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
CSMD2	114784	broad.mit.edu	37	1	34008458	34008458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:34008458G>A	uc001bxn.1	-	57	8736	c.8707C>T	c.(8707-8709)CGA>TGA	p.R2903*	CSMD2_uc001bxm.1_Nonsense_Mutation_p.R3047*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2903	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACACAACTCGGGCATTACTT	0.512												
NDUFS5	4725	broad.mit.edu	37	1	39500125	39500125	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:39500125C>G	uc001ccx.2	+	3	349	c.278C>G	c.(277-279)ACC>AGC	p.T93S	NDUFS5_uc001ccy.2_Missense_Mutation_p.T93S	NM_004552	NP_004543	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5,	93					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	GGAAAGTACACCCCTCCACCT	0.512												
SYT6	148281	broad.mit.edu	37	1	114682479	114682479	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:114682479G>C	uc001eev.2	-	2	265	c.15C>G	c.(13-15)AAC>AAG	p.N5K		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	90	Cytoplasmic (Potential).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCTCCTTGTTCCTCCAGG	0.572												
SETDB1	9869	broad.mit.edu	37	1	150900360	150900361	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:150900360_150900361GC>AA	uc001evu.2	+	2	360_361	c.170_171GC>AA	c.(169-171)CGC>CAA	p.R57Q	SETDB1_uc009wmf.2_Missense_Mutation_p.R57Q|SETDB1_uc001evv.2_Missense_Mutation_p.R57Q|SETDB1_uc001evw.3_Missense_Mutation_p.R57Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R57Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	57	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTACAGCAACGCAAGAAGCAGC	0.48												
TCHH	7062	broad.mit.edu	37	1	152080373	152080373	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:152080373G>A	uc001ezp.2	-	2	5320	c.5320C>T	c.(5320-5322)CGC>TGC	p.R1774C	TCHH_uc009wne.1_Missense_Mutation_p.R1774C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1774	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCGCGGAATTTTCTG	0.597												
LMNA	4000	broad.mit.edu	37	1	156106743	156106743	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:156106743G>A	uc001fni.2	+	8	1661	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	LMNA_uc001fnf.1_Missense_Mutation_p.R471H|LMNA_uc001fng.2_Missense_Mutation_p.R471H|LMNA_uc001fnh.2_Missense_Mutation_p.R471H|LMNA_uc009wro.1_Missense_Mutation_p.R471H|LMNA_uc010pgz.1_Missense_Mutation_p.R359H|LMNA_uc001fnj.2_Missense_Mutation_p.R390H|LMNA_uc001fnk.2_Missense_Mutation_p.R372H|LMNA_uc009wrp.2_3'UTR|LMNA_uc010pha.1_Missense_Mutation_p.R127H	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	471	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					CAGATCAAGCGCCAGAATGGA	0.582									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome			
OR10T2	128360	broad.mit.edu	37	1	158368662	158368662	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:158368662C>A	uc010pih.1	-	1	595	c.595G>T	c.(595-597)GCT>TCT	p.A199S		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTAAATAAAGCCAGCTCTTTC	0.448												
ADCY10	55811	broad.mit.edu	37	1	167847720	167847720	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:167847720C>A	uc001ger.2	-	12	1668	c.1370G>T	c.(1369-1371)GGA>GTA	p.G457V	ADCY10_uc009wvk.2_Missense_Mutation_p.G365V|ADCY10_uc010plj.1_Missense_Mutation_p.G304V|ADCY10_uc009wvl.2_Missense_Mutation_p.G456V	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	457					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						ATACAATGGTCCAGAATCTGC	0.403												
C1orf156	92342	broad.mit.edu	37	1	169762816	169762816	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:169762816G>A	uc001ggn.2	-	2	299	c.21C>T	c.(19-21)TTC>TTT	p.F7F	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	7						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCTATAGTGAAATTAAACT	0.358												
ASTN1	460	broad.mit.edu	37	1	176926896	176926896	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:176926896C>T	uc001glc.2	-	11	2017	c.1805G>A	c.(1804-1806)CGC>CAC	p.R602H	ASTN1_uc001glb.1_Missense_Mutation_p.R602H|ASTN1_uc001gld.1_Missense_Mutation_p.R602H|ASTN1_uc009wwx.1_Missense_Mutation_p.R602H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	610	EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GCTGCAGTCGCGCACCGGCCC	0.552												
PGBD5	79605	broad.mit.edu	37	1	230472930	230472930	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:230472930C>T	uc010pwb.1	-	4	792	c.792G>A	c.(790-792)GCG>GCA	p.A264A	PGBD5_uc001htv.2_Silent_p.A363A	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	264						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCTTGCCTGCCGCGTTCCGGC	0.577												
RYR2	6262	broad.mit.edu	37	1	237586436	237586436	+	Missense_Mutation	SNP	G	G	A	rs35041432		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:237586436G>A	uc001hyl.1	+	12	1013	c.893G>A	c.(892-894)CGC>CAC	p.R298H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	298	Cytoplasmic (By similarity).|MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCGACTACGCCATGTCACA	0.428												
RYR2	6262	broad.mit.edu	37	1	237947447	237947447	+	Silent	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:237947447C>A	uc001hyl.1	+	90	12555	c.12435C>A	c.(12433-12435)ATC>ATA	p.I4145I	RYR2_uc010pya.1_Silent_p.I560I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4145					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAAACGCATCGAGAGGGTCT	0.498												
OR2M3	127062	broad.mit.edu	37	1	248367138	248367138	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr1:248367138T>G	uc010pzg.1	+	1	769	c.769T>G	c.(769-771)TTC>GTC	p.F257V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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;0.0245)			AGCAGCTTTGTTCATGTACAT	0.493												
CALML3	810	broad.mit.edu	37	10	5567124	5567124	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:5567124G>A	uc001iie.1	+	1	201	c.76G>A	c.(76-78)GGC>AGC	p.G26S	uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	calmodulin-like 3	26	1.|EF-hand 1.						calcium ion binding				0						GGATGGGGACGGCTGCATCAC	0.652												
GDF2	2658	broad.mit.edu	37	10	48413661	48413661	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:48413661C>T	uc001jfa.1	-	2	1370	c.1207G>A	c.(1207-1209)GTC>ATC	p.V403I		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	403					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						TTGTAGAGGACGGAGATGGGG	0.597												
MAPK8	5599	broad.mit.edu	37	10	49635141	49635141	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:49635141G>A	uc009xnz.2	+	10	1239	c.1015G>A	c.(1015-1017)GAC>AAC	p.D339N	MAPK8_uc001jgl.2_Missense_Mutation_p.D339N|MAPK8_uc001jgm.2_Missense_Mutation_p.D339N|MAPK8_uc001jgo.2_Missense_Mutation_p.D339N|MAPK8_uc009xoa.2_Missense_Mutation_p.D263N|MAPK8_uc001jgn.2_Missense_Mutation_p.D339N|MAPK8_uc010qgk.1_Missense_Mutation_p.D339N|MAPK8_uc001jgp.2_Missense_Mutation_p.D339N|MAPK8_uc001jgq.2_Missense_Mutation_p.D339N	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	339					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAAGATCCCTGACAAGCAGTT	0.388												
C10orf54	64115	broad.mit.edu	37	10	73521515	73521515	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:73521515G>A	uc001jsd.2	-	2	492	c.351C>T	c.(349-351)CAC>CAT	p.H117H	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Translation_Start_Site|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Silent_p.H117H	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	117	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ACTCCAGCCCGTGGCGCTGAG	0.652												
ZCCHC24	219654	broad.mit.edu	37	10	81146112	81146112	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:81146112G>A	uc001kak.2	-	4	902	c.715C>T	c.(715-717)CGC>TGC	p.R239C	ZCCHC24_uc010qlr.1_Missense_Mutation_p.S179L|ZCCHC24_uc009xrw.2_RNA	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	239							nucleic acid binding|zinc ion binding			breast(1)	1						CACTGCACGCGACGGCAGTAG	0.701												
NRG3	10718	broad.mit.edu	37	10	83635660	83635660	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:83635660G>A	uc001kco.2	+	1	591	c.564G>A	c.(562-564)GCG>GCA	p.A188A	NRG3_uc010qlz.1_Silent_p.A188A|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	188	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGAACACTGCGGCCCCTGCGA	0.716												
FAM22D	728130	broad.mit.edu	37	10	89118032	89118032	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:89118032G>A	uc001kes.2	+	1	556	c.10G>A	c.(10-12)GAA>AAA	p.E4K	FAM22D_uc009xte.1_Missense_Mutation_p.E4K	NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	hypothetical protein LOC728130	4											0						TATGTTCCAGGAACCTGTTTA	0.532												
SORCS1	114815	broad.mit.edu	37	10	108923823	108923823	+	Silent	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr10:108923823C>A	uc001kym.2	-	1	470	c.462G>T	c.(460-462)CGG>CGT	p.R154R	SORCS1_uc001kyl.2_Silent_p.R154R|SORCS1_uc009xxs.2_Silent_p.R154R|SORCS1_uc001kyn.1_Silent_p.R154R|SORCS1_uc001kyo.2_Silent_p.R154R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	154	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTCCTCCATCCGGAAGCGGG	0.652												
BBOX1	8424	broad.mit.edu	37	11	27148884	27148884	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:27148884C>G	uc001mre.1	+	9	1416	c.1048C>G	c.(1048-1050)CGT>GGT	p.R350G	BBOX1_uc009yih.1_Missense_Mutation_p.R350G|BBOX1_uc001mrg.1_Missense_Mutation_p.R350G	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	350					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGCCGACGTAGCTATGA	0.413												
OR4C13	283092	broad.mit.edu	37	11	49974634	49974634	+	Silent	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:49974634G>T	uc010rhz.1	+	1	660	c.660G>T	c.(658-660)CTG>CTT	p.L220L		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TGGTCATACTGTACTCCTTAA	0.483												
SSRP1	6749	broad.mit.edu	37	11	57099148	57099148	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:57099148A>G	uc001njt.2	-	9	1484	c.1217T>C	c.(1216-1218)ATT>ACT	p.I406T		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	406					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						TCACCTCTCAATGCTGCTGAA	0.532												
OR5B12	390191	broad.mit.edu	37	11	58206946	58206946	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:58206946G>A	uc010rkh.1	-	1	679	c.679C>T	c.(679-681)CGC>TGC	p.R227C		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGGTGAGCGCATCTTCATG	0.403												
C11orf2	738	broad.mit.edu	37	11	64876186	64876186	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:64876186C>T	uc001ocr.1	+	5	1283	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	C11orf2_uc001ocs.1_Missense_Mutation_p.R291W	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	415					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						GCAGGGTCTCCGGGCGGCCTT	0.741												
TYR	7299	broad.mit.edu	37	11	88961040	88961040	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:88961040G>A	uc001pcs.2	+	3	1168	c.1086G>A	c.(1084-1086)ATG>ATA	p.M362I		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	362	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAAGCAGCATGCACAATGCCT	0.393									Oculocutaneous_Albinism			
MMP7	4316	broad.mit.edu	37	11	102395690	102395690	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:102395690C>T	uc001phb.2	-	4	637	c.590G>A	c.(589-591)CGC>CAC	p.R197H	MMP7_uc009yxd.2_Missense_Mutation_p.R197H	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	197					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATCCGTCCAGCGTTCATCCTC	0.478												
BCO2	83875	broad.mit.edu	37	11	112070509	112070509	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:112070509C>T	uc001pnf.2	+	6	941	c.824C>T	c.(823-825)GCT>GTT	p.A275V	BCO2_uc001pne.1_Missense_Mutation_p.A102V|BCO2_uc001png.2_Missense_Mutation_p.A202V|BCO2_uc001pnh.2_Missense_Mutation_p.A241V|BCO2_uc010rwt.1_Missense_Mutation_p.A170V|BCO2_uc009yyn.2_Missense_Mutation_p.A241V|BCO2_uc001pni.2_Missense_Mutation_p.A241V	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	275					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGTTCTATTGCTTCTACAGAG	0.443												
PPFIBP1	8496	broad.mit.edu	37	12	27841317	27841317	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:27841317G>A	uc001ric.1	+	25	2852	c.2475G>A	c.(2473-2475)GCG>GCA	p.A825A	PPFIBP1_uc010sjr.1_Silent_p.A656A|PPFIBP1_uc001rib.1_Silent_p.A819A|PPFIBP1_uc001ria.2_Silent_p.A794A|PPFIBP1_uc001rid.1_Silent_p.A672A|PPFIBP1_uc001rif.1_Silent_p.A332A	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					CAGAATATGCGCCCAATCTCA	0.473												
IGFBP6	3489	broad.mit.edu	37	12	53495871	53495871	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:53495871G>A	uc001sbu.1	+	4	709	c.643G>A	c.(643-645)GTG>ATG	p.V215M	SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	215	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					ovary(1)	1						CTGCTGGTGTGTGGATCGGAT	0.637												
CAPS2	84698	broad.mit.edu	37	12	75693618	75693618	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:75693618G>A	uc001sxk.3	-	10	1107	c.910C>T	c.(910-912)CGT>TGT	p.R304C	CAPS2_uc001sxm.3_Missense_Mutation_p.R72C|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Nonsense_Mutation_p.R72*|CAPS2_uc001sxj.3_Nonsense_Mutation_p.R247*|CAPS2_uc001sxl.3_Missense_Mutation_p.R285C	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	304							calcium ion binding			ovary(2)	2						CACAATTACCGTGATACGATC	0.269												
NAV3	89795	broad.mit.edu	37	12	78401201	78401201	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:78401201C>T	uc001syp.2	+	8	2056	c.1883C>T	c.(1882-1884)GCG>GTG	p.A628V	NAV3_uc001syo.2_Missense_Mutation_p.A628V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	628						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CCGAATACCGCGACAGTGGCA	0.488										HNSCC(70;0.22)		
NAV3	89795	broad.mit.edu	37	12	78513089	78513089	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:78513089C>A	uc001syp.2	+	15	3286	c.3113C>A	c.(3112-3114)CCT>CAT	p.P1038H	NAV3_uc001syo.2_Missense_Mutation_p.P1038H|NAV3_uc010sub.1_Missense_Mutation_p.P538H|NAV3_uc009zsf.2_Missense_Mutation_p.P46H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1038	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAAAGATCTCCTTCAGATGCA	0.433										HNSCC(70;0.22)		
C12orf12	196477	broad.mit.edu	37	12	91347392	91347392	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr12:91347392C>A	uc001tbj.2	-	1	1562	c.1128G>T	c.(1126-1128)GAG>GAT	p.E376D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	376	Glu-rich.									central_nervous_system(1)|pancreas(1)	2						TTATAAAGTTCTCTCTCTTTT	0.418												
SGCG	6445	broad.mit.edu	37	13	23777913	23777913	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr13:23777913G>T	uc001uom.2	+	2	235	c.80G>T	c.(79-81)GGC>GTC	p.G27V	SGCG_uc009zzv.2_Missense_Mutation_p.G27V|SGCG_uc009zzw.2_Missense_Mutation_p.G27V	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	27	Cytoplasmic (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TACAAAATTGGCATTTATGGC	0.438												
EDNRB	1910	broad.mit.edu	37	13	78477310	78477310	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr13:78477310T>G	uc001vko.2	-	3	1040	c.782A>C	c.(781-783)CAG>CCG	p.Q261P	EDNRB_uc001vkq.1_Missense_Mutation_p.Q261P|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.Q261P|EDNRB_uc001vkp.1_Missense_Mutation_p.Q344P	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	261	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGCTGTCTTCTGAACGGGATG	0.403												
DNAJC3	5611	broad.mit.edu	37	13	96416105	96416105	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr13:96416105G>A	uc001vmq.2	+	9	1081	c.973G>A	c.(973-975)GCT>ACT	p.A325T	DNAJC3_uc001vmr.2_Missense_Mutation_p.A274T	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	325	TPR 8.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCCTGTTGAAGCTATTAGGGT	0.398												
NUDT14	256281	broad.mit.edu	37	14	105643099	105643099	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr14:105643099G>A	uc010tyn.1	-	4	314	c.200C>T	c.(199-201)GCG>GTG	p.A67V	NUDT14_uc001yqi.2_RNA	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix-type motif 14	67	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACCTCACCCGCATACACAGC	0.682										HNSCC(42;0.11)		
THBS1	7057	broad.mit.edu	37	15	39879632	39879632	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr15:39879632G>A	uc001zkh.2	+	8	1384	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	THBS1_uc010bbi.2_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	402	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATTCAGCAGCGCGGCCGCTCC	0.582												
ACAN	176	broad.mit.edu	37	15	89401508	89401508	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr15:89401508C>T	uc010upo.1	+	12	6066	c.5692C>T	c.(5692-5694)CCA>TCA	p.P1898S	ACAN_uc010upp.1_Missense_Mutation_p.P1898S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1898					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGGCCTACCAAGTGGCAT	0.517												
COQ7	10229	broad.mit.edu	37	16	19083427	19083427	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr16:19083427A>G	uc002dfr.2	+	2	311	c.251A>G	c.(250-252)CAG>CGG	p.Q84R	COQ7_uc002dfs.2_Missense_Mutation_p.Q70R	NM_016138	NP_057222	Q99807	COQ7_HUMAN	COQ7 protein	84	1.|2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			skin(1)	1						CCAGTCATTCAGGTGGGTGCT	0.498											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JPH3	57338	broad.mit.edu	37	16	87678214	87678214	+	Missense_Mutation	SNP	C	C	T	rs142136496		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr16:87678214C>T	uc002fkd.2	+	2	987	c.733C>T	c.(733-735)CGC>TGC	p.R245C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	245	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GAGCTCCTTTCGCAGCGAGGC	0.662												
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH10	4628	broad.mit.edu	37	17	8526399	8526399	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:8526399C>T	uc002gll.2	-	2	262	c.166G>A	c.(166-168)GAT>AAT	p.D56N	MYH10_uc002glm.2_Missense_Mutation_p.D56N|MYH10_uc010cnx.2_Missense_Mutation_p.D56N	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	56	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATAACTTCATCTCCCCGTTCT	0.448												
MYH1	4619	broad.mit.edu	37	17	10399670	10399670	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:10399670A>G	uc002gmo.2	-	34	4947	c.4853T>C	c.(4852-4854)CTC>CCC	p.L1618P	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1618	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CTTCTTCTTGAGCCTAATGGC	0.493												
MYH3	4621	broad.mit.edu	37	17	10545981	10545981	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:10545981G>A	uc002gmq.1	-	15	1718	c.1641C>T	c.(1639-1641)ACC>ACT	p.T547T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	547	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCTTGAAGGAGGTGTCTGTTG	0.507												
DUSP14	11072	broad.mit.edu	37	17	35872423	35872423	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:35872423C>T	uc002hnx.2	+	3	343	c.49C>T	c.(49-51)CGG>TGG	p.R17W	DUSP14_uc002hny.2_Missense_Mutation_p.R4W|DUSP14_uc002hnz.2_Missense_Mutation_p.R4W	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)				CATGGCCCCTCGGATGATTTC	0.567												
GPR179	440435	broad.mit.edu	37	17	36495312	36495312	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:36495312G>A	uc002hpz.2	-	2	912	c.891C>T	c.(889-891)CTC>CTT	p.L297L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	297	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGTGCTGTTGAGATCACACA	0.582												
PLCD3	113026	broad.mit.edu	37	17	43192475	43192475	+	Silent	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:43192475G>T	uc002iib.2	-	11	1812	c.1698C>A	c.(1696-1698)CTC>CTA	p.L566L		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	566	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	CCTCCCGAATGAGTTTCTTGG	0.652												
NUP85	79902	broad.mit.edu	37	17	73227457	73227457	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:73227457T>C	uc002jng.1	+	12	1377	c.1117T>C	c.(1117-1119)TTT>CTT	p.F373L	NUP85_uc010dgd.1_Missense_Mutation_p.F328L|NUP85_uc010wrv.1_Missense_Mutation_p.F327L|NUP85_uc002jnh.1_5'UTR	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	373					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAACTGGTGGTTTGTGGCCCA	0.572												
UNC13D	201294	broad.mit.edu	37	17	73838569	73838569	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:73838569G>A	uc002jpp.2	-	6	894	c.514C>T	c.(514-516)CGC>TGC	p.R172C	UNC13D_uc010wsk.1_Missense_Mutation_p.R172C|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	172	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGCGTGCGGTGGGTCTCC	0.657									Familial_Hemophagocytic_Lymphohistiocytosis			
CYTH1	9267	broad.mit.edu	37	17	76677070	76677070	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:76677070C>T	uc002jvw.2	-	11	1014	c.943G>A	c.(943-945)GAG>AAG	p.E315K	CYTH1_uc010wtv.1_RNA	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	316	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						TTGGAGTCCTCCACTTCCCGG	0.393												
CSNK1D	1453	broad.mit.edu	37	17	80209374	80209374	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:80209374G>A	uc002kej.2	-	6	1082	c.766C>T	c.(766-768)CGT>TGT	p.R256C	SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.R256C|CSNK1D_uc002kei.2_Missense_Mutation_p.R256C|CSNK1D_uc010wvj.1_Missense_Mutation_p.R53C|CSNK1D_uc010dil.2_RNA|CSNK1D_uc002keh.2_Missense_Mutation_p.R121C|CSNK1D_uc010dim.1_Missense_Mutation_p.R53C	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	256	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGCAAGGAACGGCAGAAATTC	0.498												
ZNF750	79755	broad.mit.edu	37	17	80789023	80789023	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:80789023C>T	uc002kga.2	-	2	1619	c.1308G>A	c.(1306-1308)AAG>AAA	p.K436K	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	436						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGAGGCTGCCTTGTTGGAGA	0.632												
LAMA3	3909	broad.mit.edu	37	18	21422634	21422634	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr18:21422634G>A	uc002kuq.2	+	29	3609	c.3523G>A	c.(3523-3525)GAA>AAA	p.E1175K	LAMA3_uc002kur.2_Missense_Mutation_p.E1175K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1175	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGATTGCCGAAGGCCAGAT	0.537												
TCEB3B	51224	broad.mit.edu	37	18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr18:44561290C>T	uc002lcr.1	-	1	699	c.346G>A	c.(346-348)GCG>ACG	p.A116T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	116					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGGGCCGTCGCGTTTTCTGGG	0.662												
ACTL9	284382	broad.mit.edu	37	19	8808509	8808509	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:8808509C>T	uc002mkl.2	-	1	664	c.543G>A	c.(541-543)TCG>TCA	p.S181S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	181						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CAGACAGCACCGACTGCGATG	0.657												
MUC16	94025	broad.mit.edu	37	19	9015690	9015690	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:9015690C>T	uc002mkp.2	-	29	38337	c.38133G>A	c.(38131-38133)AAG>AAA	p.K12711K	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTCCTCGTACTTCAGGTTGG	0.517												
PRX	57716	broad.mit.edu	37	19	40900469	40900469	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:40900469G>T	uc002onr.2	-	7	4059	c.3790C>A	c.(3790-3792)CAG>AAG	p.Q1264K	PRX_uc002onq.2_Missense_Mutation_p.Q1125K|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1264					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGGGGGCTGCTCCTCAGCA	0.711												
ZNF284	342909	broad.mit.edu	37	19	44590963	44590963	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:44590963G>T	uc002oyg.1	+	5	1548	c.1332G>T	c.(1330-1332)TTG>TTT	p.L444F	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	444	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				ATCTTGACTTGCACCAGAGGG	0.433												
ZNF613	79898	broad.mit.edu	37	19	52448840	52448840	+	Silent	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:52448840T>G	uc002pxz.1	+	6	2127	c.1704T>G	c.(1702-1704)TCT>TCG	p.S568S	ZNF613_uc002pya.1_Silent_p.S532S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ATAAAGACTCTGTTAACATGG	0.443												
TTYH1	57348	broad.mit.edu	37	19	54930476	54930476	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:54930476G>A	uc002qfq.2	+	2	393	c.301G>A	c.(301-303)GGC>AGC	p.G101S	TTYH1_uc010yey.1_Missense_Mutation_p.G150S|TTYH1_uc002qfr.2_Missense_Mutation_p.G101S|TTYH1_uc002qft.2_Missense_Mutation_p.G101S|TTYH1_uc002qfu.1_5'UTR	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	101	Helical; Name=2; (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCTTCTCGCCGGCTGGTAATG	0.716												
SBK2	646643	broad.mit.edu	37	19	56041244	56041244	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:56041244G>A	uc010ygc.1	-	3	903	c.903C>T	c.(901-903)GAC>GAT	p.D301D		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0						GCAGAAGCGCGTCGGCCGCGG	0.746												
ZNF446	55663	broad.mit.edu	37	19	58989053	58989053	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:58989053C>G	uc002qsz.2	+	3	509	c.392C>G	c.(391-393)ACA>AGA	p.T131R	ZNF446_uc002qta.2_Missense_Mutation_p.T131R|ZNF446_uc010eur.2_Missense_Mutation_p.T131R	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	131					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCCAGAAGACAGAGGAACCA	0.607												
NTSR2	23620	broad.mit.edu	37	2	11800223	11800223	+	Missense_Mutation	SNP	G	G	A	rs139725500		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:11800223G>A	uc002rbq.3	-	3	1009	c.935C>T	c.(934-936)CCG>CTG	p.P312L		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	312	Helical; Name=6; (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GGCATGGTACGGCAGCCAGCA	0.562												
SNX17	9784	broad.mit.edu	37	2	27598553	27598553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:27598553C>T	uc002rkg.1	+	10	1177	c.955C>T	c.(955-957)CGA>TGA	p.R319*	SNX17_uc010ylj.1_Nonsense_Mutation_p.R299*|SNX17_uc010ylk.1_Nonsense_Mutation_p.R105*|SNX17_uc010eza.1_Nonsense_Mutation_p.R105*|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Nonsense_Mutation_p.R105*|SNX17_uc010yll.1_Nonsense_Mutation_p.R105*|SNX17_uc010ylm.1_Nonsense_Mutation_p.R105*|SNX17_uc010yln.1_Nonsense_Mutation_p.R307*|SNX17_uc010ylo.1_Nonsense_Mutation_p.R237*|SNX17_uc010ylp.1_Nonsense_Mutation_p.R294*|SNX17_uc010ylq.1_Nonsense_Mutation_p.R105*	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	319					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCCGCATGCGATGCTGGCG	0.672												
LTBP1	4052	broad.mit.edu	37	2	33589410	33589410	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:33589410G>A	uc002ros.2	+	30	4530	c.4530G>A	c.(4528-4530)CCG>CCA	p.P1510P	LTBP1_uc002rot.2_Silent_p.P1184P|LTBP1_uc002rou.2_Silent_p.P1183P|LTBP1_uc002rov.2_Silent_p.P1130P|LTBP1_uc010ymz.1_Silent_p.P1141P|LTBP1_uc010yna.1_Silent_p.P1088P|LTBP1_uc010ynb.1_Silent_p.P407P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1509					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTATACGACCGGCTGAGTCAA	0.403												
PEX13	5194	broad.mit.edu	37	2	61259050	61259050	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:61259050C>T	uc002sau.3	+	2	672	c.589C>T	c.(589-591)CGG>TGG	p.R197W		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	197	Targeting to peroxisomes.|Lumenal (Potential).				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ACGGCTACAGCGGATGTTAGG	0.453												
GYPC	2995	broad.mit.edu	37	2	127413868	127413868	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:127413868C>T	uc002tnq.2	+	1	185	c.29C>T	c.(28-30)ACG>ATG	p.T10M	GYPC_uc002tnr.2_Missense_Mutation_p.T10M|GYPC_uc010flv.2_RNA|GYPC_uc010flw.1_Missense_Mutation_p.T10M	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	10	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		CCCAACAGCACGGCGTGGCCT	0.637												
LRP1B	53353	broad.mit.edu	37	2	141243057	141243057	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:141243057C>T	uc002tvj.1	-	59	10252	c.9280G>A	c.(9280-9282)GTC>ATC	p.V3094I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3094	Extracellular (Potential).|LDL-receptor class B 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCAATCGACAGCAAGTGCA	0.378										TSP Lung(27;0.18)		
GALNT13	114805	broad.mit.edu	37	2	155115621	155115621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:155115621G>A	uc002tyr.3	+	8	1512	c.945G>A	c.(943-945)TGG>TGA	p.W315*	GALNT13_uc002tyt.3_Nonsense_Mutation_p.W315*|GALNT13_uc010foc.1_Nonsense_Mutation_p.W134*|GALNT13_uc010fod.2_Nonsense_Mutation_p.W68*	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	315	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TGGATATCTGGGGTGGAGAGA	0.383												
SCN1A	6323	broad.mit.edu	37	2	166848014	166848014	+	Missense_Mutation	SNP	C	C	T	rs3749029		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:166848014C>T	uc010zcz.1	-	26	5756	c.5738G>A	c.(5737-5739)CGT>CAT	p.R1913H		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1924						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGTAAGCACGCTGAATAAT	0.388												
TTN	7273	broad.mit.edu	37	2	179473038	179473038	+	Silent	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:179473038C>G	uc010zfg.1	-	224	45092	c.44868G>C	c.(44866-44868)CTG>CTC	p.L14956L	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L8651L|TTN_uc010zfi.1_Silent_p.L8584L|TTN_uc010zfj.1_Silent_p.L8459L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15883							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)			TCAAGGCATTCAGAAGGCTTT	0.428												
TTN	7273	broad.mit.edu	37	2	179482698	179482698	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:179482698C>T	uc010zfg.1	-	202	39900	c.39676G>A	c.(39676-39678)GTC>ATC	p.V13226I	TTN_uc010zfh.1_Missense_Mutation_p.V6921I|TTN_uc010zfi.1_Missense_Mutation_p.V6854I|TTN_uc010zfj.1_Missense_Mutation_p.V6729I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14153							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)			AATTCAATGACGTAGTTTGTG	0.453												
TTN	7273	broad.mit.edu	37	2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:179640548C>T	uc010zfg.1	-	28	6267	c.6043G>A	c.(6043-6045)GCT>ACT	p.A2015T	TTN_uc010zfh.1_Missense_Mutation_p.A1969T|TTN_uc010zfi.1_Missense_Mutation_p.A1969T|TTN_uc010zfj.1_Missense_Mutation_p.A1969T|TTN_uc002unb.2_Missense_Mutation_p.A2015T|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2015							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)			AGCTCCACAGCGGTAATGGCT	0.453												
ERBB4	2066	broad.mit.edu	37	2	212251665	212251665	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:212251665G>A	uc002veg.1	-	27	3492	c.3394C>T	c.(3394-3396)CCC>TCC	p.P1132S	ERBB4_uc002veh.1_Missense_Mutation_p.P1116S|ERBB4_uc010zji.1_Missense_Mutation_p.P1122S|ERBB4_uc010zjj.1_Missense_Mutation_p.P1106S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1132	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AACACGGTGGGGTCAGCACTG	0.532										TSP Lung(8;0.080)		
SMARCAL1	50485	broad.mit.edu	37	2	217297484	217297484	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:217297484A>G	uc002vgc.3	+	8	1708	c.1378A>G	c.(1378-1380)ATG>GTG	p.M460V	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.M460V|SMARCAL1_uc010fvg.2_Missense_Mutation_p.M460V	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	460	Helicase ATP-binding.|ATP (By similarity).				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGCTGACGACATGGGCCTGGG	0.602									Schimke_Immuno-Osseous_Dysplasia			
PTPRN	5798	broad.mit.edu	37	2	220162661	220162661	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:220162661G>A	uc002vkz.2	-	13	1922	c.1833C>T	c.(1831-1833)CGC>CGT	p.R611R	PTPRN_uc010zlc.1_Silent_p.R521R|PTPRN_uc002vla.2_Silent_p.R582R	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	611	Cytoplasmic (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGCTGCCAGGCGCTCCTTGT	0.642												
ARMC9	80210	broad.mit.edu	37	2	232141438	232141438	+	Missense_Mutation	SNP	C	C	T	rs116712981	byFrequency	TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:232141438C>T	uc002vrq.3	+	15	1536	c.1424C>T	c.(1423-1425)ACG>ATG	p.T475M	ARMC9_uc002vrp.3_Missense_Mutation_p.T475M|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	475							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCTGACTACACGCTGGAGTAC	0.562												
UGT1A10	54575	broad.mit.edu	37	2	234545590	234545590	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:234545590C>A	uc002vur.2	+	1	468	c.422C>A	c.(421-423)TCT>TAT	p.S141Y	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.S141Y	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	141					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)|skin(1)	3		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGAGAGTTCTTTTGATGCA	0.373												
KLHL30	377007	broad.mit.edu	37	2	239049766	239049766	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:239049766G>A	uc002vxr.1	+	1	350	c.317G>A	c.(316-318)CGC>CAC	p.R106H		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	124											0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTCTGCGGCCGCTACCTGCAG	0.677												
NEURL2	140825	broad.mit.edu	37	20	44519149	44519149	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr20:44519149C>T	uc002xqg.1	-	1	753	c.482G>A	c.(481-483)GGC>GAC	p.G161D	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	161	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				CCGGCTGCGGCCCACCAGGCG	0.672												
ZBTB46	140685	broad.mit.edu	37	20	62421650	62421650	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr20:62421650G>A	uc002ygv.1	-	2	662	c.461C>T	c.(460-462)ACG>ATG	p.T154M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GAGAGCTTCCGTGCTGCTGCT	0.632												
OLIG2	10215	broad.mit.edu	37	21	34399314	34399314	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr21:34399314G>A	uc002yqx.1	+	2	302	c.144G>A	c.(142-144)CCG>CCA	p.P48P		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	48						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GTGACTGCCCGCCGGAGCTGA	0.682			T	TRA@	T-ALL							
SMARCB1	6598	broad.mit.edu	37	22	24135750	24135750	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr22:24135750C>T	uc002zyb.2	+	3	444	c.237C>T	c.(235-237)CAC>CAT	p.H79H	SMARCB1_uc002zyg.2_Silent_p.H79H|SMARCB1_uc011ajb.1_Silent_p.H70H|SMARCB1_uc002zya.2_Silent_p.H79H|SMARCB1_uc002zyc.2_Silent_p.H70H|SMARCB1_uc002zyd.2_Silent_p.H70H|SMARCB1_uc002zye.1_Silent_p.H42H|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	79					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
ELFN2	114794	broad.mit.edu	37	22	37770469	37770469	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr22:37770469C>T	uc003asq.3	-	3	1892	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	369	Fibronectin type-III.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GTGGTTGAAGCGGCGGCTGTT	0.617												
SCN5A	6331	broad.mit.edu	37	3	38651357	38651357	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:38651357C>T	uc003cio.2	-	7	996	c.802G>A	c.(802-804)GGC>AGC	p.G268S	SCN5A_uc003cin.2_Missense_Mutation_p.G268S|SCN5A_uc003cil.3_Missense_Mutation_p.G268S|SCN5A_uc010hhi.2_Missense_Mutation_p.G268S|SCN5A_uc010hhk.2_Missense_Mutation_p.G268S|SCN5A_uc011ayr.1_Missense_Mutation_p.G268S|SCN5A_uc010hhl.1_Missense_Mutation_p.G91S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	268	Helical; Name=S5 of repeat I; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGCTGCAGGCCGATGAGGGCA	0.602												
GRM2	2912	broad.mit.edu	37	3	51749144	51749144	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:51749144G>A	uc010hlv.2	+	4	1594	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	452	Extracellular (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)	GGTATTGGCCGCTACAACATC	0.577												
SFMBT1	51460	broad.mit.edu	37	3	52946639	52946639	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:52946639C>T	uc003dgf.2	-	17	2214	c.1645G>A	c.(1645-1647)GCC>ACC	p.A549T	SFMBT1_uc010hmr.2_Missense_Mutation_p.A496T|SFMBT1_uc003dgg.2_Missense_Mutation_p.A549T|SFMBT1_uc003dgh.2_Missense_Mutation_p.A549T	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	549					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGTTTGTAGGCTGCATTGATA	0.478												
SENP7	57337	broad.mit.edu	37	3	101062557	101062557	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:101062557T>G	uc003dut.2	-	14	2190	c.2079A>C	c.(2077-2079)GAA>GAC	p.E693D	SENP7_uc003duu.2_Missense_Mutation_p.E628D|SENP7_uc003duv.2_Missense_Mutation_p.E660D|SENP7_uc003duw.2_Missense_Mutation_p.E627D|SENP7_uc003dux.2_Missense_Mutation_p.E529D	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	693					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						GCTTCATTTCTTCAGCAACAG	0.353												
SEC61A1	29927	broad.mit.edu	37	3	127785877	127785877	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:127785877G>A	uc003ekb.2	+	9	1042	c.858G>A	c.(856-858)ACG>ACA	p.T286T	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.T233T|SEC61A1_uc003ekd.2_Silent_p.T166T|SEC61A1_uc003ekg.2_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	286	Cytoplasmic (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TCTTCTATACGTCCAACATCC	0.547												
SEC61A1	29927	broad.mit.edu	37	3	127785925	127785925	+	Silent	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:127785925T>C	uc003ekb.2	+	9	1090	c.906T>C	c.(904-906)TAT>TAC	p.Y302Y	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Silent_p.Y249Y|SEC61A1_uc003ekd.2_Silent_p.Y182Y|SEC61A1_uc003ekg.2_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	302	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						CCAACCTTTATGTCATCTCCC	0.542												
MRPS22	56945	broad.mit.edu	37	3	139067023	139067023	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr3:139067023G>A	uc003etb.2	+	3	369	c.361G>A	c.(361-363)GCA>ACA	p.A121T	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.A120T|MRPS22_uc003ete.2_Missense_Mutation_p.A80T	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	121						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GGCAGTTGAGGCAGCTAAAGT	0.358												
ZNF595	152687	broad.mit.edu	37	4	60009	60009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:60009C>A	uc003fzv.1	+	3	345	c.189C>A	c.(187-189)TGC>TGA	p.C63*	ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Nonsense_Mutation_p.Y63*|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	63					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AAGAGCCCTGCAATTTGAAGA	0.458												
PDE6B	5158	broad.mit.edu	37	4	619713	619713	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:619713C>T	uc003gap.2	+	1	351	c.298C>T	c.(298-300)CGC>TGC	p.R100C	PDE6B_uc003gao.3_Missense_Mutation_p.R100C	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	100	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GTACCGCCAGCGCAACGGCGT	0.672												
CPLX1	10815	broad.mit.edu	37	4	780405	780405	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:780405G>A	uc003gbi.2	-	4	480	c.289C>T	c.(289-291)CCC>TCC	p.P97S	CPLX1_uc003gbj.2_Missense_Mutation_p.P76S	NM_006651	NP_006642	O14810	CPLX1_HUMAN	complexin 1	97					glutamate secretion	cytosol					0				Colorectal(103;0.187)		GCCTTCTTGGGCCGCGTCAAG	0.697												
TLR1	7096	broad.mit.edu	37	4	38799339	38799339	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:38799339T>C	uc003gtl.2	-	4	1388	c.1114A>G	c.(1114-1116)ACT>GCT	p.T372A		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	372	Extracellular (Potential).|LRR 6.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TCCAACTCAGTAAGGTGCCCA	0.363												
POLR2B	5431	broad.mit.edu	37	4	57873014	57873014	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:57873014T>A	uc003hcl.1	+	10	1293	c.1250T>A	c.(1249-1251)ATC>AAC	p.I417N	POLR2B_uc011cae.1_Missense_Mutation_p.I410N|POLR2B_uc011caf.1_Missense_Mutation_p.I342N|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	417					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					GAAGTGCGGATCTATGCACAG	0.333												
FAM13A	10144	broad.mit.edu	37	4	89912232	89912232	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:89912232C>T	uc003hse.1	-	4	705	c.497G>A	c.(496-498)TGC>TAC	p.C166Y	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.C166Y|FAM13A_uc003hsj.2_Missense_Mutation_p.C166Y	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	166	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CTTGAGGAGGCAGTAGTGGGT	0.408												
COL25A1	84570	broad.mit.edu	37	4	109841761	109841761	+	Splice_Site	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:109841761C>T	uc003hze.1	-	11	1240	c.709_splice	c.e11-1	p.G237_splice	COL25A1_uc003hzg.2_Splice_Site_p.G237_splice|COL25A1_uc003hzd.2_Splice_Site|COL25A1_uc003hzf.2_Splice_Site_p.G18_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTAGAGGACCCTAAAAAAGAA	0.368												
SEC24B	10427	broad.mit.edu	37	4	110437729	110437729	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:110437729T>A	uc003hzk.2	+	11	2114	c.2059T>A	c.(2059-2061)TCT>ACT	p.S687T	SEC24B_uc003hzl.2_Missense_Mutation_p.S652T|SEC24B_uc011cfp.1_Missense_Mutation_p.S717T|SEC24B_uc011cfq.1_Missense_Mutation_p.S686T|SEC24B_uc011cfr.1_Missense_Mutation_p.S651T	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	687					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTTAGATGTGTCTCATAATGC	0.318												
C4orf31	79625	broad.mit.edu	37	4	121966864	121966864	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:121966864C>T	uc003idq.1	-	2	656	c.129G>A	c.(127-129)TCG>TCA	p.S43S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	43											0						GAATTACTGACGAATCATGAA	0.428												
TRPC3	7222	broad.mit.edu	37	4	122853759	122853759	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:122853759G>A	uc003ieg.2	-	2	728	c.654C>T	c.(652-654)GAC>GAT	p.D218D	TRPC3_uc010inr.2_Silent_p.D145D|TRPC3_uc003ief.2_Silent_p.D145D|TRPC3_uc011cgl.1_Translation_Start_Site	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	133	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CGTAGAAGTCGTCGTCCTGCA	0.627												
PCDH10	57575	broad.mit.edu	37	4	134072543	134072543	+	Silent	SNP	T	T	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:134072543T>A	uc003iha.2	+	1	2074	c.1248T>A	c.(1246-1248)GTT>GTA	p.V416V	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.V416V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	416	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACACCATCGTTACCGAAGCCC	0.607												
PCDH10	57575	broad.mit.edu	37	4	134073243	134073243	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:134073243C>A	uc003iha.2	+	1	2774	c.1948C>A	c.(1948-1950)CCC>ACC	p.P650T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P650T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	650	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAAGCGCGACCCCCAGCGGCC	0.662												
CTSO	1519	broad.mit.edu	37	4	156849542	156849542	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:156849542T>C	uc003ipg.2	-	7	926	c.877A>G	c.(877-879)AGT>GGT	p.S293G		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	293					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCAAGAACTTCCCCAGGAA	0.348												
NEIL3	55247	broad.mit.edu	37	4	178231192	178231192	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:178231192G>A	uc003iut.2	+	1	202	c.85G>A	c.(85-87)GGA>AGA	p.G29R	NEIL3_uc010irs.2_5'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	29					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CGGCGTGCGGGGAAGCGCTCT	0.672								BER_DNA_glycosylases				
CLDN22	53842	broad.mit.edu	37	4	184240855	184240855	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:184240855C>T	uc010isa.1	-	1	1073	c.517G>A	c.(517-519)GGA>AGA	p.G173R	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	173	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGAGAAAGTCCAGCAAACCAG	0.587												
KCNN2	3781	broad.mit.edu	37	5	113699632	113699632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:113699632C>A	uc003kqo.2	+	2	973	c.516C>A	c.(514-516)TGC>TGA	p.C172*		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	172	Helical; Name=Segment S2; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTCTGAAATGCCTTATCAGTC	0.483												
MEGF10	84466	broad.mit.edu	37	5	126754837	126754837	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:126754837C>G	uc003kuh.3	+	12	1693	c.1331C>G	c.(1330-1332)CCT>CGT	p.P444R	MEGF10_uc010jdc.1_Missense_Mutation_p.P444R|MEGF10_uc010jdd.1_Missense_Mutation_p.P444R|MEGF10_uc003kui.3_Missense_Mutation_p.P444R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	444	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCCCATGCCCTCTGGGAACC	0.448												
TGFBI	7045	broad.mit.edu	37	5	135391437	135391437	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:135391437G>A	uc003lbf.3	+	11	1640	c.1479G>A	c.(1477-1479)ACG>ACA	p.T493T	TGFBI_uc003lbg.3_Silent_p.T226T|TGFBI_uc003lbh.3_Silent_p.T319T|TGFBI_uc011cyb.1_Silent_p.T319T|TGFBI_uc010jed.2_Silent_p.T226T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	493	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTGTTCACGATGGACCGGG	0.572												
PCDHA12	56137	broad.mit.edu	37	5	140256590	140256590	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:140256590C>T	uc003lic.2	+	1	1660	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.H511H	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	511	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTGCACGCGGAGAGCG	0.706												
PCDHAC1	56135	broad.mit.edu	37	5	140308104	140308104	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:140308104T>G	uc003lih.2	+	1	1803	c.1627T>G	c.(1627-1629)TTG>GTG	p.L543V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L543V	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	543	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTATAAACTTGTTTGTGGT	0.478												
PCDHB2	56133	broad.mit.edu	37	5	140475135	140475135	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:140475135C>T	uc003lil.2	+	1	899	c.761C>T	c.(760-762)CCG>CTG	p.P254L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	254	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCAGATCCCGGAGGACAGC	0.517												
POU4F3	5459	broad.mit.edu	37	5	145719186	145719186	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:145719186G>A	uc003loa.2	+	2	285	c.196G>A	c.(196-198)GTC>ATC	p.V66I		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	66					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGATATCGTCTCCCACGG	0.602												
HIST1H4H	8365	broad.mit.edu	37	6	26285677	26285677	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:26285677C>A	uc003nhm.2	-	1	51	c.51G>T	c.(49-51)AAG>AAT	p.K17N	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	17					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						TGCGATGACGCTTAGCTCCTC	0.507										HNSCC(76;0.23)		
OR2W1	26692	broad.mit.edu	37	6	29012625	29012625	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:29012625C>T	uc003nlw.2	-	1	328	c.328G>A	c.(328-330)GTT>ATT	p.V110I		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						AGGCACTCAACTGAGCCCAAC	0.433												
C6orf153	88745	broad.mit.edu	37	6	42995125	42995125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:42995125C>T	uc003otp.1	+	6	561	c.553C>T	c.(553-555)CGA>TGA	p.R185*		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	185	Potential.				ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACAGCAGGAACGAAAGCAACA	0.532												
RCAN2	10231	broad.mit.edu	37	6	46190976	46190976	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:46190976C>T	uc003oyb.1	-	4	811	c.496G>A	c.(496-498)GAC>AAC	p.D166N	RCAN2_uc003oyc.1_Missense_Mutation_p.D212N|RCAN2_uc003oyd.1_Missense_Mutation_p.D212N	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	166					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						ATGTCACTGTCGCACACGTGC	0.537												
PKHD1	5314	broad.mit.edu	37	6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:51913367G>A	uc003pah.1	-	23	2606	c.2330C>T	c.(2329-2331)ACG>ATG	p.T777M	PKHD1_uc003pai.2_Missense_Mutation_p.T777M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	777	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527												
TMEM30A	55754	broad.mit.edu	37	6	75968636	75968636	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:75968636C>T	uc003phw.2	-	6	1030	c.752G>A	c.(751-753)GGA>GAA	p.G251E	TMEM30A_uc003phx.2_Missense_Mutation_p.G215E	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	251						integral to membrane					0						ATTTATGAATCCATTATTATC	0.388												
ASCC3	10973	broad.mit.edu	37	6	101076966	101076966	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:101076966C>A	uc003pqk.2	-	27	4629	c.4300G>T	c.(4300-4302)GTC>TTC	p.V1434F		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1434	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTCTGCTGACTCCATCCCAC	0.453												
FIG4	9896	broad.mit.edu	37	6	110048334	110048334	+	Silent	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:110048334C>G	uc003ptt.2	+	4	527	c.312C>G	c.(310-312)GGC>GGG	p.G104G	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	104					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCTTAGAAGGCTATTATATTG	0.323												
HIVEP2	3097	broad.mit.edu	37	6	143092978	143092978	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:143092978G>C	uc003qjd.2	-	5	3641	c.2898C>G	c.(2896-2898)AGC>AGG	p.S966R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	966	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTGGCTGGGGCTGCGGGAGA	0.512												
STX11	8676	broad.mit.edu	37	6	144508051	144508051	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:144508051G>A	uc003qks.3	+	2	479	c.287G>A	c.(286-288)CGG>CAG	p.R96Q		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	96				RG -> PP (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ATCAAGGCCCGGGGCGAGGTC	0.677									Familial_Hemophagocytic_Lymphohistiocytosis			
MAP3K4	4216	broad.mit.edu	37	6	161512447	161512447	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr6:161512447G>A	uc003qtn.2	+	12	3152	c.3010G>A	c.(3010-3012)GCC>ACC	p.A1004T	MAP3K4_uc010kkc.1_Missense_Mutation_p.A1004T|MAP3K4_uc003qto.2_Missense_Mutation_p.A1004T|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A457T|MAP3K4_uc003qtp.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1004					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GATAAGCAATGCCATTGACCG	0.398												
SDK1	221935	broad.mit.edu	37	7	4188957	4188957	+	Missense_Mutation	SNP	G	G	A	rs141114121		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:4188957G>A	uc003smx.2	+	30	4626	c.4487G>A	c.(4486-4488)CGG>CAG	p.R1496Q	SDK1_uc010kso.2_Missense_Mutation_p.R772Q|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1496	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCAGCCTCCGGCTCCAGTGG	0.672												
SLC29A4	222962	broad.mit.edu	37	7	5327609	5327609	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:5327609G>A	uc003sod.2	+	2	323	c.162G>A	c.(160-162)ACG>ACA	p.T54T	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.T54T|SLC29A4_uc003soe.2_Silent_p.T54T	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	54	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CAGCTTTCACGGATACTAGTA	0.647												
CCDC129	223075	broad.mit.edu	37	7	31682400	31682400	+	Silent	SNP	G	G	A	rs146986060		TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:31682400G>A	uc003tcj.1	+	11	2409	c.1416G>A	c.(1414-1416)TCG>TCA	p.S472S	CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc011kae.1_Silent_p.S498S|CCDC129_uc003tck.1_Silent_p.S380S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	472											0						AGCTAGAGTCGGATGGGCCAG	0.502												
GRB10	2887	broad.mit.edu	37	7	50737431	50737431	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:50737431G>A	uc003tpi.2	-	4	523	c.492C>T	c.(490-492)GCC>GCT	p.A164A	GRB10_uc003tph.3_Silent_p.A106A|GRB10_uc003tpj.2_Silent_p.A164A|GRB10_uc003tpk.2_Silent_p.A164A|GRB10_uc010kzb.2_Silent_p.A106A|GRB10_uc003tpl.2_Silent_p.A158A|GRB10_uc003tpm.2_Silent_p.A106A|GRB10_uc003tpn.2_Silent_p.A106A	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	164					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					GCTTTGCGGCGGCCTGGCTCG	0.587									Russell-Silver_syndrome			
FZD1	8321	broad.mit.edu	37	7	90895618	90895618	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:90895618G>A	uc003ula.2	+	1	1836	c.1423G>A	c.(1423-1425)GGA>AGA	p.G475R		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	475	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGTGCTGAGCGGAGTGTGCTT	0.622												
ABP1	26	broad.mit.edu	37	7	150557647	150557647	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr7:150557647C>T	uc003why.1	+	5	6133	c.1915C>T	c.(1915-1917)CAC>TAC	p.H639Y	ABP1_uc003whz.1_Missense_Mutation_p.H639Y|ABP1_uc003wia.1_Missense_Mutation_p.H658Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	639					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CAGCATCTACCACCAGAACGA	0.617												
CSMD1	64478	broad.mit.edu	37	8	3855478	3855478	+	Silent	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:3855478T>C	uc011kwk.1	-	5	1155	c.765A>G	c.(763-765)CTA>CTG	p.L255L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	255	Extracellular (Potential).|CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCCTTCTTCTAGCTGAAAGT	0.522												
TUSC3	7991	broad.mit.edu	37	8	15480610	15480610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:15480610G>T	uc003wwt.2	+	2	370	c.160G>T	c.(160-162)GAG>TAG	p.E54*	TUSC3_uc003wwr.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wws.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwu.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwv.2_Nonsense_Mutation_p.E54*|TUSC3_uc003www.2_Nonsense_Mutation_p.E54*|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Nonsense_Mutation_p.E54*	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	54					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TGAAAAAGTAGAGCAGCTGAT	0.333												
ADRA1A	148	broad.mit.edu	37	8	26721669	26721669	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:26721669G>A	uc003xfh.1	-	1	1254	c.818C>T	c.(817-819)ACG>ATG	p.T273M	ADRA1A_uc003xfc.1_Missense_Mutation_p.T273M|ADRA1A_uc010lul.1_Missense_Mutation_p.T273M|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.T273M|ADRA1A_uc010lum.1_Missense_Mutation_p.T273M|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.T273M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	273	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GATGCCCAGCGTTTTGGCCGC	0.582												
ZNF395	55893	broad.mit.edu	37	8	28206254	28206254	+	Silent	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:28206254G>A	uc003xgq.2	-	10	1612	c.1524C>T	c.(1522-1524)TGC>TGT	p.C508C	ZNF395_uc003xgt.2_Silent_p.C508C|ZNF395_uc003xgr.2_Silent_p.C508C|ZNF395_uc003xgs.2_Silent_p.C508C	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	508					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAAGCGCTGGCAGGCCTTCT	0.627												
UNC5D	137970	broad.mit.edu	37	8	35588560	35588560	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:35588560T>A	uc003xjr.1	+	11	2040	c.1712T>A	c.(1711-1713)ATC>AAC	p.I571N	UNC5D_uc003xjs.1_Missense_Mutation_p.I566N|UNC5D_uc003xju.1_Missense_Mutation_p.I147N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	571	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACGGTGCCATCCCAGAGGAG	0.378												
ZMAT4	79698	broad.mit.edu	37	8	40554921	40554921	+	Splice_Site	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:40554921C>T	uc003xnr.2	-	4	339	c.193_splice	c.e4-1	p.G65_splice	ZMAT4_uc003xns.2_Splice_Site_p.G65_splice	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a							nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CATCACTTCCCTGCGCAGGGA	0.453												
SNTG1	54212	broad.mit.edu	37	8	51571221	51571221	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:51571221A>T	uc010lxy.1	+	16	1407	c.1036A>T	c.(1036-1038)AAG>TAG	p.K346*	SNTG1_uc003xqs.1_Nonsense_Mutation_p.K346*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.K346*|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAAGATCCTCAAGGTATGATC	0.368												
SDCBP	6386	broad.mit.edu	37	8	59484832	59484832	+	Missense_Mutation	SNP	C	C	T	rs144425100	byFrequency	TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:59484832C>T	uc003xtn.2	+	4	349	c.199C>T	c.(199-201)CGT>TGT	p.R67C	SDCBP_uc003xto.2_Missense_Mutation_p.R67C|SDCBP_uc003xtr.2_Missense_Mutation_p.R67C|SDCBP_uc003xtp.2_Missense_Mutation_p.R61C|SDCBP_uc003xtq.2_Missense_Mutation_p.R67C|SDCBP_uc003xts.2_Missense_Mutation_p.R74C|SDCBP_uc011led.1_Missense_Mutation_p.R67C	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	67					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGAAGAAATACGTGCAAATGT	0.338												
TRIM55	84675	broad.mit.edu	37	8	67040664	67040664	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:67040664C>A	uc003xvv.2	+	2	520	c.294C>A	c.(292-294)AAC>AAA	p.N98K	TRIM55_uc003xvu.2_Missense_Mutation_p.N98K|TRIM55_uc003xvw.2_Missense_Mutation_p.N98K|TRIM55_uc003xvx.2_Missense_Mutation_p.N98K	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	98						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCAGAGGAACCTGCTGGTGG	0.488												
C8orf34	116328	broad.mit.edu	37	8	69621266	69621266	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:69621266T>C	uc010lyz.2	+	9	1070	c.1021T>C	c.(1021-1023)TCA>CCA	p.S341P	C8orf34_uc003xyb.2_Missense_Mutation_p.S316P	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	341					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GACAGAAGAGTCACTACCAAT	0.333												
XKR9	389668	broad.mit.edu	37	8	71646321	71646321	+	Silent	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:71646321T>C	uc003xyq.2	+	5	1318	c.784T>C	c.(784-786)TTA>CTA	p.L262L	XKR9_uc010lze.2_Silent_p.L262L|XKR9_uc010lzd.2_Silent_p.L130L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related	262	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TATGGAATTCTTATATAGGAT	0.284												
ATAD2	29028	broad.mit.edu	37	8	124371477	124371477	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:124371477T>C	uc003yqh.3	-	11	1474	c.1366A>G	c.(1366-1368)AAA>GAA	p.K456E	ATAD2_uc011lii.1_Missense_Mutation_p.K247E|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.K456E	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTTGAATTTTAAATTTTTCA	0.323												
BNC2	54796	broad.mit.edu	37	9	16435946	16435946	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:16435946C>T	uc003zml.2	-	6	2386	c.2246G>A	c.(2245-2247)AGT>AAT	p.S749N	BNC2_uc011lmw.1_Missense_Mutation_p.S654N|BNC2_uc003zmm.2_Missense_Mutation_p.S707N|BNC2_uc003zmq.1_Missense_Mutation_p.S763N|BNC2_uc003zmr.1_Missense_Mutation_p.S786N|BNC2_uc003zmp.1_Missense_Mutation_p.S777N|BNC2_uc010mij.1_Missense_Mutation_p.S671N|BNC2_uc011lmv.1_Missense_Mutation_p.S575N|BNC2_uc003zmo.1_Missense_Mutation_p.S671N|BNC2_uc003zmj.2_Missense_Mutation_p.S514N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S514N|BNC2_uc003zmn.1_Missense_Mutation_p.S514N	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GACTTTTTCACTCACTTCGCT	0.512												
BNC2	54796	broad.mit.edu	37	9	16436469	16436469	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:16436469T>G	uc003zml.2	-	6	1863	c.1723A>C	c.(1723-1725)AGT>CGT	p.S575R	BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGAGTAAACTTCTATAAAAT	0.517												
APBA1	320	broad.mit.edu	37	9	72131493	72131493	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:72131493C>T	uc004ahh.2	-	2	910	c.634G>A	c.(634-636)GGC>AGC	p.G212S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	212					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AGCCGCAGGCCGTCGCGTGCG	0.716												
ASTN2	23245	broad.mit.edu	37	9	120053656	120053656	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:120053656C>A	uc004bjs.1	-	2	680	c.579G>T	c.(577-579)GAG>GAT	p.E193D	ASTN2_uc004bjr.1_Missense_Mutation_p.E193D|ASTN2_uc004bjt.1_Missense_Mutation_p.E193D	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	193	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCTCCGAGGGCTCCTGGAGAG	0.612												
TLR4	7099	broad.mit.edu	37	9	120475046	120475046	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:120475046C>G	uc004bjz.2	+	3	931	c.640C>G	c.(640-642)CCT>GCT	p.P214A	TLR4_uc004bka.2_Missense_Mutation_p.P174A|TLR4_uc004bkb.2_Missense_Mutation_p.P14A	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	214	LRR 7.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GTCCCTGAACCCTATGAACTT	0.358												
NR6A1	2649	broad.mit.edu	37	9	127298387	127298387	+	Silent	SNP	T	T	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:127298387T>C	uc004bor.1	-	7	1027	c.849A>G	c.(847-849)CTA>CTG	p.L283L	NR6A1_uc004boq.1_Silent_p.L278L|NR6A1_uc010mwq.1_Silent_p.L279L	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	283					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GCAGGGCAAATAGTTCTGCCT	0.527												
ENG	2022	broad.mit.edu	37	9	130587127	130587127	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:130587127C>T	uc004bsj.3	-	7	1356	c.943G>A	c.(943-945)GTG>ATG	p.V315M	ENG_uc011mam.1_Missense_Mutation_p.V126M|ENG_uc004bsk.3_Missense_Mutation_p.V315M	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	315	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						GGTAGCTCCACGAAGGATGCC	0.473									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
SETX	23064	broad.mit.edu	37	9	135205035	135205035	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:135205035C>A	uc004cbk.2	-	10	2133	c.1950G>T	c.(1948-1950)ATG>ATT	p.M650I	SETX_uc004cbj.2_Missense_Mutation_p.M269I|SETX_uc010mzt.2_Missense_Mutation_p.M269I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	650					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTGCACTTTCATTGGTTCTT	0.348												
KCNT1	57582	broad.mit.edu	37	9	138683644	138683644	+	Silent	SNP	C	C	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:138683644C>T	uc011mdq.1	+	30	3578	c.3504C>T	c.(3502-3504)GAC>GAT	p.D1168D	KCNT1_uc011mdr.1_Silent_p.D1016D|KCNT1_uc010nbf.2_Silent_p.D1144D	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1168						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTTGCAGACGAGATGAACG	0.642												
PNPLA7	375775	broad.mit.edu	37	9	140437937	140437937	+	Silent	SNP	G	G	A	rs139510260	byFrequency	TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr9:140437937G>A	uc004cnf.2	-	5	715	c.378C>T	c.(376-378)GAC>GAT	p.D126D	PNPLA7_uc010ncj.1_Silent_p.D151D	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AATTCTTCACGTCAAACTCCG	0.602												
SHROOM2	357	broad.mit.edu	37	X	9864517	9864517	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:9864517G>A	uc004csu.1	+	4	2659	c.2569G>A	c.(2569-2571)GCA>ACA	p.A857T		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	857					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CGCTCACAGCGCAGCGGAGAA	0.652												
PHEX	5251	broad.mit.edu	37	X	22244602	22244602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:22244602G>T	uc004dah.2	+	19	2145	c.1942G>T	c.(1942-1944)GGA>TGA	p.G648*	PHEX_uc011mjr.1_Nonsense_Mutation_p.G648*|PHEX_uc011mjs.1_Nonsense_Mutation_p.G551*	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	648					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TGCTGATAATGGAGGCCTGCG	0.418												
DMD	1756	broad.mit.edu	37	X	32490330	32490330	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:32490330A>C	uc004dda.1	-	22	3144	c.2900T>G	c.(2899-2901)CTT>CGT	p.L967R	DMD_uc004dcz.2_Missense_Mutation_p.L844R|DMD_uc004dcy.1_Missense_Mutation_p.L963R|DMD_uc004ddb.1_Missense_Mutation_p.L959R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	967	Spectrin 6.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGACACTAAGTTGAGGTAT	0.443												
ATRX	546	broad.mit.edu	37	X	76939922	76939922	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:76939922A>C	uc004ecp.3	-	9	1058	c.826T>G	c.(826-828)TTG>GTG	p.L276V	ATRX_uc004ecq.3_Missense_Mutation_p.L238V|ATRX_uc004eco.3_Missense_Mutation_p.L61V|ATRX_uc004ecr.2_Missense_Mutation_p.L237V|ATRX_uc010nlx.1_Missense_Mutation_p.L276V|ATRX_uc010nly.1_Missense_Mutation_p.L221V	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	276	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GCAGTGACCAAGTCCAACAAA	0.373			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
TRPC5	7224	broad.mit.edu	37	X	111195328	111195328	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:111195328T>G	uc004epl.1	-	2	1240	c.321A>C	c.(319-321)GAA>GAC	p.E107D	TRPC5_uc004epm.1_Missense_Mutation_p.E107D	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	107	ANK 3.|Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CGCCCACCACTTCCTTGCGTA	0.532												
ODZ1	10178	broad.mit.edu	37	X	124030034	124030034	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chrX:124030034G>T	uc004euj.2	-	2	338	c.274C>A	c.(274-276)CAC>AAC	p.H92N	ODZ1_uc011muj.1_Missense_Mutation_p.H92N|ODZ1_uc010nqy.2_Missense_Mutation_p.H92N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	92	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAAACGCTGTGCATGTCTGTT	0.468												
IQCH	64799	broad.mit.edu	37	15	67664965	67664965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr15:67664965delC	uc002aqo.1	+	9	1317	c.1270delC	c.(1270-1272)CAGfs	p.Q424fs	IQCH_uc010ujv.1_Frame_Shift_Del_p.Q243fs|IQCH_uc002aqn.1_Frame_Shift_Del_p.Q251fs|IQCH_uc002aqq.1_Frame_Shift_Del_p.Q172fs|IQCH_uc002aqp.1_Frame_Shift_Del_p.Q176fs	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	424										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		GGAATCACGTCAGAGACACCT	0.463												
GTF2F1	2962	broad.mit.edu	37	19	6380962	6380963	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr19:6380962_6380963delCC	uc002meq.2	-	11	1468_1469	c.1183_1184delGG	c.(1183-1185)GGCfs	p.G395fs	GTF2F1_uc010xjb.1_Frame_Shift_Del_p.G216fs|GTF2F1_uc010xjc.1_Frame_Shift_Del_p.G310fs	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	395					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						GGAGGTGCTGCCACCCTCTGCG	0.683												
PSME4	23198	broad.mit.edu	37	2	54120866	54120874	+	In_Frame_Del	DEL	AATGATAGA	AATGATAGA	-			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr2:54120865_54120873TAATGATAGA>T	uc002rxp.2	-	34	4032_4040	c.3976_3984TCTATCATTA>A	c.(3976-3984)ctatcatta>A	p.LSL1326del	PSME4_uc010yop.1_In_Frame_Del_p.LSL1212del|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_In_Frame_Del_p.LSL701del|PSME4_uc010fbv.1_In_Frame_Del_p.LSL470del	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1326					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTGTCTTCTAATGATAGAAAAGTAATT	0.278												
ENPP6	133121	broad.mit.edu	37	4	185074834	185074835	+	Frame_Shift_Ins	INS	-	-	GGTGG			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr4:185074833_185074834T>TGGTGG	uc003iwc.3	-	1	436_437	c.294_295A>CCACCA	c.(292-297)accaccfs	p.T98fs		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	98					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GACTTGTTGGTGGTGGGGTCCC	0.500												
C5orf28	64417	broad.mit.edu	37	5	43446368	43446370	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr5:43446367_43446369CTGG>C	uc003jny.3	-	2	746_748	c.603_605CCAG>G	c.(601-606)accaga>acGa	p.R202del	C5orf28_uc003jnv.4_In_Frame_Del_p.R202del|C5orf28_uc003jnx.3_In_Frame_Del_p.R202del	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	202						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CATCATTTGTCTGGTTCCTGTTA	0.384												
SGK223	157285	broad.mit.edu	37	8	8234511	8234517	+	Frame_Shift_Del	DEL	CTGACAC	CTGACAC	-			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr8:8234510_8234516GCTGACAC>G	uc003wsh.4	-	1	1403_1409	c.1403_1409GTGTCAGC>C	c.(1402-1410)gtgtcagccfs	p.V468fs		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	468							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGTGATGGTGGCTGACACCTGGGGAGT	0.657												
OR4C12	283093	broad.mit.edu	37	11	50003129	50003129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr11:50003128_50003128CT>C	uc010ria.2	-	0	944	c.910_910AG>G	c.(910-912)gtgfs	p.V304fs		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304fs*5(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTGAAGTCACTTTTTTTCTC	0.343												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8524-01A-11D-2340-08	TCGA-CD-8524-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e14ace57-4067-4f59-8bec-b9876d7d51e4	491cdfeb-f845-481d-8d6a-962773c82b69	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
