	c.509A>G	c.(508-510)AAT>AGT	p.N170S	C1orf124_uc001hus.2_Missense_Mutation_p.N170S|C1orf124_uc001hut.2_Missense_Mutation_p.N127S	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	170					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCGCTGCAATGGGCCGTGC	0.488000												
KMO	8564	broad.mit.edu	37	1	241728342	241728342	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:241728342T>A	uc009xgp.2	+	8	736	c.671T>A	c.(670-672)ATT>AAT	p.I224N	KMO_uc001hyy.2_Missense_Mutation_p.I224N|KMO_uc009xgo.1_Missense_Mutation_p.I224N	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	224					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TTTATGATGATTGCACTTCCT	0.284000												
OR2L3	391192	broad.mit.edu	37	1	248224871	248224871	+	Silent	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr1:248224871G>T	uc001idx.1	+	1	888	c.888G>T	c.(886-888)GTG>GTT	p.V296V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACAAGGAGGTGATGGGGGCCC	0.507000												
LIPN	643418	broad.mit.edu	37	10	90522041	90522041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr10:90522041C>T	uc010qmw.1	+	2	205	c.205C>T	c.(205-207)CGA>TGA	p.R69*		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	69					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TCCTTATGGGCGAACACATGC	0.443000												
LBX1	10660	broad.mit.edu	37	10	102988411	102988411	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr10:102988411G>A	uc001ksx.2	-	1	307	c.162C>T	c.(160-162)TGC>TGT	p.C54C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	54				LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP -> YAVQHRGHPQQAVRAEKLLAAWGGAPAGRRGQARAGRL A (in Ref. 1; CAA62342).	muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GCGCCGCCCCGCACAGCGAGT	0.701000												
MUC5B	727897	broad.mit.edu	37	11	1157553	1157553	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:1157553C>T	uc009ycr.1	+	8	860	c.734C>T	c.(733-735)ACG>ATG	p.T245M		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	241	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACGACCCCACGGAGCAGTGT	0.627000												
LDHA	3939	broad.mit.edu	37	11	18428747	18428747	+	Silent	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:18428747G>T	uc001mok.3	+	8	1190	c.918G>T	c.(916-918)GTG>GTT	p.V306V	LDHA_uc010rdc.1_Silent_p.V248V|LDHA_uc009yhn.2_Silent_p.V305V|LDHA_uc009yho.2_Silent_p.V133V|LDHA_uc001mol.3_3'UTR|LDHA_uc010rdd.1_Silent_p.V335V	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	306					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)	TTGTGAAGGTGACTCTGACTT	0.423000												
AGBL2	79841	broad.mit.edu	37	11	47711960	47711960	+	Silent	SNP	G	G	A	rs139207920		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:47711960G>A	uc001ngg.2	-	9	1399	c.1299C>T	c.(1297-1299)ACC>ACT	p.T433T	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Silent_p.T395T|AGBL2_uc001ngh.1_Silent_p.T377T	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	433					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						GCAAGTAAACGGTATTTCCTG	0.498000												
OR5J2	282775	broad.mit.edu	37	11	55944637	55944637	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:55944637C>T	uc010rjb.1	+	1	544	c.544C>T	c.(544-546)CCT>TCT	p.P182S		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					CTGTGACATTCCTTCACTGCT	0.443000												
OR5M10	390167	broad.mit.edu	37	11	56345162	56345162	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:56345162G>T	uc001niz.1	-	1	36	c.36C>A	c.(34-36)TTC>TTA	p.F12L		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTAAGAGAATGAATTCTGTCA	0.453000												
KIAA1377	57562	broad.mit.edu	37	11	101833060	101833060	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:101833060G>A	uc001pgm.2	+	6	1564	c.1294G>A	c.(1294-1296)GCT>ACT	p.A432T	KIAA1377_uc001pgn.2_Missense_Mutation_p.A388T|KIAA1377_uc010run.1_Missense_Mutation_p.A233T|KIAA1377_uc009yxa.1_Missense_Mutation_p.A233T	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	432							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCAGGAAGTGGCTACATTTCC	0.378000												
NCAM1	4684	broad.mit.edu	37	11	113103891	113103891	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:113103891C>T	uc009yyq.1	+	14	1963	c.1269C>T	c.(1267-1269)ATC>ATT	p.I423I		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	515	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CACCATCCATCGACCAGGTGG	0.547000												
APOA4	337	broad.mit.edu	37	11	116691672	116691672	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:116691672G>A	uc001pps.1	-	3	1206	c.1102C>T	c.(1102-1104)CTC>TTC	p.L368F		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGGAGGGAGAGAGTCTTGTCC	0.458000												
VPS11	55823	broad.mit.edu	37	11	118947716	118947716	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:118947716A>G	uc010ryx.1	+	9	1390	c.1348A>G	c.(1348-1350)AAT>GAT	p.N450D	VPS11_uc010ryy.1_Missense_Mutation_p.N296D	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	450	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATCCCTGGCCAATGCCGACCA	0.552000												
ARHGEF12	23365	broad.mit.edu	37	11	120302617	120302617	+	Silent	SNP	A	A	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:120302617A>T	uc001pxl.1	+	11	928	c.921A>T	c.(919-921)GCA>GCT	p.A307A	ARHGEF12_uc009zat.2_Silent_p.A288A|ARHGEF12_uc010rzn.1_Silent_p.A204A|ARHGEF12_uc009zau.1_Silent_p.A204A	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	307					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTGACAATGCAGATGTAAGCT	0.418000			T	MLL	AML							
KCNA1	3736	broad.mit.edu	37	12	5020969	5020969	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:5020969G>A	uc001qnh.2	+	2	1530	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	142					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGGAGGAGCGCCCTCTGCCC	0.627000												
PRB4	5545	broad.mit.edu	37	12	11461525	11461525	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:11461525G>T	uc001qzf.1	-	3	426	c.392C>A	c.(391-393)TCC>TAC	p.S131Y	PRB4_uc001qzt.2_Missense_Mutation_p.S131Y	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	194	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|8.					extracellular region				ovary(1)	1						GGGACGGTGGGACTGGTTGCC	0.597000										HNSCC(22;0.051)		
ALG10B	144245	broad.mit.edu	37	12	38714307	38714307	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:38714307G>T	uc001rln.3	+	3	853	c.714G>T	c.(712-714)TTG>TTT	p.L238F	ALG10B_uc001rlo.3_Missense_Mutation_p.L208F|ALG10B_uc010skk.1_Missense_Mutation_p.L178F	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	238	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTTCTTTTGGCTTATTCCA	0.368000												
MBD6	114785	broad.mit.edu	37	12	57919589	57919589	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:57919589G>A	uc001soj.1	+	6	1062	c.838G>A	c.(838-840)GCC>ACC	p.A280T	MBD6_uc001sok.1_Missense_Mutation_p.A147T|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	280	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TAATCTCCCCGCCCACCCTGG	0.667000												
DPY19L2	283417	broad.mit.edu	37	12	64020294	64020294	+	Silent	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:64020294C>G	uc001srp.1	-	7	997	c.816G>C	c.(814-816)CTG>CTC	p.L272L	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	272	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TAAGACCTCCCAGTTGAGTCC	0.318000												
CPM	1368	broad.mit.edu	37	12	69265719	69265719	+	Silent	SNP	C	C	T	rs144566244		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:69265719C>T	uc001sup.2	-	4	337	c.276G>A	c.(274-276)CTG>CTA	p.L92L	CPM_uc001sur.2_Silent_p.L92L|CPM_uc001suq.2_Silent_p.L92L	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	92					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GATGGAGCAGCAGCTCCCGCC	0.438000												
RASAL1	8437	broad.mit.edu	37	12	113543594	113543594	+	Silent	SNP	C	C	T	rs139573405		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:113543594C>T	uc001tum.1	-	17	2045	c.1752G>A	c.(1750-1752)ACG>ACA	p.T584T	RASAL1_uc010syp.1_Silent_p.T585T|RASAL1_uc001tul.2_Silent_p.T584T|RASAL1_uc001tun.1_Silent_p.T586T|RASAL1_uc010syq.1_Silent_p.T585T|RASAL1_uc001tuo.3_Silent_p.T585T	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	584	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						AGGCAAAGCGCGTGGCCAGGC	0.627000												
MAB21L1	4081	broad.mit.edu	37	13	36049332	36049332	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:36049332C>T	uc001uvc.2	-	1	1501	c.944G>A	c.(943-945)CGG>CAG	p.R315Q	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	315					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTGGGGACACCGCCGGCACTG	0.542000												
DCLK1	9201	broad.mit.edu	37	13	36410222	36410222	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:36410222C>T	uc001uvf.2	-	8	1410	c.1177G>A	c.(1177-1179)GGA>AGA	p.G393R	DCLK1_uc001uve.3_Missense_Mutation_p.G86R|DCLK1_uc010teh.1_Missense_Mutation_p.G86R|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	393	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATTGTTCTTCCGACTTTATAT	0.368000												
PIBF1	10464	broad.mit.edu	37	13	73505334	73505334	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:73505334G>A	uc001vjc.2	+	14	2067	c.1762G>A	c.(1762-1764)GAA>AAA	p.E588K	PIBF1_uc001vjb.2_Missense_Mutation_p.E588K|PIBF1_uc010aep.2_Missense_Mutation_p.E47K	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	588						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCTTCAATTAGAAAAACAAAA	0.323000												
RAP2A	5911	broad.mit.edu	37	13	98116679	98116679	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:98116679G>T	uc001vnd.2	+	2	785	c.535G>T	c.(535-537)GCA>TCA	p.A179S		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	179					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ATGCTGTTCTGCATGTAACAT	0.453000												
MYO16	23026	broad.mit.edu	37	13	109793302	109793302	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr13:109793302C>T	uc001vqt.1	+	32	4802	c.4676C>T	c.(4675-4677)GCG>GTG	p.A1559V	MYO16_uc010agk.1_Missense_Mutation_p.A1581V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1559	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGGCCTGGCGCTGTTCAAC	0.617000												
RAB2B	84932	broad.mit.edu	37	14	21936528	21936528	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:21936528A>G	uc010tlt.1	-	5	451	c.350T>C	c.(349-351)ATT>ACT	p.I117T	RAB2B_uc010tls.1_Missense_Mutation_p.I71T|RAB2B_uc001wax.2_Missense_Mutation_p.I52T|RAB2B_uc010ain.2_Intron	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	117					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTTATTCCCAATGAGCATGAT	0.358000												
TGM1	7051	broad.mit.edu	37	14	24731015	24731015	+	Missense_Mutation	SNP	C	C	T	rs2229462	byFrequency	TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:24731015C>T	uc001wod.2	-	3	518	c.394G>A	c.(394-396)GAC>AAC	p.D132N	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	132					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TCATACTCGTCTGTGTGGTGC	0.587000												
NOVA1	4857	broad.mit.edu	37	14	26917189	26917189	+	Silent	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:26917189A>G	uc001wpy.2	-	5	1818	c.1500T>C	c.(1498-1500)GCT>GCC	p.A500A	NOVA1_uc001wpz.2_Silent_p.A476A|NOVA1_uc001wqa.2_Silent_p.A378A	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	503					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		GAGGATTGGCAGCCCGAACTC	0.448000												
AKAP6	9472	broad.mit.edu	37	14	33205031	33205031	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:33205031T>A	uc001wrq.2	+	11	3485	c.3315T>A	c.(3313-3315)TGT>TGA	p.C1105*		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1105	Spectrin 2.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCAATTCCTGTCTGAGACAAG	0.373000												
PTGDR	5729	broad.mit.edu	37	14	52734759	52734759	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:52734759A>G	uc001wzq.2	+	1	329	c.227A>G	c.(226-228)AAG>AGG	p.K76R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TTGCTGGGCAAGTGCCTCCTA	0.672000												
SMOC1	64093	broad.mit.edu	37	14	70478205	70478205	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:70478205C>T	uc001xls.1	+	9	1114	c.861C>T	c.(859-861)TAC>TAT	p.Y287Y	SMOC1_uc001xlt.1_Silent_p.Y287Y	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	287	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TTCCCAGCTACGTGATGCCCA	0.582000												
TMEM90A	646658	broad.mit.edu	37	14	74876111	74876111	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr14:74876111C>T	uc001xpx.2	-	2	585	c.337G>A	c.(337-339)GAG>AAG	p.E113K		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	113					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		GTGACATTCTCTGCAGCTTGG	0.597000												
RYR3	6263	broad.mit.edu	37	15	33993251	33993251	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:33993251G>A	uc001zhi.2	+	42	6523	c.6453G>A	c.(6451-6453)GCG>GCA	p.A2151A	RYR3_uc010bar.2_Silent_p.A2151A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2151	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGAGTTAGCGCTGAGCTTAG	0.567000											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FBN1	2200	broad.mit.edu	37	15	48807662	48807662	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:48807662G>A	uc001zwx.1	-	12	1718	c.1390C>T	c.(1390-1392)CGC>TGC	p.R464C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	464	EGF-like 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAATGCAGCGTCCATTTTGA	0.483000												
MYO9A	4649	broad.mit.edu	37	15	72189824	72189824	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:72189824T>G	uc002atl.3	-	25	5493	c.5020A>C	c.(5020-5022)AAG>CAG	p.K1674Q	MYO9A_uc010biq.2_Missense_Mutation_p.K1294Q|MYO9A_uc002atn.1_Missense_Mutation_p.K1655Q|MYO9A_uc002atk.2_Missense_Mutation_p.K398Q|MYO9A_uc002atm.1_Missense_Mutation_p.K398Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1674	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATATTGTCCTTTGGAGTGAAG	0.383000												
ARNT2	9915	broad.mit.edu	37	15	80855457	80855457	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr15:80855457C>T	uc002bfr.2	+	12	1359	c.1193C>T	c.(1192-1194)TCG>TTG	p.S398L	ARNT2_uc010unm.1_Missense_Mutation_p.S387L|ARNT2_uc002bfs.2_Missense_Mutation_p.S387L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	398	PAC.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CAAGTCCTGTCGGTCATGTAT	0.502000												
PRR25	388199	broad.mit.edu	37	16	855813	855813	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:855813G>A	uc010uut.1	+	1	371	c.371G>A	c.(370-372)CGG>CAG	p.R124Q		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	124	Pro-rich.									large_intestine(1)	1						CCTGCCATGCGGGCCCCTTCT	0.652000												
ABCC6	368	broad.mit.edu	37	16	16295962	16295962	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:16295962G>A	uc002den.3	-	9	1109	c.1072C>T	c.(1072-1074)CTC>TTC	p.L358F	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.L370F	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	358	Helical; Name=7; (By similarity).|ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGGCTGAGAGGAACATCAGC	0.572000												
PALB2	79728	broad.mit.edu	37	16	23647258	23647258	+	Silent	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:23647258T>C	uc002dlx.1	-	4	809	c.609A>G	c.(607-609)AAA>AAG	p.K203K		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	203	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GAAGTTCAGATTTAAGACTTA	0.373000			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			
NLRC5	84166	broad.mit.edu	37	16	57060526	57060526	+	Silent	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:57060526C>G	uc002ekk.1	+	6	1896	c.1671C>G	c.(1669-1671)CTC>CTG	p.L557L	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.L362L|NLRC5_uc002ekl.2_Silent_p.L362L|NLRC5_uc002ekm.2_Silent_p.L362L|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	557					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GACTGGGCCTCTCAGACCACC	0.617000												
ZFHX3	463	broad.mit.edu	37	16	72992903	72992903	+	Missense_Mutation	SNP	G	G	A	rs142313117		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr16:72992903G>A	uc002fck.2	-	2	1815	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	381					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCGGAGCCCGCTGGGAGAGC	0.592000												
KDM6B	23135	broad.mit.edu	37	17	7754452	7754452	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr17:7754452C>T	uc002giw.1	+	14	4163	c.3787C>T	c.(3787-3789)CGG>TGG	p.R1263W	KDM6B_uc002gix.2_Missense_Mutation_p.R565W	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1263					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GACAGGCACTCGGCAGATCTG	0.592000												
MED24	9862	broad.mit.edu	37	17	38186032	38186032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr17:38186032C>T	uc002htt.2	-	13	1548	c.1235G>A	c.(1234-1236)CGG>CAG	p.R412Q	MED24_uc010wes.1_Missense_Mutation_p.R272Q|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.R437Q|MED24_uc002htu.2_Missense_Mutation_p.R399Q|MED24_uc010cwn.2_Missense_Mutation_p.R399Q|MED24_uc010weu.1_Missense_Mutation_p.R322Q|MED24_uc010wev.1_Missense_Mutation_p.R362Q|MED24_uc010wew.1_Missense_Mutation_p.R341Q|MED24_uc010wex.1_Missense_Mutation_p.R117Q	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	412					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					GGGCTCCGCCCGGAGGATCAG	0.567000												
TANC2	26115	broad.mit.edu	37	17	61498102	61498102	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr17:61498102C>T	uc002jal.3	+	25	4782	c.4759C>T	c.(4759-4761)CGG>TGG	p.R1587W	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R698W	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1587							binding			ovary(2)	2						AATGGCCCAGCGGCCCTACCA	0.577000												
MIER2	54531	broad.mit.edu	37	19	334463	334463	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:334463G>A	uc002lok.1	-	3	189	c.180C>T	c.(178-180)TGC>TGT	p.C60C		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCTCCTCGCACTCCCCCC	0.592000												
RNF126	55658	broad.mit.edu	37	19	648886	648886	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:648886G>A	uc010drs.2	-	7	772	c.666C>T	c.(664-666)CAC>CAT	p.H222H	RNF126_uc002lpi.2_Silent_p.H46H	NM_194460	NP_919442	Q9BV68	RN126_HUMAN	ring finger protein 126	222							protein binding|zinc ion binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCATACCTACGTGCTCCTCAG	0.308000												
SEMA6B	10501	broad.mit.edu	37	19	4543641	4543641	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:4543641G>A	uc010duc.1	-	16	2677	c.2639C>T	c.(2638-2640)GCG>GTG	p.A880V	SEMA6B_uc010dud.2_Missense_Mutation_p.A880V|SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	880	Cytoplasmic (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCTGTCCGCCCCCCCATA	0.751000												
ACSBG2	81616	broad.mit.edu	37	19	6187752	6187752	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:6187752A>C	uc002mef.1	+	13	2050	c.1823A>C	c.(1822-1824)CAG>CCG	p.Q608P	ACSBG2_uc002mee.1_Missense_Mutation_p.Q421P|ACSBG2_uc002meg.1_Missense_Mutation_p.Q608P|ACSBG2_uc002meh.1_Missense_Mutation_p.Q608P|ACSBG2_uc002mei.1_Missense_Mutation_p.Q558P|ACSBG2_uc010xiz.1_Missense_Mutation_p.Q580P	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	bubblegum-related acyl-CoA synthetase 2	608					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1						AAGGCCATCCAGCAAGGCATC	0.522000												
DENND1C	79958	broad.mit.edu	37	19	6471429	6471429	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:6471429C>T	uc002mfe.2	-	16	1329	c.1237G>A	c.(1237-1239)GGG>AGG	p.G413R	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.G369R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	413						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						GAGGAGGCCCCGCAGCCAGTG	0.637000												
DOCK6	57572	broad.mit.edu	37	19	11325064	11325064	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:11325064G>A	uc002mqs.3	-	34	4266	c.4225C>T	c.(4225-4227)CGG>TGG	p.R1409W	DOCK6_uc010xlq.1_Missense_Mutation_p.R748W	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1409					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACGCTCTCCCGGGCTTCTGAA	0.597000												
RAD23A	5886	broad.mit.edu	37	19	13059068	13059068	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:13059068G>A	uc002mvw.1	+	3	421	c.312G>A	c.(310-312)CCG>CCA	p.P104P	RAD23A_uc002mvx.1_Silent_p.P104P|RAD23A_uc002mvz.1_Silent_p.P104P|RAD23A_uc002mwa.1_Silent_p.P104P|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	104					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						CATCCTTCCCGCCTGCCCCCA	0.637000								NER				
DNAJB1	3337	broad.mit.edu	37	19	14626879	14626879	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:14626879C>T	uc002myz.1	-	3	936	c.896G>A	c.(895-897)GGA>GAA	p.G299E	DNAJB1_uc010xnr.1_Missense_Mutation_p.G199E	NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	299					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(1328;0.0476)		GAGGCCTTCTCCAGGAACTTT	0.542000												
CPAMD8	27151	broad.mit.edu	37	19	17085975	17085975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:17085975G>A	uc002nfb.2	-	17	2175	c.2143C>T	c.(2143-2145)CGA>TGA	p.R715*		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	668	Poly-Arg.					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CGCCGGCGTCGTTGTGCCGTC	0.577000												
ZNF100	163227	broad.mit.edu	37	19	21927839	21927839	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:21927839C>G	uc002nqi.2	-	3	326	c.127G>C	c.(127-129)GAA>CAA	p.E43Q	ZNF100_uc002nqh.2_5'UTR	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGAGAATTCTATGGCCACA	0.448000												
RYR1	6261	broad.mit.edu	37	19	39005693	39005693	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:39005693G>A	uc002oit.2	+	64	9630	c.9500G>A	c.(9499-9501)CGA>CAA	p.R3167Q	RYR1_uc002oiu.2_Missense_Mutation_p.R3167Q|RYR1_uc002oiv.1_Missense_Mutation_p.R87Q|RYR1_uc010xuf.1_Missense_Mutation_p.R87Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3167					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTTGCTACCGAACGCTGTGC	0.607000											OREG0025449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CEACAM5	1048	broad.mit.edu	37	19	42224897	42224897	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:42224897G>A	uc002ork.2	+	8	1948	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	CEACAM5_uc002orj.1_Silent_p.A608A|CEACAM5_uc002orl.2_Silent_p.A609A	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	609	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTTCGGGAGCGAACCTCAACC	0.532000												
FOSB	2354	broad.mit.edu	37	19	45974176	45974176	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:45974176G>A	uc002pbx.3	+	2	1008	c.416G>A	c.(415-417)CGA>CAA	p.R139Q	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.R139Q|FOSB_uc010eke.2_Missense_Mutation_p.R100Q|FOSB_uc002pby.3_Missense_Mutation_p.R139Q|FOSB_uc010eka.1_Missense_Mutation_p.R100Q|FOSB_uc010ekb.1_Missense_Mutation_p.R139Q|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Missense_Mutation_p.R100Q|FOSB_uc010ekd.1_Missense_Mutation_p.R139Q|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.R90Q	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	139					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCCAGCCCGAGCCCGGCCT	0.627000												
DHX34	9704	broad.mit.edu	37	19	47884092	47884092	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:47884092G>A	uc010xyn.1	+	15	3343	c.3002G>A	c.(3001-3003)CGG>CAG	p.R1001Q	DHX34_uc010xyo.1_Missense_Mutation_p.R130Q	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1001						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCCTCCGGCGGCTCACAGGG	0.373000												
FAM110C	642273	broad.mit.edu	37	2	46085	46085	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:46085T>A	uc010yim.1	-	1	301	c.301A>T	c.(301-303)ATC>TTC	p.I101F		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	hypothetical protein LOC642273	101						microtubule|microtubule organizing center|spindle pole					0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGGTAGATGATCAGCGAGTCC	0.512000												
TPO	7173	broad.mit.edu	37	2	1488493	1488493	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:1488493C>T	uc002qww.2	+	9	1555	c.1464C>T	c.(1462-1464)GCC>GCT	p.A488A	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.A488A|TPO_uc002qwr.2_Silent_p.A488A|TPO_uc002qwx.2_Silent_p.A488A|TPO_uc010yio.1_Silent_p.A315A|TPO_uc010yip.1_Silent_p.A488A|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	488	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCTCCACAGCCGCCTTCCGCT	0.662000												
FAM98A	25940	broad.mit.edu	37	2	33817166	33817166	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:33817166C>T	uc002rpa.1	-	3	392	c.318G>A	c.(316-318)AAG>AAA	p.K106K	FAM98A_uc010yne.1_5'UTR	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	106										ovary(1)	1	all_hematologic(175;0.115)					GGAGGCAGTTCTTCTGAATGA	0.428000												
USP34	9736	broad.mit.edu	37	2	61607324	61607324	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:61607324C>T	uc002sbe.2	-	7	1016	c.994G>A	c.(994-996)GCT>ACT	p.A332T		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	332					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			CTCAATCCAGCCAACCTCATA	0.299000												
CNTNAP5	129684	broad.mit.edu	37	2	125204395	125204395	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:125204395C>A	uc002tno.2	+	6	1163	c.799C>A	c.(799-801)CAG>AAG	p.Q267K	CNTNAP5_uc010flu.2_Missense_Mutation_p.Q267K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	267	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGGATGACCAGCACTGGCA	0.612000												
NXPH2	11249	broad.mit.edu	37	2	139429072	139429072	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:139429072G>A	uc002tvi.2	-	2	215	c.215C>T	c.(214-216)GCG>GTG	p.A72V		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	72	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		GTCTGCGTACGCCATGGGGCC	0.547000												
CYTIP	9595	broad.mit.edu	37	2	158272339	158272339	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:158272339G>A	uc002tzj.1	-	8	1002	c.930C>T	c.(928-930)AGC>AGT	p.S310S	CYTIP_uc010zcl.1_Silent_p.S204S	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	310	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						ACATGGATCCGCTGCTGGTGT	0.512000												
CIR1	9541	broad.mit.edu	37	2	175216446	175216446	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:175216446C>T	uc002uim.2	-	8	585	c.492G>A	c.(490-492)TCG>TCA	p.S164S	CIR1_uc002uin.2_Silent_p.S38S|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_Silent_p.S53S	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	164					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						AGGGGTGCATCGATGGCCCTG	0.438000												
TTN	7273	broad.mit.edu	37	2	179457001	179457001	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:179457001T>G	uc010zfg.1	-	251	52150	c.51926A>C	c.(51925-51927)AAA>ACA	p.K17309T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K11004T|TTN_uc010zfi.1_Missense_Mutation_p.K10937T|TTN_uc010zfj.1_Missense_Mutation_p.K10812T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18236							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCCCAGGTTTATCTAAAAA	0.318000												
TTN	7273	broad.mit.edu	37	2	179479416	179479416	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:179479416C>G	uc010zfg.1	-	210	41345	c.41121G>C	c.(41119-41121)AAG>AAC	p.K13707N	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.K7402N|TTN_uc010zfi.1_Missense_Mutation_p.K7335N|TTN_uc010zfj.1_Missense_Mutation_p.K7210N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14634							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTCAATCTTGGTCCCAG	0.408000												
PPP1R1C	151242	broad.mit.edu	37	2	182850873	182850873	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:182850873C>T	uc002uoo.2	+	1	323	c.36C>T	c.(34-36)GCC>GCT	p.A12A	PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Silent_p.A12A|PPP1R1C_uc010frm.1_Silent_p.A12A|PPP1R1C_uc010frn.1_RNA	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	12					signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TACAGTTTGCCGTGCCTGTAT	0.443000												
EPHA4	2043	broad.mit.edu	37	2	222429003	222429003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:222429003G>A	uc002vmq.2	-	3	313	c.271C>T	c.(271-273)CGA>TGA	p.R91*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.R91*|EPHA4_uc010zlm.1_Nonsense_Mutation_p.R32*|EPHA4_uc010zln.1_Nonsense_Mutation_p.R91*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	91	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCCCCTTCTCGGGTGATCCAA	0.468000												
PAX3	5077	broad.mit.edu	37	2	223158908	223158908	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr2:223158908G>A	uc010fwo.2	-	4	930	c.564C>T	c.(562-564)ATC>ATT	p.I188I	PAX3_uc002vmt.1_Silent_p.I188I|PAX3_uc002vmy.1_Silent_p.I187I|PAX3_uc002vmv.1_Silent_p.I188I|PAX3_uc002vmw.1_Silent_p.I188I|PAX3_uc002vmx.1_Silent_p.I188I|PAX3_uc002vmz.1_Silent_p.I188I|PAX3_uc002vna.1_Silent_p.I188I	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	188					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGCCGTCGATGCTGTGTT	0.592000			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
ASXL1	171023	broad.mit.edu	37	20	31024757	31024757	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:31024757C>T	uc002wxs.2	+	12	4668	c.4242C>T	c.(4240-4242)CCC>CCT	p.P1414P	ASXL1_uc010geb.2_Silent_p.P1305P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1414					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GGAAATTACCCCGAGAGCCAG	0.542000			F|N|Mis		MDS|CMML							
EYA2	2139	broad.mit.edu	37	20	45771717	45771717	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:45771717G>A	uc002xsm.2	+	10	1282	c.908G>A	c.(907-909)CGC>CAC	p.R303H	EYA2_uc010ghp.2_Missense_Mutation_p.R303H|EYA2_uc002xsn.2_Missense_Mutation_p.R308H|EYA2_uc002xso.2_Missense_Mutation_p.R303H|EYA2_uc002xsp.2_Missense_Mutation_p.R303H|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	303					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ACGTCCGTGCGCATTGGCCTT	0.483000												
ZFP64	55734	broad.mit.edu	37	20	50701434	50701434	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:50701434G>A	uc002xwk.2	-	9	1949	c.1600C>T	c.(1600-1602)CGG>TGG	p.R534W	ZFP64_uc002xwj.2_Missense_Mutation_p.R315W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGCTGGGCCGCTTCGTGTCG	0.652000												
PRPF6	24148	broad.mit.edu	37	20	62630983	62630983	+	Silent	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr20:62630983C>G	uc002yho.2	+	8	1062	c.894C>G	c.(892-894)CTC>CTG	p.L298L	PRPF6_uc002yhp.2_Silent_p.L298L	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	298					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GACTGCTCCTCAAGTCTGTTC	0.582000												
GRIK1	2897	broad.mit.edu	37	21	31045320	31045320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr21:31045320C>T	uc002yno.1	-	4	1173	c.709G>A	c.(709-711)GCT>ACT	p.A237T	GRIK1_uc002ynn.2_Missense_Mutation_p.A237T|GRIK1_uc011acs.1_Missense_Mutation_p.A237T|GRIK1_uc011act.1_Missense_Mutation_p.A181T|GRIK1_uc010glq.1_Missense_Mutation_p.A95T|GRIK1_uc002ynr.2_Missense_Mutation_p.A237T	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	237	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGATTTCAGCGGCTGTTTCA	0.413000												
KRTAP21-1	337977	broad.mit.edu	37	21	32127679	32127679	+	Silent	SNP	G	G	A	rs147444076		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr21:32127679G>A	uc011adi.1	-	1	18	c.18C>T	c.(16-18)TAC>TAT	p.Y6Y		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	6						intermediate filament				breast(1)	1						agGAGTTGCCGTAGTAGTTGC	0.239000												
PLA2G6	8398	broad.mit.edu	37	22	38516783	38516783	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr22:38516783C>T	uc003auy.1	-	12	1861	c.1725G>A	c.(1723-1725)ACG>ACA	p.T575T	PLA2G6_uc003auz.1_Silent_p.T521T|PLA2G6_uc003ava.1_Silent_p.T575T|PLA2G6_uc003avb.2_Silent_p.T521T|PLA2G6_uc010gxk.1_RNA	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	575					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	TCCTGACGTCCGTCATCTTGG	0.647000												
EFCAB6	64800	broad.mit.edu	37	22	43996139	43996139	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr22:43996139C>T	uc003bdy.1	-	23	2901	c.2686G>A	c.(2686-2688)GAC>AAC	p.D896N	EFCAB6_uc003bdz.1_Missense_Mutation_p.D744N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D744N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D122N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	896	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				CCCTCGGTGTCGTATCTTAAA	0.438000												
ZCWPW2	152098	broad.mit.edu	37	3	28533625	28533625	+	Silent	SNP	C	C	T	rs145732706		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:28533625C>T	uc003ceh.2	+	6	786	c.618C>T	c.(616-618)TCC>TCT	p.S206S	ZCWPW2_uc003cei.2_Silent_p.S206S|ZCWPW2_uc010hfo.2_Silent_p.S11S	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	206							zinc ion binding			ovary(2)	2						CAGATAAATCCGAAACACATG	0.294000												
STT3B	201595	broad.mit.edu	37	3	31658494	31658494	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:31658494G>T	uc011axe.1	+	7	1050	c.1050G>T	c.(1048-1050)CAG>CAT	p.Q350H	STT3B_uc010hft.1_Missense_Mutation_p.Q350H|STT3B_uc003cer.1_Missense_Mutation_p.Q350H|STT3B_uc003cet.2_Missense_Mutation_p.Q101H	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	350					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						AAGAGTTCCAGACCCTTTTCT	0.408000												
MYRIP	25924	broad.mit.edu	37	3	39942407	39942407	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:39942407G>C	uc003cka.2	+	2	235	c.100G>C	c.(100-102)GAA>CAA	p.E34Q	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.E34Q|MYRIP_uc010hhw.2_5'UTR|MYRIP_uc010hhx.1_Missense_Mutation_p.E34Q	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	34	RabBD.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AAAAGAAGAAGAACGACTAAG	0.483000												
PTPN23	25930	broad.mit.edu	37	3	47451047	47451047	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:47451047C>T	uc003crf.1	+	18	2034	c.1938C>T	c.(1936-1938)GAC>GAT	p.D646D	PTPN23_uc011baw.1_Silent_p.D611D|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.D516D	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	646					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTCAGCGACTTGGACCAAA	0.642000												
RNF123	63891	broad.mit.edu	37	3	49738938	49738938	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:49738938G>A	uc003cxh.2	+	16	1378	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	RNF123_uc010hky.1_Missense_Mutation_p.R93H|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	431						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACGTGCTCCGCTCCGTCGTC	0.632000											OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBA7	7318	broad.mit.edu	37	3	49845248	49845248	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:49845248C>A	uc003cxr.2	-	21	2807	c.2636G>T	c.(2635-2637)AGT>ATT	p.S879I		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	879					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)		GCGAAAGGCACTACGAGGCCG	0.582000												
GRM2	2912	broad.mit.edu	37	3	51750017	51750017	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:51750017C>T	uc010hlv.2	+	4	2467	c.2228C>T	c.(2227-2229)ACG>ATG	p.T743M	GRM2_uc003dbo.3_Missense_Mutation_p.T125M|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	743	Helical; Name=5; (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCGCTCTGCACGCTTTATGCC	0.577000												
IQCF3	401067	broad.mit.edu	37	3	51864501	51864501	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:51864501G>A	uc010hlx.1	+	5	490	c.149G>A	c.(148-150)CGC>CAC	p.R50H	IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA	NM_001085479	NP_001078948	P0C7M6	IQCF3_HUMAN	IQ motif containing F3	50										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCCTGGTGCGCAGGACCCTG	0.617000												
CACNA2D3	55799	broad.mit.edu	37	3	54798283	54798283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:54798283G>T	uc003dhf.2	+	13	1333	c.1285G>T	c.(1285-1287)GAG>TAG	p.E429*	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.E335*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.E163*	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	429	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGATGTGCAGGAGAATGTCAT	0.488000												
LRTM1	57408	broad.mit.edu	37	3	54958856	54958856	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:54958856T>C	uc003dhl.2	-	2	528	c.394A>G	c.(394-396)AAC>GAC	p.N132D	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	132	LRR 4.|Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTTATGTTGTTTGATGACAAA	0.473000												
C3orf63	23272	broad.mit.edu	37	3	56667109	56667109	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:56667109T>C	uc003did.3	-	17	3628	c.3527A>G	c.(3526-3528)CAT>CGT	p.H1176R	C3orf63_uc003dib.3_Missense_Mutation_p.H295R|C3orf63_uc003dic.3_Missense_Mutation_p.H800R|C3orf63_uc003die.3_Missense_Mutation_p.H1237R	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1237										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TTCTTCTTCATGAATATAAAA	0.318000												
ROBO2	6092	broad.mit.edu	37	3	77572049	77572049	+	Silent	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:77572049C>G	uc003dpy.3	+	6	1573	c.930C>G	c.(928-930)GTC>GTG	p.V310V	ROBO2_uc003dpz.2_Silent_p.V310V|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.V310V	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	310	Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACTCACCGTCCGAGGTAAGA	0.368000												
SENP7	57337	broad.mit.edu	37	3	101062717	101062717	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:101062717G>A	uc003dut.2	-	14	2030	c.1919C>T	c.(1918-1920)ACG>ATG	p.T640M	SENP7_uc003duu.2_Missense_Mutation_p.T575M|SENP7_uc003duv.2_Missense_Mutation_p.T607M|SENP7_uc003duw.2_Missense_Mutation_p.T574M|SENP7_uc003dux.2_Missense_Mutation_p.T476M	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	640					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ACTTATTTCCGTCATAATATC	0.338000												
TMPRSS7	344805	broad.mit.edu	37	3	111782387	111782387	+	Missense_Mutation	SNP	C	C	T	rs140725969	by1000genomes	TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:111782387C>T	uc010hqb.2	+	10	1255	c.1085C>T	c.(1084-1086)TCT>TTT	p.S362F	TMPRSS7_uc011bhr.1_Missense_Mutation_p.S217F	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	488	LDL-receptor class A 1.|Extracellular (Potential).				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						CCTGTTGGATCTTTTAGATGC	0.413000												
ZBTB38	253461	broad.mit.edu	37	3	141162147	141162147	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:141162147G>A	uc003etw.2	+	8	1899	c.917G>A	c.(916-918)CGT>CAT	p.R306H	ZBTB38_uc010hun.2_Missense_Mutation_p.R303H|ZBTB38_uc010huo.2_Missense_Mutation_p.R306H|ZBTB38_uc003ety.2_Missense_Mutation_p.R306H|ZBTB38_uc010hup.2_Missense_Mutation_p.R307H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	306					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						GTTCTCACTCGTTCAAAATCT	0.468000												
TNFSF10	8743	broad.mit.edu	37	3	172224683	172224683	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:172224683G>A	uc003fid.2	-	5	540	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TNFSF10_uc003fie.2_Silent_p.A99A	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	149	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTTATTTTGCGGCCCAGAGCC	0.433000												
PIGZ	80235	broad.mit.edu	37	3	196675164	196675164	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr3:196675164G>A	uc003fxh.2	-	3	751	c.604C>T	c.(604-606)CGC>TGC	p.R202C		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	202					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGCTCCTTGCGTGTAGGGCCC	0.607000												
KCNIP4	80333	broad.mit.edu	37	4	21305486	21305486	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:21305486A>G	uc003gqf.1	-	1	44	c.44T>C	c.(43-45)ATT>ACT	p.I15T	KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron	NM_147183	NP_671712	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 4	Error:Variant_position_missing_in_Q6PIL6_after_alignment						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				AAAAAGCACAATGACGATCAG	0.433000												
ATP10D	57205	broad.mit.edu	37	4	47570926	47570926	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:47570926G>A	uc003gxk.1	+	16	3090	c.2926G>A	c.(2926-2928)GTG>ATG	p.V976M	ATP10D_uc003gxl.1_Missense_Mutation_p.V224M	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	976	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GCCAGAGCAAGTGTCATTAAG	0.493000												
EPHA5	2044	broad.mit.edu	37	4	66361149	66361149	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:66361149A>T	uc003hcy.2	-	4	1216	c.1023T>A	c.(1021-1023)GAT>GAA	p.D341E	EPHA5_uc003hcx.2_Missense_Mutation_p.D272E|EPHA5_uc003hcz.2_Missense_Mutation_p.D341E|EPHA5_uc011cah.1_Missense_Mutation_p.D341E|EPHA5_uc011cai.1_Missense_Mutation_p.D341E|EPHA5_uc003hda.2_Missense_Mutation_p.D341E	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	341	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCTGAAATAATCCTTTTCAC	0.463000										TSP Lung(17;0.13)		
PPP3CA	5530	broad.mit.edu	37	4	102004367	102004367	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:102004367C>T	uc011cen.1	-	7	1511	c.836G>A	c.(835-837)CGA>CAA	p.R279Q	PPP3CA_uc003hvu.2_Missense_Mutation_p.R279Q|PPP3CA_uc010ilj.2_Missense_Mutation_p.R279Q|PPP3CA_uc003hvt.2_Missense_Mutation_p.R266Q|PPP3CA_uc003hvs.2_Missense_Mutation_p.R212Q|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	279	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTCGTGGGCTCGGAGTATAGA	0.428000												
ANXA5	308	broad.mit.edu	37	4	122607448	122607448	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:122607448C>T	uc003idu.3	-	2	159	c.89G>A	c.(88-90)GGC>GAC	p.G30D	ANXA5_uc003idv.3_Missense_Mutation_p.G30D|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.G30D|ANXA5_uc010inn.2_Intron|ANXA5_uc010ino.2_Missense_Mutation_p.G30D	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	30	Annexin 1.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						TTTACCCAAGCCTTTCATAGC	0.378000												
KIAA1109	84162	broad.mit.edu	37	4	123268832	123268832	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:123268832A>G	uc003ieh.2	+	74	13072	c.13027A>G	c.(13027-13029)ATG>GTG	p.M4343V	KIAA1109_uc003iem.2_Missense_Mutation_p.M699V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4343					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAATGAGCATATGACAAACAG	0.473000												
NEK1	4750	broad.mit.edu	37	4	170483003	170483003	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:170483003C>G	uc003isb.1	-	13	1612	c.1120G>C	c.(1120-1122)GAA>CAA	p.E374Q	NEK1_uc003isc.1_Missense_Mutation_p.E374Q|NEK1_uc003isd.1_Missense_Mutation_p.E374Q|NEK1_uc003ise.1_Missense_Mutation_p.E374Q|NEK1_uc003isf.1_Missense_Mutation_p.E374Q|NEK1_uc003isg.1_Missense_Mutation_p.E295Q	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	374					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TGTTTCTTTTCTTTTTCAATA	0.303000												
GPM6A	2823	broad.mit.edu	37	4	176594963	176594963	+	Silent	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr4:176594963G>T	uc003iuf.2	-	3	1059	c.255C>A	c.(253-255)ATC>ATA	p.I85I	GPM6A_uc011ckj.1_Silent_p.I78I|GPM6A_uc003iug.2_Silent_p.I85I|GPM6A_uc003iuh.2_Silent_p.I74I	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	85	Helical; (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CGATGCCGTAGATCACATACT	0.398000												
CDH18	1016	broad.mit.edu	37	5	19747254	19747254	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:19747254G>A	uc003jgc.2	-	3	697	c.320C>T	c.(319-321)ACG>ATG	p.T107M	CDH18_uc003jgd.2_Missense_Mutation_p.T107M|CDH18_uc011cnm.1_Missense_Mutation_p.T107M	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	107	Extracellular (Potential).|Cadherin 1.				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)					GATATCACCCGTGGTATCGTC	0.438000												
RXFP3	51289	broad.mit.edu	37	5	33937024	33937024	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:33937024C>T	uc003jic.1	+	1	536	c.179C>T	c.(178-180)GCG>GTG	p.A60V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	60	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCGGACGGCGCGCCGCCAGGA	0.701000												
C6	729	broad.mit.edu	37	5	41149449	41149449	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:41149449G>A	uc003jmk.2	-	17	2727	c.2517C>T	c.(2515-2517)GAC>GAT	p.D839D	C6_uc003jml.1_Silent_p.D839D	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418000												
GPR98	84059	broad.mit.edu	37	5	89943472	89943472	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:89943472G>A	uc003kju.2	+	17	3276	c.3180G>A	c.(3178-3180)ACG>ACA	p.T1060T	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1060	Calx-beta 8.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAGAAACGCTCATTTTTG	0.413000												
TTC37	9652	broad.mit.edu	37	5	94803591	94803591	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:94803591T>G	uc003klb.2	-	42	4869	c.4599A>C	c.(4597-4599)AAA>AAC	p.K1533N		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1533							binding			ovary(3)|pancreas(1)	4						CATAGTCATCTTTGGCATATA	0.358000												
PCDHA2	56146	broad.mit.edu	37	5	140176666	140176666	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:140176666C>T	uc003lhd.2	+	1	2223	c.2117C>T	c.(2116-2118)GCG>GTG	p.A706V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A706V|PCDHA2_uc011czy.1_Missense_Mutation_p.A706V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTATCCAGC	0.692000												
FAT2	2196	broad.mit.edu	37	5	150932811	150932811	+	Silent	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:150932811C>T	uc003lue.3	-	5	4096	c.4083G>A	c.(4081-4083)ACG>ACA	p.T1361T	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1361	Extracellular (Potential).|Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACAGGGTCCGTCTCCATGA	0.587000												
TNXB	7148	broad.mit.edu	37	6	32017144	32017144	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:32017144G>A	uc003nzl.2	-	28	9856	c.9654C>T	c.(9652-9654)ACC>ACT	p.T3218T	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3265	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGCCCCCCACGGTGACCTCGC	0.692000												
KIFC1	3833	broad.mit.edu	37	6	33373998	33373998	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:33373998G>T	uc003oef.3	+	8	2012	c.1562G>T	c.(1561-1563)CGC>CTC	p.R521L	KIFC1_uc011drf.1_Missense_Mutation_p.R513L	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	521	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CATCTGGCCCGCCAGAATCGG	0.552000												
DNAH8	1769	broad.mit.edu	37	6	38747759	38747759	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:38747759T>A	uc003ooe.1	+	13	2006	c.1406T>A	c.(1405-1407)ATT>AAT	p.I469N		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGCTGAACATTCCCTGTCTG	0.343000												
SLC35B2	347734	broad.mit.edu	37	6	44224424	44224424	+	Missense_Mutation	SNP	G	G	T	rs142335642		TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:44224424G>T	uc003oxd.2	-	2	339	c.203C>A	c.(202-204)ACC>AAC	p.T68N	SLC35B2_uc011dvt.1_Missense_Mutation_p.P23T|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	68					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCACACACCGGTCTCCAGGTA	0.557000												
TDRD6	221400	broad.mit.edu	37	6	46656738	46656738	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:46656738G>A	uc003oyj.2	+	1	873	c.873G>A	c.(871-873)ACG>ACA	p.T291T	TDRD6_uc010jze.2_Silent_p.T285T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	291					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			GGGGTTCCACGGGGACAGGGG	0.637000												
HTR1B	3351	broad.mit.edu	37	6	78172800	78172800	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:78172800G>A	uc003pil.1	-	1	321	c.321C>T	c.(319-321)ACC>ACT	p.T107T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	107	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CAGTGTACATGGTGCTGATGG	0.602000												
SIM1	6492	broad.mit.edu	37	6	100895235	100895235	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:100895235C>T	uc003pqj.3	-	8	1114	c.907G>A	c.(907-909)GGC>AGC	p.G303S	SIM1_uc010kcu.2_Missense_Mutation_p.G303S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	303	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CATACCCAGCCGCCGTGTTTC	0.587000												
LAMA4	3910	broad.mit.edu	37	6	112460383	112460383	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:112460383C>T	uc003pvu.2	-	24	3530	c.3221G>A	c.(3220-3222)CGC>CAC	p.R1074H	LAMA4_uc003pvv.2_Missense_Mutation_p.R1067H|LAMA4_uc003pvt.2_Missense_Mutation_p.R1067H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1074	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATGTCAAAGCGAGTCACCTG	0.473000												
HSF2	3298	broad.mit.edu	37	6	122733900	122733900	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:122733900T>G	uc003pyu.2	+	3	508	c.321T>G	c.(319-321)ATT>ATG	p.I107M	HSF2_uc003pyt.3_Missense_Mutation_p.I107M|HSF2_uc003pyv.2_Missense_Mutation_p.I107M	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	107	By similarity.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGGAGAACATTAAAAGGAAGG	0.393000												
TMEM200A	114801	broad.mit.edu	37	6	130762455	130762455	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:130762455T>G	uc003qca.2	+	3	1759	c.888T>G	c.(886-888)AAT>AAG	p.N296K	TMEM200A_uc010kfh.2_Missense_Mutation_p.N296K|TMEM200A_uc010kfi.2_Missense_Mutation_p.N296K|TMEM200A_uc003qcb.2_Missense_Mutation_p.N296K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	296	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCAAACTTAATAACTGTGTTA	0.398000												
THBS2	7058	broad.mit.edu	37	6	169637779	169637779	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:169637779G>C	uc003qwt.2	-	9	1489	c.1241C>G	c.(1240-1242)ACC>AGC	p.T414S		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	414	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCAAGCAGGTGTTGCTGGT	0.662000												
MUC17	140453	broad.mit.edu	37	7	100685100	100685100	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:100685100C>T	uc003uxp.1	+	3	10456	c.10403C>T	c.(10402-10404)ACG>ATG	p.T3468M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3468	Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAGTACCACGCCGGTGGCC	0.493000												
PPP1R3A	5506	broad.mit.edu	37	7	113519431	113519431	+	Silent	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:113519431G>T	uc010ljy.1	-	4	1747	c.1716C>A	c.(1714-1716)ATC>ATA	p.I572I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	572					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CCCGGGTGGGGATTGCGGTAT	0.473000												
CTTNBP2	83992	broad.mit.edu	37	7	117432339	117432339	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:117432339G>A	uc003vjf.2	-	4	1003	c.911C>T	c.(910-912)TCT>TTT	p.S304F		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	304										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCATGCAACAGACCTTGTCAC	0.473000												
CNTNAP2	26047	broad.mit.edu	37	7	146471395	146471395	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:146471395C>A	uc003weu.1	+	2	646	c.130C>A	c.(130-132)CCC>ACC	p.P44T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	44	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTGGACTCCCCCATGTGGC	0.443000										HNSCC(39;0.1)		
RBM33	155435	broad.mit.edu	37	7	155530991	155530991	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr7:155530991G>A	uc010lqk.1	+	11	1999	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N	RBM33_uc011kvv.1_Missense_Mutation_p.S353N	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	544	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTGCACTTTAGCCAGCCTGGG	0.612000												
FAM110B	90362	broad.mit.edu	37	8	59059489	59059489	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr8:59059489G>A	uc003xtj.1	+	5	1580	c.700G>A	c.(700-702)GCC>ACC	p.A234T		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	234						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGCAGCCATCGCCTCCATGAA	0.612000												
PKIA	5569	broad.mit.edu	37	8	79510750	79510750	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr8:79510750G>A	uc003yba.2	+	3	655	c.131G>A	c.(130-132)GGT>GAT	p.G44D	PKIA_uc003ybb.2_Missense_Mutation_p.G44D|PKIA_uc010lzo.2_Missense_Mutation_p.G44D	NM_006823	NP_006814	P61925	IPKA_HUMAN	cAMP-dependent protein kinase inhibitor alpha	44							cAMP-dependent protein kinase inhibitor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAATTAGCAGGTCTTGATATC	0.398000												
CNGB3	54714	broad.mit.edu	37	8	87641191	87641191	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr8:87641191A>G	uc003ydx.2	-	12	1482	c.1436T>C	c.(1435-1437)GTT>GCT	p.V479A	CNGB3_uc010maj.2_Missense_Mutation_p.V341A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	479	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						CCAAGTCCGAACTCGCTTTTG	0.423000												
LINGO2	158038	broad.mit.edu	37	9	27950155	27950155	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:27950155G>T	uc003zqu.1	-	2	709	c.515C>A	c.(514-516)GCA>GAA	p.A172E	LINGO2_uc010mjf.1_Missense_Mutation_p.A172E|LINGO2_uc003zqv.1_Missense_Mutation_p.A172E	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	172	LRR 5.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCCACTGAATGCCCTGTGTGA	0.453000												
TLN1	7094	broad.mit.edu	37	9	35697858	35697858	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:35697858C>T	uc003zxt.2	-	57	7910	c.7556G>A	c.(7555-7557)CGG>CAG	p.R2519Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2519	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTTTCTTCCGCGCCTCTTC	0.527000											OREG0019174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OMD	4958	broad.mit.edu	37	9	95179787	95179787	+	Silent	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:95179787T>C	uc004asd.3	-	2	423	c.54A>G	c.(52-54)GTA>GTG	p.V18V	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	osteomodulin precursor	18					cell adhesion	proteinaceous extracellular matrix				ovary(2)	2						ATTGGCAATGTACTTTGACTC	0.343000			T	USP6	aneurysmal bone cysts							
FOXE1	2304	broad.mit.edu	37	9	100616561	100616561	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:100616561G>A	uc004axu.2	+	1	1025	c.365G>A	c.(364-366)GGT>GAT	p.G122D		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	122	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				GGCCGCCCGGGTAAGGGCAAC	0.637000												
SMC2	10592	broad.mit.edu	37	9	106874035	106874035	+	Silent	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:106874035T>C	uc004bbv.2	+	10	1482	c.1194T>C	c.(1192-1194)CTT>CTC	p.L398L	SMC2_uc004bbu.1_Silent_p.L398L|SMC2_uc004bbw.2_Silent_p.L398L|SMC2_uc011lvl.1_Silent_p.L398L|SMC2_uc010mtg.1_Silent_p.L253L|SMC2_uc010mth.1_Silent_p.L348L|SMC2_uc004bbx.2_Silent_p.L398L	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	398	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						AAGCAACTCTTGCTGGTCAAA	0.423000												
OR13C4	138804	broad.mit.edu	37	9	107289406	107289406	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:107289406C>T	uc011lvn.1	-	1	85	c.85G>A	c.(85-87)GCT>ACT	p.A29T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGAATCAGAGCAAAGAAAATG	0.408000												
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:109688314T>G	uc004bcz.2	+	3	2410	c.2121T>G	c.(2119-2121)ATT>ATG	p.I707M	ZNF462_uc010mto.2_Missense_Mutation_p.I555M|ZNF462_uc004bda.2_Missense_Mutation_p.I555M	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGAGCAAAATTAACCAAACCA	0.458000												
OR1L1	26737	broad.mit.edu	37	9	125424622	125424622	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:125424622C>G	uc011lza.1	+	1	778	c.778C>G	c.(778-780)CCG>GCG	p.P260A		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	260	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CATAATGACCCCGTTTTCATG	0.413000												
SPTAN1	6709	broad.mit.edu	37	9	131353779	131353779	+	Silent	SNP	C	C	T	rs117332241	by1000genomes	TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:131353779C>T	uc004bvl.3	+	22	3143	c.3030C>T	c.(3028-3030)AAC>AAT	p.N1010N	SPTAN1_uc011mbg.1_Silent_p.N1010N|SPTAN1_uc011mbh.1_Silent_p.N1022N|SPTAN1_uc004bvm.3_Silent_p.N1010N|SPTAN1_uc004bvn.3_Silent_p.N1010N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1010	SH3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGAAGTGAACGATCGTCAGG	0.517000												
NUP188	23511	broad.mit.edu	37	9	131764194	131764194	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr9:131764194C>T	uc004bws.1	+	36	4098	c.4076C>T	c.(4075-4077)ACC>ATC	p.T1359I	NUP188_uc004bwu.2_Missense_Mutation_p.T702I	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1359					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GCTGGCATCACCCAGAGCATT	0.607000												
PTCHD1	139411	broad.mit.edu	37	X	23411150	23411150	+	Silent	SNP	T	T	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:23411150T>A	uc004dal.3	+	3	1523	c.1515T>A	c.(1513-1515)GTT>GTA	p.V505V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	505	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						CTTTTGTAGTTCTCTTTTACC	0.428000												
HDAC6	10013	broad.mit.edu	37	X	48678618	48678618	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:48678618C>A	uc011mmi.1	+	23	2388	c.2293C>A	c.(2293-2295)CTG>ATG	p.L765M	HDAC6_uc004dks.1_Missense_Mutation_p.L765M|HDAC6_uc010nig.1_Missense_Mutation_p.L613M|HDAC6_uc004dkt.1_Missense_Mutation_p.L765M|HDAC6_uc011mmk.1_Missense_Mutation_p.L746M|HDAC6_uc004dkv.1_Missense_Mutation_p.L413M|HDAC6_uc004dkw.1_Missense_Mutation_p.L413M|HDAC6_uc004dkx.1_Missense_Mutation_p.L128M	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	765	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	CCTCACCCACCTGCTGATGGG	0.587000												
KDM5C	8242	broad.mit.edu	37	X	53241008	53241008	+	Silent	SNP	G	G	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:53241008G>A	uc004drz.2	-	9	1736	c.1203C>T	c.(1201-1203)GCC>GCT	p.A401A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A334A|KDM5C_uc004dsa.2_Silent_p.A400A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	401					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TAAAGGAGTCGGCCATCTCGC	0.527000			N|F|S		clear cell renal carcinoma							
AR	367	broad.mit.edu	37	X	66863123	66863123	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:66863123T>G	uc004dwu.1	+	2	2757	c.1642T>G	c.(1642-1644)TTG>GTG	p.L548V	AR_uc011mpd.1_Missense_Mutation_p.L548V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L548V|AR_uc004dwv.1_Missense_Mutation_p.L16V	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	547	Modulating.		L -> F (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGACCATGTTTTGCCCATTGA	0.473000									Androgen_Insensitivity_Syndrome			
COL4A6	1288	broad.mit.edu	37	X	107413932	107413932	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:107413932C>A	uc004enw.3	-	35	3506	c.3403G>T	c.(3403-3405)GCC>TCC	p.A1135S	COL4A6_uc004env.3_Missense_Mutation_p.A1134S|COL4A6_uc011msn.1_Missense_Mutation_p.A1134S|COL4A6_uc010npk.2_Missense_Mutation_p.A1134S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1135	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CTCATGCCGGCAACTCCTGGA	0.493000									Alport_syndrome_with_Diffuse_Leiomyomatosis			
IGSF1	3547	broad.mit.edu	37	X	130410118	130410118	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:130410118C>T	uc004ewd.2	-	15	2951	c.2713G>A	c.(2713-2715)GCC>ACC	p.A905T	IGSF1_uc004ewe.3_Missense_Mutation_p.A899T|IGSF1_uc004ewf.2_Missense_Mutation_p.A885T	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	905	Extracellular (Potential).|Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGCAAGAGGGCGAACCTCATG	0.577000												
SLITRK2	84631	broad.mit.edu	37	X	144904389	144904389	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chrX:144904389T>C	uc004fcd.2	+	5	1436	c.446T>C	c.(445-447)ATC>ACC	p.I149T	SLITRK2_uc010nsp.2_Missense_Mutation_p.I149T|SLITRK2_uc010nso.2_Missense_Mutation_p.I149T|SLITRK2_uc011mwq.1_Missense_Mutation_p.I149T|SLITRK2_uc011mwr.1_Missense_Mutation_p.I149T|SLITRK2_uc011mws.1_Missense_Mutation_p.I149T|SLITRK2_uc004fcg.2_Missense_Mutation_p.I149T|SLITRK2_uc011mwt.1_Missense_Mutation_p.I149T	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	149	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGTGCCATCGAGGCTGGG	0.498000												
ATM	472	broad.mit.edu	37	11	108216477	108216478	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr11:108216477_108216478delAA	uc001pkb.1	+	58	8811_8812	c.8426_8427delAA	c.(8425-8427)CAAfs	p.Q2809fs	ATM_uc009yxr.1_Frame_Shift_Del_p.Q2809fs|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Frame_Shift_Del_p.Q1461fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2809	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGGAGGTGCAAAAAAAGTCTT	0.243			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
ITPR2	3709	broad.mit.edu	37	12	26580960	26580961	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:26580960_26580961insAT	uc001rhg.2	-	49	7247_7248	c.6830_6831insAT	c.(6829-6831)ATGfs	p.M2277fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.M428fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2277	Helical; (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGAAAAACAGCATAGATGTGCA	0.376												
ZNF227	7770	broad.mit.edu	37	19	44740730	44740730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr19:44740730delA	uc002oyu.2	+	6	2352	c.2147delA	c.(2146-2148)CATfs	p.H716fs	ZNF227_uc010xwu.1_Frame_Shift_Del_p.H665fs|ZNF227_uc002oyv.2_Frame_Shift_Del_p.H716fs|ZNF227_uc010xwv.1_Frame_Shift_Del_p.H665fs|ZNF227_uc010xww.1_Frame_Shift_Del_p.H637fs|ZNF227_uc002oyw.2_Frame_Shift_Del_p.H688fs|ZNF227_uc010ejh.2_Frame_Shift_Del_p.H709fs|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	716	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GAGAAACCCCATATATGTGAG	0.473												
CDH10	1008	broad.mit.edu	37	5	24492978	24492979	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:24492978_24492979insC	uc003jgr.1	-	10	1903_1904	c.1571_1572insG	c.(1570-1572)TTTfs	p.F524fs	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	524	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AACTGAAAAAAAATTTCTGTCC	0.322										HNSCC(23;0.051)		
CDH10	1008	broad.mit.edu	37	5	24492979	24492980	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr5:24492978_24492979A>AC	uc003jgr.2	-	9	2077_2078	c.1571_1572T>GT	c.(1570-1572)tttfs	p.F524fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K523N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AACTGAAAAAAAATTTCTGTCC	0.322										HNSCC(23;0.051)		
CUL9	23113	broad.mit.edu	37	6	43183962	43183964	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr6:43183961_43183963AAGT>A	uc003ouk.3	+	30	6077_6079	c.6002_6004AAGT>A	c.(6001-6006)gaagta>gAta	p.2001_2002EV>D	CUL9_uc003oul.3_In_Frame_Del_p.1973_1974EV>D|CUL9_uc010jyk.3_In_Frame_Del_p.1153_1154EV>D|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2001					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCCCCAGGAAGTAGAAGGGTT	0.586												
ITPR2	3709	broad.mit.edu	37	12	26580961	26580962	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-HU-8249-01A-11D-2340-08	TCGA-HU-8249-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc66601-8435-48f1-a89a-f3aeeb3f6781	ba8142ed-40ef-4968-a4d9-38e6f5a15008	g.chr12:26580960_26580961C>CAT	uc001rhg.3	-	48	7247_7248	c.6830_6831G>ATG	c.(6829-6831)atgfs	p.M2277fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.M428fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2277					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAAAAACAGCATAGATGTGCA	0.376