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
CNR2	1269	broad.mit.edu	37	1	24201571	24201571	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:24201571G>A	uc001bif.2	-	2	664	c.537C>T	c.(535-537)TGC>TGT	p.C179C		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	179	Extracellular (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	AAAGCTCAGAGCAGGGCCTGG	0.572												
SNIP1	79753	broad.mit.edu	37	1	38003393	38003393	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:38003393C>G	uc001cbi.2	-	4	1220	c.1147G>C	c.(1147-1149)GAT>CAT	p.D383H	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	383					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				TCCTCGTCATCTTTCCTGTCT	0.418												
MACF1	23499	broad.mit.edu	37	1	39749838	39749838	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:39749838A>C	uc010ois.1	+	11	1236	c.1031A>C	c.(1030-1032)CAA>CCA	p.Q344P	MACF1_uc001cda.1_Missense_Mutation_p.Q252P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	344					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTTTTCCCCAAAACCCTGTT	0.418												
SH3GLB1	51100	broad.mit.edu	37	1	87190089	87190089	+	Splice_Site	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:87190089G>C	uc001dlw.2	+	5	896	c.570_splice	c.e5+1	p.S190_splice	SH3GLB1_uc001dlx.2_Splice_Site_p.S190_splice|SH3GLB1_uc001dly.2_Splice_Site_p.S190_splice|SH3GLB1_uc001dlz.2_Splice_Site_p.S90_splice	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1						anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TAGAAATTCAGTAAGTAAATA	0.269												
PPIAL4G	644591	broad.mit.edu	37	1	143767465	143767465	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:143767465G>A	uc001ejt.2	-	1	417	c.384C>T	c.(382-384)GCC>GCT	p.A128A		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	128	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						CCTTGCCAAAGGCCACATGCT	0.488												
BCL9	607	broad.mit.edu	37	1	147095649	147095649	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:147095649G>A	uc001epq.2	+	10	3910	c.3170G>A	c.(3169-3171)GGC>GAC	p.G1057D	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1057	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CTAGGAATGGGCATTAATACA	0.378			T	IGH@|IGL@	B-ALL							
SNX27	81609	broad.mit.edu	37	1	151641106	151641106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:151641106C>T	uc001eyn.1	+	7	1160	c.1144C>T	c.(1144-1146)CAT>TAT	p.H382Y	SNX27_uc001eyo.2_Missense_Mutation_p.H289Y|SNX27_uc001eyp.2_Missense_Mutation_p.H196Y	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	382					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTACTTCTTTCATCAGGTAGG	0.308												
TCHH	7062	broad.mit.edu	37	1	152081195	152081195	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:152081195C>T	uc001ezp.2	-	2	4498	c.4498G>A	c.(4498-4500)GAC>AAC	p.D1500N	TCHH_uc009wne.1_Missense_Mutation_p.D1500N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1500	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)			AATTTTCTGTCACGCTCTTGG	0.552												
OR10J3	441911	broad.mit.edu	37	1	159284018	159284018	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:159284018T>G	uc010piu.1	-	1	432	c.432A>C	c.(430-432)CAA>CAC	p.Q144H		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)					CAGAGGCCAGTTGGATACAGG	0.517												
IVNS1ABP	10625	broad.mit.edu	37	1	185277943	185277943	+	Silent	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:185277943G>T	uc001grl.2	-	5	969	c.346C>A	c.(346-348)CGA>AGA	p.R116R	IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	116					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						TGCTTTACTCGATCCATCTTC	0.308												
IGFN1	91156	broad.mit.edu	37	1	201195075	201195075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:201195075G>A	uc001gwc.2	+	11	2862	c.2090G>A	c.(2089-2091)CGC>CAC	p.R697H	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GTGTTCACACGCTCCTCAGCG	0.662												
FMOD	2331	broad.mit.edu	37	1	203317347	203317347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:203317347C>T	uc001gzr.2	-	2	188	c.52G>A	c.(52-54)GCC>ACC	p.A18T	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	18					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCATACTGGGCCTGGGAGAGG	0.562												
ITIH5	80760	broad.mit.edu	37	10	7608346	7608346	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:7608346A>G	uc001ijq.2	-	13	2253	c.2174T>C	c.(2173-2175)ATT>ACT	p.I725T	ITIH5_uc001ijp.2_Missense_Mutation_p.I511T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	725					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GGGTGCCCCAATTAACTCTCC	0.398												
BMI1	648	broad.mit.edu	37	10	22617625	22617625	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:22617625C>G	uc001irh.2	+	8	1207	c.568C>G	c.(568-570)CAG>GAG	p.Q190E	BMI1_uc009xkg.2_Missense_Mutation_p.Q333E	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	190	Interaction with E4F1.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						TAATACTTTCCAGGTATCTAC	0.299												
STOX1	219736	broad.mit.edu	37	10	70645583	70645583	+	Silent	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:70645583C>A	uc001jos.2	+	3	2118	c.2031C>A	c.(2029-2031)GGC>GGA	p.G677G	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.G567G	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	677						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						ACCCAGTTGGCGTGAACCCTT	0.428												
AIFM2	84883	broad.mit.edu	37	10	71876517	71876517	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:71876517G>A	uc010qjg.1	-	6	643	c.630C>T	c.(628-630)AGC>AGT	p.S210S	AIFM2_uc001jqp.1_Silent_p.S210S	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	210					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						CCTCCAGATTGCTCACCCGCT	0.597											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA0913	23053	broad.mit.edu	37	10	75549954	75549954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:75549954C>T	uc009xrl.2	+	7	877	c.845C>T	c.(844-846)TCG>TTG	p.S282L	KIAA0913_uc001jve.2_Missense_Mutation_p.S282L|KIAA0913_uc001jvf.2_Missense_Mutation_p.S282L|KIAA0913_uc001jvh.2_5'Flank|KIAA0913_uc001jvi.2_5'Flank|KIAA0913_uc010qkr.1_5'Flank|KIAA0913_uc001jvj.2_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	282							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CCCTCAGCATCGGACCAGAGT	0.517												
GRID1	2894	broad.mit.edu	37	10	87484277	87484277	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:87484277C>A	uc001kdl.1	-	11	1791	c.1690G>T	c.(1690-1692)GCT>TCT	p.A564S	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.A135S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	564	Helical; (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GCCCACACAGCGAAATCAAAT	0.512										Multiple Myeloma(13;0.14)		
IFIT3	3437	broad.mit.edu	37	10	91099742	91099742	+	Missense_Mutation	SNP	C	C	T	rs113402097		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:91099742C>T	uc001kgf.2	+	2	1559	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.R444C	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	444	TPR 7.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						GGAACTGGGCCGCCTGCTAAG	0.483												
C10orf12	26148	broad.mit.edu	37	10	98741419	98741419	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:98741419G>T	uc001kmv.2	+	1	379	c.272G>T	c.(271-273)AGA>ATA	p.R91I	C10orf12_uc009xvg.1_Missense_Mutation_p.R401I	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	91										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTCTGGGAAGAAATAAGGTG	0.453												
RRP12	23223	broad.mit.edu	37	10	99140565	99140565	+	Silent	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:99140565C>G	uc001knf.2	-	13	1663	c.1524G>C	c.(1522-1524)GTG>GTC	p.V508V	RRP12_uc009xvm.2_Silent_p.V226V|RRP12_uc010qou.1_Silent_p.V447V|RRP12_uc009xvn.2_Silent_p.V408V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	508						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTTCCTCATCACAGGGTGGG	0.493												
C10orf81	79949	broad.mit.edu	37	10	115534093	115534093	+	Splice_Site	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr10:115534093G>A	uc001lat.1	+	8	1323	c.761_splice	c.e8+1	p.Y254_splice	C10orf81_uc001lar.1_Splice_Site_p.Y260_splice|C10orf81_uc009xyc.1_Splice_Site_p.Y172_splice|C10orf81_uc001las.1_Splice_Site_p.Y172_splice|C10orf81_uc001lau.1_Splice_Site_p.Y74_splice	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949											central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TGGAATCCTAGTAAGTCAAAA	0.378												
OR51B4	79339	broad.mit.edu	37	11	5323107	5323107	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:5323107G>A	uc010qza.1	-	1	70	c.70C>T	c.(70-72)CGG>TGG	p.R24W	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	24	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGAGATCCGGTAGTGAACT	0.468											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
OR6A2	8590	broad.mit.edu	37	11	6816879	6816879	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:6816879G>C	uc001mes.1	-	1	261	c.61C>G	c.(61-63)CCT>GCT	p.P21A		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493												
SOX6	55553	broad.mit.edu	37	11	16007941	16007941	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:16007941G>C	uc001mme.2	-	15	2064	c.2031C>G	c.(2029-2031)AAC>AAG	p.N677K	SOX6_uc001mmd.2_Missense_Mutation_p.N640K|SOX6_uc001mmf.2_Missense_Mutation_p.N637K|SOX6_uc001mmg.2_Missense_Mutation_p.N644K	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	664	HMG box.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GCTTCTCCTGGTTGGACATTG	0.428												
DEPDC7	91614	broad.mit.edu	37	11	33053076	33053076	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:33053076G>C	uc001mub.2	+	5	1027	c.935G>C	c.(934-936)AGT>ACT	p.S312T	DEPDC7_uc001muc.2_Missense_Mutation_p.S303T	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	312					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						TATTACAGTAGTAGGGAACCT	0.388												
KCNJ1	3758	broad.mit.edu	37	11	128709348	128709348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr11:128709348G>A	uc001qeo.1	-	2	899	c.848C>T	c.(847-849)GCG>GTG	p.A283V	KCNJ1_uc001qep.1_Missense_Mutation_p.A264V|KCNJ1_uc001qeq.1_Missense_Mutation_p.A264V|KCNJ1_uc001qer.1_Missense_Mutation_p.A264V|KCNJ1_uc001qes.1_Missense_Mutation_p.A264V	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	283	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGGGTCTCCGCTGCCATGTG	0.463												
WNK1	65125	broad.mit.edu	37	12	922912	922912	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:922912A>T	uc001qio.3	+	2	1371	c.864A>T	c.(862-864)GAA>GAT	p.E288D	WNK1_uc001qin.2_Missense_Mutation_p.E288D|WNK1_uc001qip.3_Missense_Mutation_p.E288D	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	288	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATTCCTGGGAATCCACAGTAA	0.353												
WNK1	65125	broad.mit.edu	37	12	989017	989017	+	Silent	SNP	G	G	T	rs142528714		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:989017G>T	uc001qio.3	+	11	3159	c.2652G>T	c.(2650-2652)GCG>GCT	p.A884A	WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	884					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAACAGCTGCGATCCCGGGGG	0.547												
A2M	2	broad.mit.edu	37	12	9227252	9227252	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:9227252C>A	uc001qvk.1	-	29	3773	c.3660G>T	c.(3658-3660)CAG>CAT	p.Q1220H	A2M_uc001qvj.1_Missense_Mutation_p.Q262H|A2M_uc009zgk.1_Missense_Mutation_p.Q1070H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1220					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TTGGGGCTGGCTGGGCCGTGA	0.582												
TAS2R7	50837	broad.mit.edu	37	12	10954694	10954694	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:10954694C>A	uc001qyv.2	-	1	533	c.476G>T	c.(475-477)TGT>TTT	p.C159F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	159	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						TGCCTTCACACAAAACCTGAA	0.428												
GUCY2C	2984	broad.mit.edu	37	12	14804400	14804400	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:14804400C>A	uc001rcd.2	-	15	1788	c.1651G>T	c.(1651-1653)GTG>TTG	p.V551L		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	551	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TCAAGTTTCACTGTGCCGTAG	0.403												
PLEKHA9	51054	broad.mit.edu	37	12	45567963	45567963	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:45567963G>A	uc001rom.1	-	3	723	c.186C>T	c.(184-186)ACC>ACT	p.T62T	PLEKHA9_uc009zke.2_Silent_p.T62T	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		GCAGCTCAGAGGTGAAGGCTG	0.448												
KRT2	3849	broad.mit.edu	37	12	53040566	53040566	+	Missense_Mutation	SNP	T	T	A	rs60537449		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:53040566T>A	uc001sat.2	-	7	1460	c.1427A>T	c.(1426-1428)GAG>GTG	p.E476V		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	476	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		GGTGGCGATCTCCACATCTAG	0.627												
KRT79	338785	broad.mit.edu	37	12	53225213	53225213	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:53225213G>T	uc001sbb.2	-	2	708	c.675C>A	c.(673-675)GAC>GAA	p.D225E	KRT79_uc001sba.2_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	225	Rod.|Coil 1B.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						CCTCCACAAGGTCCTGCACGT	0.627												
LRIG3	121227	broad.mit.edu	37	12	59279648	59279648	+	Silent	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:59279648T>C	uc001sqr.2	-	10	1455	c.1209A>G	c.(1207-1209)AAA>AAG	p.K403K	LRIG3_uc009zqh.2_Silent_p.K343K|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	403	LRR 14.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAAGGCTTTTTTAGTAATAG	0.368												
BEST3	144453	broad.mit.edu	37	12	70091576	70091576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:70091576C>T	uc001svg.2	-	2	230	c.3G>A	c.(1-3)ATG>ATA	p.M1I	BEST3_uc001svd.1_Missense_Mutation_p.M1I|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	1	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGTGACAGTCATCTTGGATA	0.358												
NAV3	89795	broad.mit.edu	37	12	78582112	78582112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:78582112C>T	uc001syp.2	+	32	6048	c.5875C>T	c.(5875-5877)CGT>TGT	p.R1959C	NAV3_uc001syo.2_Missense_Mutation_p.R1937C|NAV3_uc010sub.1_Missense_Mutation_p.R1416C|NAV3_uc009zsf.2_Missense_Mutation_p.R768C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1959						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1937C(1)		large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TGTAATAAGACGTCTCTTTAA	0.343										HNSCC(70;0.22)		
BTBD11	121551	broad.mit.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:108004005C>T	uc001tmk.1	+	5	2203	c.1682C>T	c.(1681-1683)GCG>GTG	p.A561V	BTBD11_uc009zut.1_Missense_Mutation_p.A561V|BTBD11_uc001tmj.2_Missense_Mutation_p.A561V|BTBD11_uc001tml.1_Missense_Mutation_p.A98V	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	561						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KNTC1	9735	broad.mit.edu	37	12	123060182	123060182	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:123060182G>T	uc001ucv.2	+	28	2638	c.2475G>T	c.(2473-2475)ATG>ATT	p.M825I	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	825					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACCTGGAAATGGACCATCCCA	0.418												
NCOR2	9612	broad.mit.edu	37	12	124862804	124862804	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:124862804C>G	uc010tba.1	-	18	2263	c.2146G>C	c.(2146-2148)GAG>CAG	p.E716Q	NCOR2_uc010tay.1_Missense_Mutation_p.E716Q|NCOR2_uc010taz.1_Missense_Mutation_p.E716Q|NCOR2_uc010tbb.1_Missense_Mutation_p.E716Q|NCOR2_uc010tbc.1_Missense_Mutation_p.E715Q|NCOR2_uc001ugj.1_Missense_Mutation_p.E716Q	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	716					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCACCATCTCCTCCTCATTT	0.667												
RASL11A	387496	broad.mit.edu	37	13	27847365	27847365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:27847365C>T	uc001urd.1	+	4	1081	c.463C>T	c.(463-465)CGG>TGG	p.R155W		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	155	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TTTGCATGCCCGGCAGGTGCA	0.532												
B3GALTL	145173	broad.mit.edu	37	13	31898019	31898019	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:31898019C>G	uc010aaz.2	+	14	1426	c.1316C>G	c.(1315-1317)CCT>CGT	p.P439R	B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.P44R	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	439	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ACACACAGCCCTCTCTTCCAT	0.463												
ENOX1	55068	broad.mit.edu	37	13	43986166	43986166	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:43986166C>G	uc001uza.3	-	5	394	c.94G>C	c.(94-96)GCG>CCG	p.A32P	ENOX1_uc001uzb.3_Missense_Mutation_p.A32P|ENOX1_uc001uzc.3_Missense_Mutation_p.A32P	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTGTCTATCGCTATACTCCCC	0.483												
CCDC122	160857	broad.mit.edu	37	13	44443470	44443470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:44443470C>T	uc010acf.2	-	3	302	c.43G>A	c.(43-45)GAA>AAA	p.E15K	CCDC122_uc010tfn.1_Missense_Mutation_p.E15K	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	15											0		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TCATTACCTTCTTTAGGAAAT	0.313												
PIBF1	10464	broad.mit.edu	37	13	73547774	73547774	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:73547774A>C	uc001vjc.2	+	16	2315	c.2010A>C	c.(2008-2010)CAA>CAC	p.Q670H	PIBF1_uc001vjb.2_Missense_Mutation_p.Q670H|PIBF1_uc010aep.2_Missense_Mutation_p.Q129H	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	670						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGAAGAATCAAATGGCATTAG	0.269												
EDNRB	1910	broad.mit.edu	37	13	78492668	78492668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:78492668G>A	uc001vko.2	-	1	299	c.41C>T	c.(40-42)GCG>GTG	p.A14V	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A14V|EDNRB_uc010aez.1_Missense_Mutation_p.A14V|EDNRB_uc001vkp.1_Missense_Mutation_p.A97V|EDNRB_uc010afa.1_Missense_Mutation_p.A14V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	14					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)	AAGAACCAGCGCAACCAGGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EFNB2	1948	broad.mit.edu	37	13	107147295	107147295	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:107147295G>A	uc001vqi.2	-	4	572	c.547C>T	c.(547-549)CCA>TCA	p.P183S		NM_004093	NP_004084	P52799	EFNB2_HUMAN	ephrin B2 precursor	183	Extracellular (Potential).				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			ovary(1)	1	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCTAGTTCTGGACGTCTTGTT	0.398												
ADPRHL1	113622	broad.mit.edu	37	13	114077206	114077206	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr13:114077206G>A	uc001vtq.1	-	7	1083	c.996C>T	c.(994-996)GAC>GAT	p.D332D	ADPRHL1_uc001vtp.1_Silent_p.D250D	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	332					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGTCCTCCAGGTCCTGGTACA	0.607												
OR4N2	390429	broad.mit.edu	37	14	20295867	20295867	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:20295867C>A	uc010tkv.1	+	1	260	c.260C>A	c.(259-261)TCT>TAT	p.S87Y		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTTCCTCTCTGCGAAGAAG	0.522												
SDR39U1	56948	broad.mit.edu	37	14	24911974	24911974	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:24911974A>T	uc001wpm.2	-	1	34	c.2T>A	c.(1-3)ATG>AAG	p.M1K	SDR39U1_uc001wpi.2_5'Flank|SDR39U1_uc001wpj.2_5'Flank|SDR39U1_uc001wpk.2_5'Flank|SDR39U1_uc001wpl.2_5'Flank|SDR39U1_uc001wpn.2_Intron|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	Error:Variant_position_missing_in_Q9NRG7_after_alignment							binding			pancreas(1)	1						AAGCACACGCATAGCGACTAG	0.587												
GZMH	2999	broad.mit.edu	37	14	25078787	25078787	+	Silent	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:25078787A>C	uc001wpr.1	-	1	78	c.33T>G	c.(31-33)CTT>CTG	p.L11L	GZMH_uc010aly.1_Silent_p.L11L|GZMH_uc010alz.1_Silent_p.L11L	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	11					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		CAGGGGTCAGAAGAAAGGCCA	0.522												
NOVA1	4857	broad.mit.edu	37	14	26917367	26917367	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:26917367C>A	uc001wpy.2	-	5	1640	c.1322G>T	c.(1321-1323)GGG>GTG	p.G441V	NOVA1_uc001wpz.2_Missense_Mutation_p.G417V|NOVA1_uc001wqa.2_Missense_Mutation_p.G319V	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	444	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		TAATGTTTTCCCTCCTTTGCC	0.433												
RTN1	6252	broad.mit.edu	37	14	60069806	60069806	+	Silent	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:60069806A>C	uc001xen.1	-	8	2474	c.2265T>G	c.(2263-2265)ACT>ACG	p.T755T	RTN1_uc001xem.1_Silent_p.T335T|RTN1_uc001xek.1_Silent_p.T187T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.T172T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	755	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CATTTATGTGAGTCCTCACAA	0.373												
SMEK1	55671	broad.mit.edu	37	14	91927850	91927850	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:91927850G>C	uc001xzn.2	-	14	3088	c.2266C>G	c.(2266-2268)CTC>GTC	p.L756V	SMEK1_uc001xzm.2_Missense_Mutation_p.L743V|SMEK1_uc001xzo.2_Missense_Mutation_p.L743V|SMEK1_uc010atz.2_Missense_Mutation_p.L517V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	756						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGGCTGGTGAGGTTAGTCTTC	0.488												
SERPINA10	51156	broad.mit.edu	37	14	94756557	94756557	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:94756557T>A	uc001yct.2	-	2	840	c.374A>T	c.(373-375)AAG>ATG	p.K125M	SERPINA10_uc001ycu.3_Missense_Mutation_p.K125M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	125					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGCCCTCTCTTGATCTGGGT	0.592												
PACS2	23241	broad.mit.edu	37	14	105859631	105859631	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:105859631G>C	uc001yqt.2	+	23	2685	c.2510G>C	c.(2509-2511)CGG>CCG	p.R837P	PACS2_uc001yqs.2_Missense_Mutation_p.R762P|PACS2_uc001yqv.2_Missense_Mutation_p.R841P|PACS2_uc001yqu.2_Missense_Mutation_p.R852P	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	837					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGCATCAGCCGGCTCATCTGC	0.602												
ATP10A	57194	broad.mit.edu	37	15	25924998	25924998	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:25924998G>A	uc010ayu.2	-	21	4096	c.3990C>T	c.(3988-3990)CTC>CTT	p.L1330L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1330	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGTCCTTCGGGAGGCGTCCCT	0.607												
RASGRP1	10125	broad.mit.edu	37	15	38808415	38808415	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:38808415A>T	uc001zke.3	-	6	836	c.658T>A	c.(658-660)TCT>ACT	p.S220T	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.S82T|RASGRP1_uc010bbg.2_Missense_Mutation_p.S82T|RASGRP1_uc001zkd.3_Missense_Mutation_p.S220T	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	220	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTCCGGAAAGACTTGAACTCA	0.443												
FBN1	2200	broad.mit.edu	37	15	48808532	48808532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:48808532G>A	uc001zwx.1	-	11	1503	c.1175C>T	c.(1174-1176)CCT>CTT	p.P392L		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	392					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATTACCATAGGAACAGAGCA	0.483												
DMXL2	23312	broad.mit.edu	37	15	51772201	51772201	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:51772201G>C	uc002abf.2	-	25	6925	c.6700C>G	c.(6700-6702)CTT>GTT	p.L2234V	DMXL2_uc002abd.2_Missense_Mutation_p.L304V|DMXL2_uc010ufy.1_Missense_Mutation_p.L2234V|DMXL2_uc010bfa.2_Missense_Mutation_p.L1598V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2234						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		ATAGTATAAAGTATATCATGG	0.353												
DMXL2	23312	broad.mit.edu	37	15	51790812	51790812	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:51790812A>T	uc002abf.2	-	18	4834	c.4609T>A	c.(4609-4611)TTG>ATG	p.L1537M	DMXL2_uc010ufy.1_Missense_Mutation_p.L1537M|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1537						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GTATCAGCCAAAGCTACAAGG	0.413												
RFX7	64864	broad.mit.edu	37	15	56388648	56388648	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:56388648C>T	uc010bfn.2	-	9	1278	c.1278G>A	c.(1276-1278)CGG>CGA	p.R426R	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.R240R	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	329					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GGTAACGGTGCCGGGCAGAAC	0.527												
ANP32A	8125	broad.mit.edu	37	15	69080154	69080154	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:69080154G>A	uc002arl.2	-	2	330	c.159C>T	c.(157-159)GGC>GGT	p.G53G		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	53	LRR 2.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						TTGAGGTGAGGCCTACGTTGA	0.468												
CSK	1445	broad.mit.edu	37	15	75091016	75091016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:75091016C>T	uc010bkb.1	+	4	259	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	CSK_uc010bka.2_Missense_Mutation_p.A96V|CSK_uc002ays.2_Nonsense_Mutation_p.Q26*|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	26	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						CACTGCCGAGCAGGACCTGCC	0.627												
SYNM	23336	broad.mit.edu	37	15	99670184	99670184	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:99670184A>G	uc002bup.2	+	6	1739	c.1619A>G	c.(1618-1620)GAA>GGA	p.E540G	SYNM_uc002buo.2_Missense_Mutation_p.E540G|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	540	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						CTAAGATGGGAAGAATTGACA	0.458												
OR4F15	390649	broad.mit.edu	37	15	102359303	102359303	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr15:102359303T>C	uc010uts.1	+	1	914	c.914T>C	c.(913-915)CTT>CCT	p.L305P		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGCAGTCGTCTTGCGCATTTT	0.373												
SRCAP	10847	broad.mit.edu	37	16	30747914	30747914	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:30747914A>G	uc002dze.1	+	33	7362	c.6977A>G	c.(6976-6978)GAG>GGG	p.E2326G	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2121G	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2326	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TCACTGGAGGAGGTGAGCCGA	0.493												
CHD9	80205	broad.mit.edu	37	16	53272298	53272298	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:53272298A>G	uc002ehb.2	+	11	2841	c.2677A>G	c.(2677-2679)ATT>GTT	p.I893V	CHD9_uc002egy.2_Missense_Mutation_p.I893V|CHD9_uc002eha.1_Missense_Mutation_p.I893V|CHD9_uc002ehc.2_Missense_Mutation_p.I893V|CHD9_uc002ehf.2_Missense_Mutation_p.I7V|CHD9_uc002ehd.2_Missense_Mutation_p.I419V|CHD9_uc002ehe.1_Missense_Mutation_p.I7V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	893	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TGGCAAAACTATTCAATCAAT	0.348												
ATP6V0D1	9114	broad.mit.edu	37	16	67477017	67477017	+	Silent	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:67477017G>C	uc002ete.1	-	4	646	c.546C>G	c.(544-546)CGC>CGG	p.R182R	ATP6V0D1_uc010vjo.1_Silent_p.R223R|ATP6V0D1_uc010vjn.1_Silent_p.R105R	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	182					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGAGGGTGTTGCGGATGATCT	0.557												
ACSF3	197322	broad.mit.edu	37	16	89187233	89187233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:89187233G>A	uc002fmp.2	+	7	1491	c.1151G>A	c.(1150-1152)GGA>GAA	p.G384E	ACSF3_uc010cig.1_Missense_Mutation_p.G384E|ACSF3_uc010cih.1_Missense_Mutation_p.G119E|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.G119E	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	384					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CCACTGCCTGGAGTACAGGTG	0.587												
GAS8	2622	broad.mit.edu	37	16	90103775	90103775	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr16:90103775G>A	uc002fqi.1	+	7	1014	c.892G>A	c.(892-894)GCA>ACA	p.A298T	GAS8_uc010vps.1_Missense_Mutation_p.A273T|GAS8_uc002fqh.2_Missense_Mutation_p.A215T|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.A269T|GAS8_uc010cjc.1_Missense_Mutation_p.A215T|GAS8_uc010vpw.1_Missense_Mutation_p.A215T|GAS8_uc002fqj.1_Missense_Mutation_p.A106T	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	298	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GAAACAGCTCGCAAACTACGA	0.587												
DNAH2	146754	broad.mit.edu	37	17	7674725	7674725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:7674725G>A	uc002giu.1	+	27	4454	c.4440G>A	c.(4438-4440)TGG>TGA	p.W1480*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1480	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAGCAACTGGAAAGCCATCA	0.547												
ZNF287	57336	broad.mit.edu	37	17	16466545	16466545	+	Silent	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:16466545T>C	uc002gqi.2	-	5	1083	c.630A>G	c.(628-630)GGA>GGG	p.G210G		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	203	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACACTGTAAGTCCTGTTCAGG	0.388												
TADA2A	6871	broad.mit.edu	37	17	35830563	35830563	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:35830563A>G	uc002hnt.2	+	13	1112	c.955A>G	c.(955-957)ATG>GTG	p.M319V	TADA2A_uc002hnv.2_Missense_Mutation_p.M319V|TADA2A_uc002hnw.2_Missense_Mutation_p.M218V|TADA2A_uc010cvb.2_Missense_Mutation_p.M115V	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	319					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TAAACGCACTATGCTCTCAGA	0.512												
KRT33A	3883	broad.mit.edu	37	17	39505636	39505636	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:39505636G>A	uc002hwk.1	-	2	430	c.393C>T	c.(391-393)ATC>ATT	p.I131I		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	131	Rod.|Coil 1B.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TGGCATTGTCGATCTGCACCA	0.488												
KRT37	8688	broad.mit.edu	37	17	39579089	39579089	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:39579089C>T	uc002hwp.1	-	3	720	c.673G>A	c.(673-675)GAG>AAG	p.E225K	uc002hwo.1_Intron	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	225	Rod.|Coil 1B.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				TGCTGGGCCTCCAGGTCGGCC	0.667												
NFE2L1	4779	broad.mit.edu	37	17	46128617	46128617	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:46128617C>G	uc002imz.3	+	2	788	c.137C>G	c.(136-138)CCC>CGC	p.P46R	NFE2L1_uc002ina.3_Missense_Mutation_p.P46R|NFE2L1_uc002inb.3_Missense_Mutation_p.P46R|NFE2L1_uc002inc.1_Missense_Mutation_p.P46R	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	46					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						ATCCTGGGGCCCAGTTCTGCC	0.527												
HOXB3	3213	broad.mit.edu	37	17	46629484	46629484	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:46629484C>A	uc002inn.2	-	1	753	c.353G>T	c.(352-354)GGT>GTT	p.G118V	HOXB3_uc010wlm.1_Missense_Mutation_p.G45V|HOXB3_uc010dbf.2_Missense_Mutation_p.G118V|HOXB3_uc010dbg.2_Missense_Mutation_p.G118V|HOXB3_uc002ino.2_Missense_Mutation_p.G118V|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Missense_Mutation_p.G45V	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	118					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGTGCCGGGACCGCACTTTGG	0.617												
B4GALNT2	124872	broad.mit.edu	37	17	47219490	47219490	+	Silent	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:47219490G>C	uc002ion.2	+	3	548	c.489G>C	c.(487-489)GCG>GCC	p.A163A	B4GALNT2_uc010wlt.1_Silent_p.A77A|B4GALNT2_uc010wlu.1_Silent_p.A103A	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	163	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			ACCTCCCAGCGGTGAAAGCGA	0.507												
ABI3	51225	broad.mit.edu	37	17	47295217	47295217	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:47295217G>A	uc002iop.1	+	3	900	c.402G>A	c.(400-402)ACG>ACA	p.T134T	ABI3_uc002ioq.1_Silent_p.T128T	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	NESH protein isoform 1	134					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCCTCTCACGCCCTACTGCA	0.632										HNSCC(55;0.14)		
DNAH17	8632	broad.mit.edu	37	17	76501424	76501424	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:76501424T>C	uc010wtu.1	-	5	959	c.782A>G	c.(781-783)AAG>AGG	p.K261R						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCGTCCTCCTTGCTGTACAT	0.562												
TBC1D16	125058	broad.mit.edu	37	17	77921612	77921612	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr17:77921612G>A	uc002jxj.2	-	9	1676	c.1560C>T	c.(1558-1560)TAC>TAT	p.Y520Y	TBC1D16_uc002jxh.2_Silent_p.Y158Y|TBC1D16_uc002jxi.2_Silent_p.Y145Y|TBC1D16_uc002jxk.1_Silent_p.Y158Y	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	520	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGTACACGGCGTAGTTCAGCA	0.647												
MYOM1	8736	broad.mit.edu	37	18	3134758	3134758	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:3134758C>T	uc002klp.2	-	16	2608	c.2274G>A	c.(2272-2274)TCG>TCA	p.S758S	MYOM1_uc002klq.2_Silent_p.S758S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	758	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACTCCTCCCACGAAACTACCA	0.517												
FAM38B	63895	broad.mit.edu	37	18	10696150	10696150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:10696150C>T	uc002kor.3	-	5	784	c.644G>A	c.(643-645)GGA>GAA	p.G215E	FAM38B_uc002koq.2_Missense_Mutation_p.G113E	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2258						integral to membrane	ion channel activity			ovary(1)	1						GATGACCTTTCCCAGTACAGT	0.512												
CEP192	55125	broad.mit.edu	37	18	13040842	13040842	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:13040842A>G	uc010xac.1	+	14	1903	c.1823A>G	c.(1822-1824)TAT>TGT	p.Y608C	CEP192_uc010dlf.1_Intron|CEP192_uc010xad.1_Missense_Mutation_p.Y133C|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.Y349C	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	608										ovary(4)|pancreas(1)	5						TCATTTGGCTATTTTATTAGA	0.294												
DSG1	1828	broad.mit.edu	37	18	28934840	28934840	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:28934840T>G	uc002kwp.2	+	15	2893	c.2681T>G	c.(2680-2682)GTG>GGG	p.V894G	DSG1_uc010xbp.1_Missense_Mutation_p.V253G	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	894	Cytoplasmic (Potential).|Desmoglein repeat 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATGTTATAGTGACAGAAAGG	0.468												
DSG4	147409	broad.mit.edu	37	18	28989416	28989416	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:28989416G>T	uc002kwq.2	+	13	2070	c.1935G>T	c.(1933-1935)TTG>TTT	p.L645F	DSG4_uc002kwr.2_Missense_Mutation_p.L645F	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	645	Helical; (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTGGGCAGTGGCTCCACTCT	0.502												
MCART2	147407	broad.mit.edu	37	18	29340618	29340618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:29340618C>T	uc002kxa.2	-	1	226	c.7G>A	c.(7-9)GAT>AAT	p.D3N		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	3					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			GCTTCTGAATCTATCATGTTG	0.368												
KIAA1468	57614	broad.mit.edu	37	18	59928806	59928806	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr18:59928806G>C	uc002lil.2	+	16	2480	c.2265G>C	c.(2263-2265)TTG>TTC	p.L755F	KIAA1468_uc002lik.1_Missense_Mutation_p.L755F|KIAA1468_uc010xel.1_Missense_Mutation_p.L755F|KIAA1468_uc002lim.2_Missense_Mutation_p.L399F	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	755							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TGCAGTCCTTGATCCCATCTC	0.423												
MBD3L1	85509	broad.mit.edu	37	19	8953560	8953560	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:8953560G>T	uc002mko.2	+	1	292	c.206G>T	c.(205-207)AGG>ATG	p.R69M		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	69	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TGCTGGCAGAGGAGACTGCAG	0.507												
MUC16	94025	broad.mit.edu	37	19	9084075	9084075	+	Silent	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:9084075T>G	uc002mkp.2	-	1	7944	c.7740A>C	c.(7738-7740)ACA>ACC	p.T2580T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2580	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGAGGTGGGTGTAGTTGGGG	0.483												
ICAM3	3385	broad.mit.edu	37	19	10449619	10449619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:10449619G>A	uc002mob.2	-	2	137	c.82C>T	c.(82-84)CAG>TAG	p.Q28*	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	28					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCCTGCCCCTGGACACCTTCA	0.547												
CACNA1A	773	broad.mit.edu	37	19	13445285	13445285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:13445285G>A	uc010dze.2	-	8	1341	c.1105C>T	c.(1105-1107)CGG>TGG	p.R369W	CACNA1A_uc002mwy.3_Missense_Mutation_p.R369W	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	369	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCTCCACCCGTTCCCTTTCT	0.438												
ARRDC2	27106	broad.mit.edu	37	19	18119572	18119572	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:18119572C>T	uc002nhv.2	+	2	470	c.327C>T	c.(325-327)AGC>AGT	p.S109S	ARRDC2_uc002nhu.2_Silent_p.S104S	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	109										pancreas(1)	1						TCCTGTTCAGCTTCCAGCTGC	0.612												
SLC25A42	284439	broad.mit.edu	37	19	19217190	19217190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:19217190G>A	uc002nlf.1	+	6	644	c.493G>A	c.(493-495)GAA>AAA	p.E165K	SLC25A42_uc010xqn.1_Missense_Mutation_p.E217K	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	165	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AACCCCGAAGGAAATGTGAGT	0.652												
CCDC114	93233	broad.mit.edu	37	19	48807339	48807339	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:48807339G>T	uc002pir.2	-	7	1296	c.613C>A	c.(613-615)CAG>AAG	p.Q205K	CCDC114_uc002piq.2_Missense_Mutation_p.Q14K|CCDC114_uc002pio.2_Missense_Mutation_p.Q242K|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.Q242K|CCDC114_uc002piu.1_Missense_Mutation_p.Q242K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	205	Potential.									ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		ATCTCGCTCTGGGCCTCCTCT	0.657												
GP6	51206	broad.mit.edu	37	19	55543747	55543747	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:55543747A>T	uc002qik.2	-	3	113	c.85T>A	c.(85-87)TCC>ACC	p.S29T	GP6_uc002qil.2_Missense_Mutation_p.S29T|GP6_uc010esq.2_Missense_Mutation_p.S29T|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 2	29	Ig-like C2-type 1.|Extracellular (Potential).				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GCCTGGAGGGAGGGCTTGGGG	0.721												
SUV420H2	84787	broad.mit.edu	37	19	55855158	55855158	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:55855158C>A	uc002qkj.3	+	5	745	c.497C>A	c.(496-498)ACC>AAC	p.T166N	SUV420H2_uc002qkl.2_Missense_Mutation_p.T51N	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	166	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATGTACTCAACCCGCAAGCGG	0.627												
PXDN	7837	broad.mit.edu	37	2	1691444	1691444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:1691444C>T	uc002qxa.2	-	4	440	c.376G>A	c.(376-378)GAC>AAC	p.D126N	PXDN_uc002qxb.1_Missense_Mutation_p.D126N|PXDN_uc002qxc.1_Intron	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	126	LRR 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTTGCCTGTCAATTGACTGG	0.453												
KIDINS220	57498	broad.mit.edu	37	2	8891763	8891763	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:8891763T>A	uc002qzc.2	-	23	3205	c.3023A>T	c.(3022-3024)AAT>ATT	p.N1008I	KIDINS220_uc010yiv.1_Missense_Mutation_p.N774I|KIDINS220_uc002qzd.2_Missense_Mutation_p.N966I|KIDINS220_uc010yiw.1_Missense_Mutation_p.N1009I|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Missense_Mutation_p.N13I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1008	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTTGGAATATTCTTTGATAT	0.318												
CAD	790	broad.mit.edu	37	2	27456582	27456582	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:27456582A>G	uc002rji.2	+	21	3467	c.3305A>G	c.(3304-3306)TAC>TGC	p.Y1102C	CAD_uc010eyw.2_Missense_Mutation_p.Y1039C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1102	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AATGTGGCCTACACGGATGGA	0.602												
PLB1	151056	broad.mit.edu	37	2	28718990	28718990	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:28718990G>A	uc002rmb.1	+	1	9	c.9G>A	c.(7-9)CTG>CTA	p.L3L	PLB1_uc010ezj.1_Silent_p.L3L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	3					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCATGGGGCTGCGGCCAGGCA	0.587												
ATP6V1B1	525	broad.mit.edu	37	2	71191631	71191631	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:71191631G>A	uc002shj.2	+	12	1294	c.1207G>A	c.(1207-1209)GGC>AGC	p.G403S	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.G386S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.G361S	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	403					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CATTGGGGAAGGCATGACAAG	0.567											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMYD5	10322	broad.mit.edu	37	2	73453064	73453064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:73453064C>T	uc002siw.2	+	13	1276	c.1247C>T	c.(1246-1248)ACT>ATT	p.T416I	SMYD5_uc010yre.1_Missense_Mutation_p.T300I|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	416							metal ion binding				0						GATGAGATGACTGATGTGTGA	0.483												
TMEM131	23505	broad.mit.edu	37	2	98428986	98428986	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:98428986G>C	uc002syh.3	-	17	1990	c.1761C>G	c.(1759-1761)GAC>GAG	p.D587E		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	587						integral to membrane				ovary(4)|central_nervous_system(2)	6						TTGATAAACCGTCTCCTATGA	0.308												
LONRF2	164832	broad.mit.edu	37	2	100906807	100906807	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:100906807C>T	uc002tal.3	-	10	2473	c.1833G>A	c.(1831-1833)GCG>GCA	p.A611A	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	611	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						TGATGCCAATCGCGTCTACAA	0.453												
LRP2	4036	broad.mit.edu	37	2	170038058	170038058	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:170038058A>T	uc002ues.2	-	52	10282	c.10069T>A	c.(10069-10071)TCT>ACT	p.S3357T		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3357	Extracellular (Potential).|LDL-receptor class B 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTATCACAGACTTGTTGGTT	0.507												
MYO3B	140469	broad.mit.edu	37	2	171264299	171264299	+	Silent	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:171264299A>G	uc002ufy.2	+	22	2738	c.2595A>G	c.(2593-2595)AGA>AGG	p.R865R	MYO3B_uc002ufv.2_Silent_p.R852R|MYO3B_uc010fqb.1_Silent_p.R852R|MYO3B_uc002ufz.2_Silent_p.R865R|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	865	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						TGGTCCTGAGAACGTCAGAAA	0.448												
WIPF1	7456	broad.mit.edu	37	2	175437055	175437055	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:175437055C>A	uc002uiy.2	-	6	810	c.478G>T	c.(478-480)GGT>TGT	p.G160C	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.G160C|WIPF1_uc010fqt.1_Missense_Mutation_p.G160C|WIPF1_uc002ujc.1_Missense_Mutation_p.G160C|WIPF1_uc002uiz.2_Missense_Mutation_p.G160C|WIPF1_uc002ujb.1_Missense_Mutation_p.G160C|WIPF1_uc010zep.1_Missense_Mutation_p.G160C	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	160					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						TCTGGGGGACCACTTCTGTGG	0.592												
DNAH7	56171	broad.mit.edu	37	2	196756511	196756511	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:196756511G>T	uc002utj.3	-	31	5015	c.4914C>A	c.(4912-4914)AAC>AAA	p.N1638K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1638	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTTGAACTTTGTTTTCTTCCA	0.274												
SMARCAL1	50485	broad.mit.edu	37	2	217285023	217285023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:217285023G>A	uc002vgc.3	+	5	1194	c.864G>A	c.(862-864)ATG>ATA	p.M288I	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.M288I|SMARCAL1_uc010fvg.2_Missense_Mutation_p.M288I	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	288	HARP 1.				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)		CTTTGGCAGTGAAAGCAGCCC	0.567									Schimke_Immuno-Osseous_Dysplasia			
C2orf62	375307	broad.mit.edu	37	2	219231774	219231774	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:219231774C>T	uc002vhr.2	+	8	812	c.783C>T	c.(781-783)GGC>GGT	p.G261G	C2orf62_uc002vhs.2_RNA|uc002vht.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	261											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACAGGTGGGCTCCCCAGGGT	0.547												
DNER	92737	broad.mit.edu	37	2	230282862	230282862	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:230282862A>T	uc002vpv.2	-	9	1718	c.1571T>A	c.(1570-1572)GTT>GAT	p.V524D		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	524	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATAGCCATTAACGAGGTCCCT	0.527												
L3MBTL	26013	broad.mit.edu	37	20	42162956	42162956	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:42162956G>C	uc010zwh.1	+	15	1612	c.1566G>C	c.(1564-1566)AAG>AAC	p.K522N	L3MBTL_uc002xkl.2_Missense_Mutation_p.K454N|L3MBTL_uc002xkm.2_Missense_Mutation_p.K454N|L3MBTL_uc010ggl.2_Missense_Mutation_p.K454N|L3MBTL_uc002xkn.1_Missense_Mutation_p.K213N|L3MBTL_uc002xko.2_Missense_Mutation_p.K106N	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	454	MBT 3.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAATATGAAGCTGGAGGCTG	0.637												
R3HDML	140902	broad.mit.edu	37	20	42973984	42973984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:42973984C>T	uc002xls.1	+	4	767	c.595C>T	c.(595-597)CGG>TGG	p.R199W		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	199						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CACCTGGCATCGGGCGGCATA	0.577												
ELMO2	63916	broad.mit.edu	37	20	45003240	45003240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:45003240G>A	uc002xrt.1	-	14	1315	c.1105C>T	c.(1105-1107)CCT>TCT	p.P369S	ELMO2_uc010zxq.1_Missense_Mutation_p.P101S|ELMO2_uc002xrs.1_Missense_Mutation_p.P116S|ELMO2_uc002xru.1_Missense_Mutation_p.P369S|ELMO2_uc010zxr.1_Missense_Mutation_p.P381S|ELMO2_uc010zxs.1_Missense_Mutation_p.P186S|ELMO2_uc002xrv.1_Missense_Mutation_p.P88S|ELMO2_uc002xrw.2_Missense_Mutation_p.P186S	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	369	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGCATTCCAGGAGGAGTCTGG	0.527												
ZFP64	55734	broad.mit.edu	37	20	50701719	50701720	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:50701719_50701720CC>AA	uc002xwk.2	-	9	1663_1664	c.1314_1315GG>TT	c.(1312-1317)GGGGAG>GGTTAG	p.E439*	ZFP64_uc002xwj.2_Nonsense_Mutation_p.E220*	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AAAGGCTTCTCCCCCGAGTGCA	0.535												
LAMA5	3911	broad.mit.edu	37	20	60909066	60909066	+	Silent	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr20:60909066G>C	uc002ycq.2	-	23	2836	c.2769C>G	c.(2767-2769)ACC>ACG	p.T923T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	923	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCAGGGGAGGTCAGGTTCA	0.667												
PCNT	5116	broad.mit.edu	37	21	47801629	47801629	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr21:47801629G>A	uc002zji.3	+	16	3293	c.3186G>A	c.(3184-3186)AAG>AAA	p.K1062K	PCNT_uc002zjj.2_Silent_p.K944K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1062	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAAGTGAAAAGAAAACTGCTT	0.403												
GSTT2	2953	broad.mit.edu	37	22	24323218	24323218	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr22:24323218G>C	uc002zzb.3	+	2	267	c.192G>C	c.(190-192)TTG>TTC	p.L64F	DDT_uc002zza.3_5'Flank|GSTT2_uc002zzc.3_Missense_Mutation_p.L64F	NM_000854	NP_000845	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	64	GST N-terminal.					cytoplasm	glutathione transferase activity				0						ATTTCATCTTGACCGAAAGGT	0.597												
PES1	23481	broad.mit.edu	37	22	30975222	30975222	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr22:30975222C>G	uc003aij.1	-	13	1497	c.1423G>C	c.(1423-1425)GGA>CGA	p.G475R	PES1_uc003aik.1_Missense_Mutation_p.G470R|PES1_uc003ail.1_Missense_Mutation_p.G458R|PES1_uc003aim.1_Missense_Mutation_p.G475R|PES1_uc003ain.1_Missense_Mutation_p.G336R|PES1_uc003aio.1_Missense_Mutation_p.G336R	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	475	Glu-rich.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						tcattttctccctcttcatca	0.259												
CHL1	10752	broad.mit.edu	37	3	432428	432428	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:432428A>C	uc003bou.2	+	20	2738	c.2467A>C	c.(2467-2469)AGT>CGT	p.S823R	CHL1_uc003bot.2_Missense_Mutation_p.S839R|CHL1_uc003bow.1_Missense_Mutation_p.S823R|CHL1_uc011asi.1_Missense_Mutation_p.S839R	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	823	Fibronectin type-III 3.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CGTTATAAACAGTACATTAGT	0.383												
ITPR1	3708	broad.mit.edu	37	3	4810221	4810221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:4810221G>A	uc003bqa.2	+	43	5956	c.5608G>A	c.(5608-5610)GAA>AAA	p.E1870K	ITPR1_uc010hca.1_Missense_Mutation_p.E1855K|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E840K	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1918	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACAGATAACAGAAGAGGTCCG	0.557												
TGFBR2	7048	broad.mit.edu	37	3	30729923	30729923	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:30729923C>A	uc003ceo.2	+	6	1826	c.1444C>A	c.(1444-1446)CCC>ACC	p.P482T	TGFBR2_uc003cen.2_Missense_Mutation_p.P507T	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	482	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GCGGGAGCACCCCTGTGTCGA	0.502												
CSRNP1	64651	broad.mit.edu	37	3	39186708	39186708	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:39186708C>A	uc003cjg.2	-	3	459	c.245G>T	c.(244-246)GGC>GTC	p.G82V	CSRNP1_uc003cjh.2_Missense_Mutation_p.G82V	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	AXIN1 up-regulated 1	82					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(4)|skin(1)	5						GGCTACACGGCCTGGGCGCTC	0.592												
LYZL4	131375	broad.mit.edu	37	3	42445586	42445586	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:42445586A>C	uc003cle.2	-	4	572	c.323T>G	c.(322-324)ATT>AGT	p.I108S		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	lysozyme-like 4 precursor	108					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGCACATTTAATTGTCTTCTC	0.378												
SETD2	29072	broad.mit.edu	37	3	47098523	47098523	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:47098523C>G	uc003cqs.2	-	15	6804	c.6751G>C	c.(6751-6753)GAC>CAC	p.D2251H	SETD2_uc003cqv.2_Missense_Mutation_p.D2318H|SETD2_uc003cqt.1_Intron	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2251	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACGCTGGAGTCTTGGTGTACT	0.547			N|F|S|Mis		clear cell renal carcinoma							
C3orf54	389119	broad.mit.edu	37	3	49842367	49842367	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:49842367A>T	uc003cxq.1	+	2	944	c.811A>T	c.(811-813)ATG>TTG	p.M271L		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	269											0				BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGCAGCTCTCATGAGCTGTCG	0.582												
DOCK3	1795	broad.mit.edu	37	3	50971444	50971444	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:50971444C>A	uc011bds.1	+	5	274	c.251C>A	c.(250-252)TCT>TAT	p.S84Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	84						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTGAAGATTCTATTGTGACT	0.398												
ALAS1	211	broad.mit.edu	37	3	52240613	52240613	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:52240613G>A	uc003dcy.1	+	8	1348	c.1011G>A	c.(1009-1011)GGG>GGA	p.G337G	ALAS1_uc003dcz.1_Silent_p.G337G|ALAS1_uc011bec.1_Silent_p.G354G	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	337					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGATTCTGGGAACCATGCCT	0.433												
STAB1	23166	broad.mit.edu	37	3	52551576	52551576	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:52551576G>C	uc003dej.2	+	44	4648	c.4574G>C	c.(4573-4575)AGC>ACC	p.S1525T	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1525	EGF-like 12.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCTCCTGCAGCTGCCGTGAG	0.652												
PTPRG	5793	broad.mit.edu	37	3	62253086	62253086	+	Silent	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:62253086T>C	uc003dlb.2	+	18	3377	c.2658T>C	c.(2656-2658)TAT>TAC	p.Y886Y	PTPRG_uc003dlc.2_Silent_p.Y857Y|PTPRG_uc011bfi.1_Silent_p.Y132Y|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	886	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTCTATAGATGATCACAGTA	0.343												
C3orf17	25871	broad.mit.edu	37	3	112732835	112732835	+	Silent	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:112732835G>T	uc003dzr.2	-	3	367	c.306C>A	c.(304-306)GGC>GGA	p.G102G	GTPBP8_uc011bhy.1_Intron|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_Silent_p.G5G|C3orf17_uc003dzs.2_5'UTR|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_5'UTR|C3orf17_uc003dzu.2_Silent_p.G101G|C3orf17_uc011bib.1_Silent_p.G5G|C3orf17_uc011bic.1_Silent_p.G5G|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	102						integral to membrane					0						CTTGAATTGAGCCCTCCAAAT	0.418												
H1FX	8971	broad.mit.edu	37	3	129034479	129034479	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:129034479G>A	uc003elx.2	-	1	642	c.267C>T	c.(265-267)CTC>CTT	p.L89L	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	89	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0						TCGAGTACTTGAGGTAGGTGC	0.602												
EPHB1	2047	broad.mit.edu	37	3	134873004	134873004	+	Silent	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:134873004C>G	uc003eqt.2	+	6	1528	c.1308C>G	c.(1306-1308)ACC>ACG	p.T436T	EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	436	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CCCCCTCCACCGTTCCCATCA	0.532												
SOX14	8403	broad.mit.edu	37	3	137483819	137483819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:137483819C>T	uc003erm.1	+	1	241	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	65	HMG box.				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						CAAGCGGCTACGCGCCCAGCA	0.567												
MECOM	2122	broad.mit.edu	37	3	168833682	168833682	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:168833682C>G	uc003ffi.3	-	7	1683	c.1414G>C	c.(1414-1416)GAT>CAT	p.D472H	MECOM_uc010hwk.1_Missense_Mutation_p.D495H|MECOM_uc003ffj.3_Missense_Mutation_p.D537H|MECOM_uc011bpi.1_Missense_Mutation_p.D473H|MECOM_uc003ffn.3_Missense_Mutation_p.D472H|MECOM_uc003ffk.2_Missense_Mutation_p.D472H|MECOM_uc003ffl.2_Missense_Mutation_p.D632H|MECOM_uc011bpj.1_Missense_Mutation_p.D660H|MECOM_uc011bpk.1_Missense_Mutation_p.D462H|MECOM_uc010hwn.2_Missense_Mutation_p.D660H	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	472					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TTTATAGAATCATTCACAGCT	0.398												
MYNN	55892	broad.mit.edu	37	3	169492270	169492270	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:169492270C>G	uc003fft.2	+	2	616	c.187C>G	c.(187-189)CTT>GTT	p.L63V	MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Missense_Mutation_p.L63V|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.L63V	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	63	BTB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAATGTCTTTCTTGATCAGAG	0.383												
TTC14	151613	broad.mit.edu	37	3	180321029	180321029	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180321029C>G	uc003fkk.2	+	3	536	c.404C>G	c.(403-405)TCT>TGT	p.S135C	TTC14_uc003fkl.2_Missense_Mutation_p.S135C|TTC14_uc003fkm.2_Missense_Mutation_p.S135C	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	135	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTAGTTCTATTCGGGAA	0.383												
TTC14	151613	broad.mit.edu	37	3	180321108	180321108	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180321108C>T	uc003fkk.2	+	3	615	c.483C>T	c.(481-483)ATC>ATT	p.I161I	TTC14_uc003fkl.2_Silent_p.I161I|TTC14_uc003fkm.2_Silent_p.I161I	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	161	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTTAGAAATCACAGTAAGTT	0.358												
TTC14	151613	broad.mit.edu	37	3	180322068	180322068	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180322068C>G	uc003fkk.2	+	4	674	c.542C>G	c.(541-543)TCA>TGA	p.S181*	TTC14_uc003fkl.2_Nonsense_Mutation_p.S181*|TTC14_uc003fkm.2_Nonsense_Mutation_p.S181*	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	181	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATCCTTTATCATATTACCAA	0.303												
CCDC39	339829	broad.mit.edu	37	3	180397081	180397081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:180397081G>A	uc010hxe.2	-	1	203	c.88C>T	c.(88-90)CAG>TAG	p.Q30*	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	30	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATCTCACCTGATCTTCCAGT	0.542												
DVL3	1857	broad.mit.edu	37	3	183884725	183884726	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:183884725_183884726CC>AG	uc003fms.2	+	11	1300_1301	c.1160_1161CC>AG	c.(1159-1161)ACC>AAG	p.T387K	DVL3_uc011bqw.1_Missense_Mutation_p.T370K|DVL3_uc003fmt.2_Missense_Mutation_p.T58K|DVL3_uc003fmu.2_Missense_Mutation_p.T219K	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	387					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			ATCACCTCCACCAGCTCCTCCA	0.653												
AP2M1	1173	broad.mit.edu	37	3	183898981	183898981	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:183898981A>G	uc011bqx.1	+	7	831	c.674A>G	c.(673-675)CAG>CGG	p.Q225R	AP2M1_uc003fmw.2_Missense_Mutation_p.Q223R|AP2M1_uc003fmx.2_Missense_Mutation_p.Q153R|AP2M1_uc003fmy.2_Missense_Mutation_p.Q223R|AP2M1_uc011bqy.1_Missense_Mutation_p.Q95R|AP2M1_uc011bqz.1_Missense_Mutation_p.Q41R	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	225	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGAAAAGCAGGGCAAAGGC	0.547												
FGF12	2257	broad.mit.edu	37	3	192053245	192053245	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:192053245T>G	uc003fsx.2	-	3	1145	c.319A>C	c.(319-321)AAT>CAT	p.N107H	FGF12_uc003fsy.2_Missense_Mutation_p.N45H	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	107					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GGAATTAGATTGAAGAGAGCT	0.433												
HAUS3	79441	broad.mit.edu	37	4	2242050	2242050	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr4:2242050C>G	uc003ges.1	-	2	854	c.624G>C	c.(622-624)GAG>GAC	p.E208D	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E208D|HAUS3_uc003get.1_Missense_Mutation_p.E208D	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	208					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						ctgtgctttgctcttcctgac	0.075												
GPRIN3	285513	broad.mit.edu	37	4	90170468	90170468	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr4:90170468G>T	uc003hsm.1	-	2	1313	c.794C>A	c.(793-795)CCT>CAT	p.P265H		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	265										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGTTGGTTGAGGTGTCACAGA	0.557												
TRIM60	166655	broad.mit.edu	37	4	165962340	165962340	+	Silent	SNP	T	T	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr4:165962340T>A	uc003iqy.1	+	3	1286	c.1116T>A	c.(1114-1116)CTT>CTA	p.L372L	TRIM60_uc010iqx.1_Silent_p.L372L	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	372	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ACTGTCTTCTTAGGAACTGGC	0.483												
ADAMTS16	170690	broad.mit.edu	37	5	5200343	5200343	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:5200343G>T	uc003jdl.2	+	9	1550	c.1412G>T	c.(1411-1413)TGG>TTG	p.W471L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W471L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W471L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	471	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GTCTTCTCCTGGTCACCCTGC	0.498												
BDP1	55814	broad.mit.edu	37	5	70820113	70820113	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:70820113A>C	uc003kbp.1	+	25	5998	c.5735A>C	c.(5734-5736)GAA>GCA	p.E1912A	BDP1_uc003kbo.2_Missense_Mutation_p.E1912A|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1912					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCTCCTGAACCTGTTTCT	0.388												
RASGRF2	5924	broad.mit.edu	37	5	80476075	80476075	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:80476075G>T	uc003kha.1	+	18	2768	c.2768G>T	c.(2767-2769)CGT>CTT	p.R923L	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	923					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AACGTCCTCCGTCACTGGGTC	0.388												
VCAN	1462	broad.mit.edu	37	5	82876166	82876166	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:82876166A>C	uc003kii.3	+	15	10460	c.10104A>C	c.(10102-10104)AAA>AAC	p.K3368N	VCAN_uc003kij.3_Missense_Mutation_p.K2381N|VCAN_uc010jau.2_Missense_Mutation_p.K1614N|VCAN_uc003kik.3_Missense_Mutation_p.K627N|VCAN_uc003kil.3_Missense_Mutation_p.K2032N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3368					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATACTTTAAAAATTCCTCAT	0.393												
CEP120	153241	broad.mit.edu	37	5	122724215	122724215	+	Silent	SNP	T	T	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:122724215T>A	uc003ktk.2	-	10	1423	c.1341A>T	c.(1339-1341)GTA>GTT	p.V447V	CEP120_uc011cwq.1_Silent_p.V256V|CEP120_uc010jcz.1_Silent_p.V421V	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	447						centrosome				ovary(1)	1						ATGTTGCTGGTACAGCAATCT	0.398												
FBN2	2201	broad.mit.edu	37	5	127648476	127648476	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:127648476C>A	uc003kuu.2	-	37	5168	c.4729G>T	c.(4729-4731)GGC>TGC	p.G1577C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1577	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TAGCAGTTGCCCACACGGTTG	0.502												
HARS	3035	broad.mit.edu	37	5	140056692	140056692	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:140056692G>C	uc003lgv.2	-	9	915	c.833C>G	c.(832-834)TCC>TGC	p.S278C	HARS_uc003lgu.2_Missense_Mutation_p.S209C|HARS_uc011czm.1_Missense_Mutation_p.S238C|HARS_uc003lgw.2_Missense_Mutation_p.S258C|HARS_uc011czn.1_Missense_Mutation_p.S218C|HARS_uc010jfu.2_Missense_Mutation_p.S278C|HARS_uc011czo.1_Missense_Mutation_p.S204C|HARS_uc011czp.1_Missense_Mutation_p.S164C|HARS_uc011czq.1_Missense_Mutation_p.S168C	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	278					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTCCACCAGGGATACCCCACC	0.532												
ARAP3	64411	broad.mit.edu	37	5	141033869	141033869	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:141033869G>A	uc003llm.2	-	33	4361	c.4283C>T	c.(4282-4284)ACA>ATA	p.T1428I	ARAP3_uc003lll.2_Missense_Mutation_p.T379I|ARAP3_uc011dbe.1_Missense_Mutation_p.T1077I|ARAP3_uc003lln.2_Missense_Mutation_p.T1259I	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1428			T -> P (in a breast cancer sample; somatic mutation).		cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.T1428P(1)		breast(5)|ovary(1)|large_intestine(1)	7						CCACTCCCGTGTGGTGGAGAA	0.567												
KIAA0141	9812	broad.mit.edu	37	5	141314074	141314074	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:141314074G>T	uc003lls.2	+	10	1194	c.1072G>T	c.(1072-1074)GGG>TGG	p.G358W	KIAA0141_uc003llt.2_Missense_Mutation_p.G358W|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	358	TPR 5.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTCCTCGGGGTGCTTTT	0.532												
SPARC	6678	broad.mit.edu	37	5	151043744	151043744	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:151043744C>T	uc003luh.2	-	8	811	c.787G>A	c.(787-789)GAG>AAG	p.E263K	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Missense_Mutation_p.E97K|SPARC_uc003lui.2_Missense_Mutation_p.E263K	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	263	EF-hand.			E->A: Loss of collagen binding.	ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GTGCAATGCTCCATGGGGATG	0.607												
DOCK2	1794	broad.mit.edu	37	5	169141060	169141061	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:169141060_169141061GC>AT	uc003maf.2	+	18	1768_1769	c.1688_1689GC>AT	c.(1687-1689)AGC>AAT	p.S563N	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S55N|DOCK2_uc010jjl.1_Missense_Mutation_p.S81N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	563	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGATGCCAGCGCATACCTGA	0.579												
FOXI1	2299	broad.mit.edu	37	5	169533040	169533040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:169533040G>A	uc003mai.3	+	1	124	c.79G>A	c.(79-81)GAG>AAG	p.E27K	FOXI1_uc003maj.3_Missense_Mutation_p.E27K	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	27	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCCCCCCGAGATGAACCT	0.697									Pendred_syndrome			
RREB1	6239	broad.mit.edu	37	6	7211167	7211167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:7211167G>A	uc003mxc.2	+	7	946	c.556G>A	c.(556-558)GCA>ACA	p.A186T	RREB1_uc010jnw.2_Missense_Mutation_p.A186T|RREB1_uc003mxb.2_Missense_Mutation_p.A186T|RREB1_uc010jnx.2_Missense_Mutation_p.A186T|RREB1_uc003mxd.2_Missense_Mutation_p.A186T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	186					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGACCCAGCACCAGCTAA	0.517												
NEDD9	4739	broad.mit.edu	37	6	11191199	11191199	+	Silent	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:11191199G>A	uc003mzv.2	-	5	1070	c.903C>T	c.(901-903)CAC>CAT	p.H301H	NEDD9_uc010joz.2_Silent_p.H301H|NEDD9_uc003mzw.3_Silent_p.H155H	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	301					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCGGGGGTGGGTGATTCGGGG	0.567												
ATXN1	6310	broad.mit.edu	37	6	16327558	16327558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:16327558C>T	uc003nbt.2	-	8	1955	c.984G>A	c.(982-984)ATG>ATA	p.M328I	ATXN1_uc010jpi.2_Missense_Mutation_p.M328I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	328					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCTCTTCTCCATCTCACCGT	0.672												
FLOT1	10211	broad.mit.edu	37	6	30697834	30697834	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:30697834T>G	uc003nrm.2	-	12	1383	c.1219A>C	c.(1219-1221)AGT>CGT	p.S407R	FLOT1_uc011dmr.1_Missense_Mutation_p.S359R	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	407						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						CTTTCCACACTCTCTGGCAGG	0.542												
TNXB	7148	broad.mit.edu	37	6	32032696	32032696	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:32032696G>A	uc003nzl.2	-	19	6945	c.6743C>T	c.(6742-6744)ACC>ATC	p.T2248I		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2320	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GCCCGAGATGGTGACCCCATC	0.612												
TREML2	79865	broad.mit.edu	37	6	41162572	41162572	+	Splice_Site	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:41162572C>T	uc010jxm.1	-	3	556	c.377_splice	c.e3-1	p.A126_splice		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid						T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTTTGGGGAGCTGAAAGACAG	0.547												
ZNF318	24149	broad.mit.edu	37	6	43323884	43323884	+	Splice_Site	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:43323884C>G	uc003oux.2	-	4	1267	c.1189_splice	c.e4-1	p.L397_splice	ZNF318_uc003ouw.2_Splice_Site	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AACTCTCAAGCTGCAAAGACA	0.423												
PKHD1	5314	broad.mit.edu	37	6	51513896	51513896	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:51513896A>C	uc003pah.1	-	62	11573	c.11297T>G	c.(11296-11298)TTT>TGT	p.F3766C		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3766	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)					CTCATCCAAAAATACCAATTG	0.418												
SLC35A1	10559	broad.mit.edu	37	6	88210354	88210354	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:88210354C>G	uc011dzj.1	+	3	402	c.323C>G	c.(322-324)GCT>GGT	p.A108G	SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Intron|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Missense_Mutation_p.A108G|SLC35A1_uc010kby.2_RNA	NM_006416	NP_006407	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid	108	Helical; (Potential).				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTTTCCTAGCTCTTAGCAAT	0.388												
RTN4IP1	84816	broad.mit.edu	37	6	107067186	107067186	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:107067186T>G	uc003prj.2	-	4	988	c.511A>C	c.(511-513)AAA>CAA	p.K171Q	RTN4IP1_uc010kdd.2_Missense_Mutation_p.K171Q|RTN4IP1_uc003prk.2_Missense_Mutation_p.K71Q	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	171						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GTGAGTGATTTGGGTTTGTGA	0.413												
FIG4	9896	broad.mit.edu	37	6	110048374	110048374	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr6:110048374G>A	uc003ptt.2	+	4	567	c.352G>A	c.(352-354)GAT>AAT	p.D118N	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	118					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)		GAAGATGGCGGATATTGGAGG	0.338												
FGL2	10875	broad.mit.edu	37	7	76825675	76825675	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:76825675C>A	uc003ugb.2	-	2	1281	c.1241G>T	c.(1240-1242)AGT>ATT	p.S414I	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	414	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						GTGTGCCTCACTTACACCAGG	0.438												
SEMA3E	9723	broad.mit.edu	37	7	83021901	83021901	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:83021901C>T	uc003uhy.1	-	14	2103	c.1637G>A	c.(1636-1638)CGG>CAG	p.R546Q		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	546					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TGGGTAATACCGGGAGCAGGA	0.453												
OR2AE1	81392	broad.mit.edu	37	7	99474447	99474447	+	Silent	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:99474447A>G	uc003usc.1	-	1	210	c.210T>C	c.(208-210)GAT>GAC	p.D70D		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CATGCATCAGATCCATGAGGG	0.498												
GIGYF1	64599	broad.mit.edu	37	7	100283967	100283967	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:100283967C>G	uc003uwg.1	-	8	1793	c.784G>C	c.(784-786)GGT>CGT	p.G262R		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	262										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCTCTTCACCACACCCTCCT	0.642												
COG5	10466	broad.mit.edu	37	7	106871079	106871079	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:106871079G>C	uc003ved.2	-	18	2704	c.2179C>G	c.(2179-2181)CGG>GGG	p.R727G	COG5_uc003vec.2_Missense_Mutation_p.R748G|COG5_uc003vee.2_Missense_Mutation_p.R748G	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	727					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CTCAGCATCCGATAGGACTTT	0.343												
CAV1	857	broad.mit.edu	37	7	116199067	116199067	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:116199067G>C	uc003vif.1	+	3	541	c.263G>C	c.(262-264)AGC>ACC	p.S88T	CAV1_uc010lkd.1_Missense_Mutation_p.S57T|CAV1_uc010lke.1_Missense_Mutation_p.S57T|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Missense_Mutation_p.S57T|CAV1_uc010lkf.1_Missense_Mutation_p.S57T	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	88	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			TGGAAGGCCAGCTTCACCACC	0.478												
PLXNA4	91584	broad.mit.edu	37	7	132192842	132192842	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:132192842A>C	uc003vra.3	-	2	840	c.611T>G	c.(610-612)CTG>CGG	p.L204R	PLXNA4_uc003vrc.2_Missense_Mutation_p.L204R|PLXNA4_uc003vrb.2_Missense_Mutation_p.L204R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	204	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTTCTTGGTCAGTTTCCGGCT	0.532												
STRA8	346673	broad.mit.edu	37	7	134927608	134927608	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:134927608G>T	uc011kpx.1	+	3	334	c.334G>T	c.(334-336)GCA>TCA	p.A112S		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	112	Potential.				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus					0						GAAGCTGAAAGGTAATGGAGC	0.418												
LUC7L2	51631	broad.mit.edu	37	7	139106914	139106914	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:139106914C>G	uc003vux.2	+	10	1381	c.1007C>G	c.(1006-1008)TCA>TGA	p.S336*	LUC7L2_uc011kqs.1_Nonsense_Mutation_p.S333*|LUC7L2_uc011kqt.1_Nonsense_Mutation_p.S402*|LUC7L2_uc003vuy.2_Nonsense_Mutation_p.S335*|LUC7L2_uc003vva.2_Nonsense_Mutation_p.S283*	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	336	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					TTCAGATCCTCAAAAGAAAGA	0.373												
TAS2R60	338398	broad.mit.edu	37	7	143140947	143140947	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:143140947G>T	uc011ktg.1	+	1	402	c.402G>T	c.(400-402)AAG>AAT	p.K134N	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	134	Helical; Name=4; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					TCTGGCTAAAGCACAAGTTGT	0.478												
KCNH2	3757	broad.mit.edu	37	7	150645985	150645985	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:150645985G>C	uc003wic.2	-	10	2564	c.2551C>G	c.(2551-2553)CAC>GAC	p.H851D	KCNH2_uc003wib.2_Missense_Mutation_p.H511D|KCNH2_uc011kux.1_Missense_Mutation_p.H755D	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	851	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GACCAGAAGTGGTCGGAGAAC	0.577												
NAT2	10	broad.mit.edu	37	8	18258347	18258347	+	Silent	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:18258347T>C	uc003wyw.1	+	2	941	c.834T>C	c.(832-834)AAT>AAC	p.N278N		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	278					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGGGGAGAAATCTCGTGCCCA	0.313									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
CDH17	1015	broad.mit.edu	37	8	95186418	95186418	+	Nonsense_Mutation	SNP	G	G	C	rs139340016		TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:95186418G>C	uc003ygh.2	-	6	620	c.495C>G	c.(493-495)TAC>TAG	p.Y165*	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Nonsense_Mutation_p.Y165*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	165	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGACAATCTGGTAATAAAGCT	0.458												
PGCP	10404	broad.mit.edu	37	8	97797143	97797143	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:97797143C>T	uc003yhw.2	+	2	184	c.18C>T	c.(16-18)TTC>TTT	p.F6F	PGCP_uc010mbe.2_Silent_p.F6F	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	6					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					TCCTTATCTTCGCATTTTTCG	0.333												
POP1	10940	broad.mit.edu	37	8	99148887	99148887	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:99148887A>T	uc003yij.3	+	8	1289	c.1189A>T	c.(1189-1191)AAA>TAA	p.K397*	POP1_uc011lgv.1_Nonsense_Mutation_p.K397*|POP1_uc003yik.2_Nonsense_Mutation_p.K397*	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	397					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TAAACCAATTAAAAAAATTAT	0.373												
RGS22	26166	broad.mit.edu	37	8	101105676	101105676	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:101105676G>T	uc003yjb.1	-	3	311	c.116C>A	c.(115-117)CCA>CAA	p.P39Q	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.P39Q|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	39					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAAACTCACTGGAAGGCTTAG	0.279												
PKHD1L1	93035	broad.mit.edu	37	8	110416883	110416883	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:110416883G>C	uc003yne.2	+	15	1578	c.1474G>C	c.(1474-1476)GAT>CAT	p.D492H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	492	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAAACAGGAGATGCAGTGAA	0.373										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113694835	113694835	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:113694835C>G	uc003ynu.2	-	16	2672	c.2513G>C	c.(2512-2514)GGA>GCA	p.G838A	CSMD3_uc003yns.2_Missense_Mutation_p.G110A|CSMD3_uc003ynt.2_Missense_Mutation_p.G798A|CSMD3_uc011lhx.1_Missense_Mutation_p.G734A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	838	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATTGGTATTCCAGGATCAGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116426704	116426704	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:116426704C>T	uc003ynz.2	-	6	3852	c.3393G>A	c.(3391-3393)GTG>GTA	p.V1131V	TRPS1_uc011lhy.1_Silent_p.V1135V|TRPS1_uc003yny.2_Silent_p.V1144V|TRPS1_uc010mcy.2_Silent_p.V1131V	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1131	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTAGGCCAGGCACGTGACTCA	0.468									Langer-Giedion_syndrome			
ZNF16	7564	broad.mit.edu	37	8	146156265	146156265	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr8:146156265T>A	uc003zet.2	-	4	2095	c.1908A>T	c.(1906-1908)AAA>AAT	p.K636N	ZNF16_uc003zeu.2_Missense_Mutation_p.K636N	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	636	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GACTGAAGGCTTTCCCACACT	0.547												
PRKACG	5568	broad.mit.edu	37	9	71628351	71628351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:71628351C>T	uc004agy.2	-	1	689	c.658G>A	c.(658-660)GTG>ATG	p.V220M		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	220	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						CACCAGTCCACGGCCTTGTTG	0.617												
C9orf103	414328	broad.mit.edu	37	9	86258577	86258577	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:86258577A>T	uc004amu.1	+	5	460	c.446A>T	c.(445-447)CAG>CTG	p.Q149L	C9orf103_uc004amt.1_Missense_Mutation_p.Q103L|C9orf103_uc010mpv.1_Missense_Mutation_p.Q103L	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN	gluconokinase-like protein	149					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity				0						GAATTATTGCAGTCCCAGTTT	0.458												
ZNF169	169841	broad.mit.edu	37	9	97062923	97062923	+	Silent	SNP	C	C	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:97062923C>T	uc004aum.1	+	5	1188	c.1083C>T	c.(1081-1083)CTC>CTT	p.L361L		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	361	C2H2-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				AGGCATCACTCCTCCAGCACC	0.582												
CDK5RAP2	55755	broad.mit.edu	37	9	123330664	123330664	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:123330664G>A	uc004bkf.2	-	3	311	c.130C>T	c.(130-132)CTC>TTC	p.L44F	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L44F|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L44F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	44					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ACATTTGGGAGCACTGTAAAA	0.438												
ASB6	140459	broad.mit.edu	37	9	132400887	132400887	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:132400887T>C	uc004byf.1	-	5	729	c.563A>G	c.(562-564)CAC>CGC	p.H188R	ASB6_uc004bye.1_Missense_Mutation_p.H113R|ASB6_uc004byg.1_Missense_Mutation_p.T152A|ASB6_uc011mbt.1_Missense_Mutation_p.H109R|ASB6_uc010myx.1_Intron	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	188	ANK 4.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CTCAGTATTGTGGATCTGCAC	0.602												
BRD3	8019	broad.mit.edu	37	9	136907050	136907050	+	Silent	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:136907050G>C	uc004cew.2	-	8	1427	c.1239C>G	c.(1237-1239)GCC>GCG	p.A413A	BRD3_uc004cex.2_Silent_p.A413A	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	413						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGGCATCTTGGCAAACCTCA	0.652			T	NUT|C15orf55	lethal midline carcinoma of young people							
MXRA5	25878	broad.mit.edu	37	X	3235405	3235405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:3235405G>A	uc004crg.3	-	6	6474	c.6317C>T	c.(6316-6318)ACG>ATG	p.T2106M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2106	Ig-like C2-type 5.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677												
DMD	1756	broad.mit.edu	37	X	31947780	31947780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:31947780G>A	uc004dda.1	-	47	7089	c.6845C>T	c.(6844-6846)CCC>CTC	p.P2282L	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.P938L|DMD_uc004dcx.2_Missense_Mutation_p.P941L|DMD_uc004dcz.2_Missense_Mutation_p.P2159L|DMD_uc004dcy.1_Missense_Mutation_p.P2278L|DMD_uc004ddb.1_Missense_Mutation_p.P2274L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2282	Spectrin 16.				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)				TGGGCTTATGGGAGCACTTAC	0.438												
DMD	1756	broad.mit.edu	37	X	32834625	32834625	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:32834625A>G	uc004dda.1	-	6	734	c.490T>C	c.(490-492)TCT>CCT	p.S164P	DMD_uc004dcz.2_Missense_Mutation_p.S41P|DMD_uc004dcy.1_Missense_Mutation_p.S160P|DMD_uc004ddb.1_Missense_Mutation_p.S156P|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.S156P|DMD_uc010ngp.1_Missense_Mutation_p.S41P|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	164	CH 2.|Actin-binding.				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)				AGGCCATCAGACCAGCTGGTG	0.403												
RGAG4	340526	broad.mit.edu	37	X	71350836	71350836	+	Silent	SNP	G	G	T			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:71350836G>T	uc010nlh.1	-	1	916	c.555C>A	c.(553-555)GCC>GCA	p.A185A	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	185								p.S185S(1)		ovary(2)|skin(1)	3	Renal(35;0.156)					CCACCCGCTCGGCGCCCCCGG	0.577												
GPRASP1	9737	broad.mit.edu	37	X	101911869	101911869	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:101911869G>A	uc004ejj.3	+	5	3829	c.3028G>A	c.(3028-3030)GAT>AAT	p.D1010N	GPRASP1_uc004eji.3_Missense_Mutation_p.D1010N|GPRASP1_uc010nod.2_Missense_Mutation_p.D1010N	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1010	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTGGGCAGGAGATGAGGCCCA	0.522												
DCAF12L1	139170	broad.mit.edu	37	X	125686084	125686084	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:125686084T>G	uc004eul.2	-	1	759	c.508A>C	c.(508-510)AAC>CAC	p.N170H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	170	WD 1.									skin(3)|ovary(1)	4						CTGTTGGGGTTTTCGCCGCCG	0.667												
OCRL	4952	broad.mit.edu	37	X	128703265	128703265	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:128703265G>C	uc004euq.2	+	15	1656	c.1491G>C	c.(1489-1491)TGG>TGC	p.W497C	OCRL_uc004eur.2_Missense_Mutation_p.W497C	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	497					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						TTCCAGCCTGGTGTGACCGAA	0.433												
FRMD7	90167	broad.mit.edu	37	X	131220027	131220027	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:131220027T>A	uc004ewn.2	-	6	596	c.418A>T	c.(418-420)AAG>TAG	p.K140*	FRMD7_uc011muy.1_Nonsense_Mutation_p.K125*	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	140	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCCAGATGCTTCCTATCTGTT	0.428												
IGFN1	91156	broad.mit.edu	37	1	201174290	201174290	+	RNA	DEL	T	T	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:201174290delT	uc001gwb.2	+	11		c.1127delT								Homo sapiens eEF1A2 binding protein mRNA, complete cds.											ovary(2)|pancreas(1)	3						ATGTACCCTCTCCAGCCCCTG	0.607												
GLE1	2733	broad.mit.edu	37	9	131295922	131295937	+	Splice_Site	DEL	AGAGAAATTTGTGGTG	AGAGAAATTTGTGGTG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:131295921_131295936CAGAGAAATTTGTGGTG>C	uc004bvj.3	+	10	1569	c.1455_splice	c.e10+1	p.V485_splice	GLE1_uc004bvi.3_Splice_Site_p.V485_splice|GLE1_uc010myd.3_Splice_Site_p.V231_splice	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	485					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TACAAACTGGCAGAGAAATTTGTGGTGAGAAACCTT	0.454												
ALDH6A1	4329	broad.mit.edu	37	14	74537897	74537908	+	Splice_Site	DEL	CCTTCATGCTGT	CCTTCATGCTGT	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:74537896_74537907ACCTTCATGCTGT>A	uc001xpo.3	-	6	829	c.730_splice	c.e6+1	p.A244_splice	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Splice_Site_p.A231_splice|ALDH6A1_uc010asa.3_Splice_Site_p.A89_splice	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	244						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	AAGGGCAGTTACCTTCATGCTGTCCATGGATG	0.439												
IGFN1	91156	broad.mit.edu	37	1	201174290	201174290	+	RNA	DEL	T	T	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr1:201174290delT	uc001gwb.2	+	11		c.1127delT								Homo sapiens eEF1A2 binding protein mRNA, complete cds.											ovary(2)|pancreas(1)	3						ATGTACCCTCTCCAGCCCCTG	0.607												
CALCOCO1	57658	broad.mit.edu	37	12	54108990	54108991	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:54108990_54108991delAG	uc001sef.2	-	10	1523_1524	c.1379_1380delCT	c.(1378-1380)TCTfs	p.S460fs	CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Frame_Shift_Del_p.S375fs|CALCOCO1_uc010son.1_Frame_Shift_Del_p.S337fs|CALCOCO1_uc001seh.2_Frame_Shift_Del_p.S460fs|CALCOCO1_uc009znd.2_Frame_Shift_Del_p.S460fs|CALCOCO1_uc001seg.2_Frame_Shift_Del_p.S285fs|CALCOCO1_uc010soo.1_Frame_Shift_Del_p.S453fs	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	460	Potential.				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						TCACCAGGCTAGAATCCTTCTC	0.550												
DPY19L3	147991	broad.mit.edu	37	19	32949027	32949029	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:32949027_32949029delGAT	uc002ntg.2	+	11	1287_1289	c.1111_1113delGAT	c.(1111-1113)GATdel	p.D371del	DPY19L3_uc002nth.1_In_Frame_Del_p.D371del|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	371						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					CCTGAAGTCAGATGAACACATAT	0.340												
APC	324	broad.mit.edu	37	5	112177228	112177228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr5:112177228delC	uc010jby.2	+	16	6317	c.5937delC	c.(5935-5937)AACfs	p.N1979fs	APC_uc011cvt.1_Frame_Shift_Del_p.N1961fs|APC_uc003kpz.3_Frame_Shift_Del_p.N1979fs|APC_uc003kpy.3_Frame_Shift_Del_p.N1979fs|APC_uc010jbz.2_Frame_Shift_Del_p.N1696fs|APC_uc010jca.2_Frame_Shift_Del_p.N1279fs	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1979	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCAAGAAAACAACAATAAAG	0.338		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
MTMR8	55613	broad.mit.edu	37	X	63568642	63568643	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chrX:63568642_63568643delAG	uc004dvs.2	-	6	697_698	c.629_630delCT	c.(628-630)TCTfs	p.S210fs	MTMR8_uc011mou.1_Frame_Shift_Del_p.S210fs|MTMR8_uc004dvt.1_Frame_Shift_Del_p.S210fs	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	210	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TGTAAAATCCAGAGAGAGGCTG	0.446												
WDR33	55339	broad.mit.edu	37	2	128484243	128484260	+	In_Frame_Del	DEL	CCAGTCTTGGGATCCCAG	CCAGTCTTGGGATCCCAG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr2:128484242_128484259CCCAGTCTTGGGATCCCAG>C	uc002tpg.2	-	7	1016_1033	c.817_834CTGGGATCCCAAGACTGGG>G	c.(817-834)tgggatcccaagactggg>G	p.WDPKTG273del		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	273					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CAAGACTCTGCCCAGTCTTGGGATCCCAGAACTTGATT	0.472												
SLC2A2	6514	broad.mit.edu	37	3	170732334	170732346	+	Frame_Shift_Del	DEL	GGGACCAGAGCAT	GGGACCAGAGCAT	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr3:170732333_170732345AGGGACCAGAGCAT>A	uc003fhe.1	-	2	593_605	c.284_296ATGCTCTGGTCCCT>T	c.(283-297)atgctctggtccctgfs	p.M95fs	SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	95					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GGATACAGACAGGGACCAGAGCATGGTGATTAG	0.474												
AKAP9	10142	broad.mit.edu	37	7	91631763	91631778	+	Frame_Shift_Del	DEL	AAAGCAAAGGAACACT	AAAGCAAAGGAACACT	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:91631762_91631777AAAAGCAAAGGAACACT>A	uc003ulg.3	+	7	2756_2771	c.2531_2546AAAAGCAAAGGAACACT>A	c.(2530-2547)gaaaagcaaaggaacactfs	p.E844fs	AKAP9_uc003ule.2_Frame_Shift_Del_p.E856fs|AKAP9_uc003ulf.3_Frame_Shift_Del_p.E844fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.E469fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	856	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.R847K(1)|p.R859K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAGATTGAAAAGCAAAGGAACACTTTTTCATTT	0.324			T	BRAF	papillary thyroid							
LAMB4	22798	broad.mit.edu	37	7	107744978	107744991	+	Frame_Shift_Del	DEL	CCTCCAAGGAGCAT	CCTCCAAGGAGCAT	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:107744977_107744990GCCTCCAAGGAGCAT>G	uc010ljo.1	-	8	1029_1042	c.945_958ATGCTCCTTGGAGGC>C	c.(943-960)gatgctccttggaggccafs	p.D315fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.D315fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	315	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTGCAGCTGGCCTCCAAGGAGCATCCTGGAAGA	0.486												
WDR91	29062	broad.mit.edu	37	7	134893650	134893658	+	In_Frame_Del	DEL	GGCAGGAAG	GGCAGGAAG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr7:134893649_134893657TGGCAGGAAG>T	uc003vsp.2	-	2	459_467	c.397_405CTTCCTGCCA>A	c.(397-405)ttcctgcca>A	p.FLP133del	WDR91_uc010lmr.2_5'Flank|WDR91_uc010lmq.2_5'Flank	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	133										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTCCGGGGATGGCAGGAAGGGCAGGACA	0.531												
JAK2	3717	broad.mit.edu	37	9	5090820	5090839	+	Frame_Shift_Del	DEL	GTTAAAATTGGAGATTTTGG	GTTAAAATTGGAGATTTTGG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:5090819_5090838AGTTAAAATTGGAGATTTTGG>A	uc010mhm.3	+	20	3080_3099	c.2967_2986AGTTAAAATTGGAGATTTTGG>A	c.(2965-2988)agagttaaaattggagattttgggfs	p.R989fs	JAK2_uc003ziw.3_Frame_Shift_Del_p.R989fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	989	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.V990L(2)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACGAGAACAGAGTTAAAATTGGAGATTTTGGGTTAACCAA	0.355		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial			
GLE1	2733	broad.mit.edu	37	9	131295922	131295937	+	Splice_Site	DEL	AGAGAAATTTGTGGTG	AGAGAAATTTGTGGTG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr9:131295921_131295936CAGAGAAATTTGTGGTG>C	uc004bvj.3	+	10	1569	c.1455_splice	c.e10+1	p.V485_splice	GLE1_uc004bvi.3_Splice_Site_p.V485_splice|GLE1_uc010myd.3_Splice_Site_p.V231_splice	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	485					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TACAAACTGGCAGAGAAATTTGTGGTGAGAAACCTT	0.454												
SLCO1B3	28234	broad.mit.edu	37	12	21036480	21036485	+	In_Frame_Del	DEL	CATAAA	CATAAA	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:21036479_21036484TCATAAA>T	uc010sil.2	+	10	1690_1695	c.1625_1630TCATAAA>T	c.(1624-1632)gtcataaac>gTac	p.IN543del	SLCO1B3_uc001rek.3_In_Frame_Del_p.IN543del|SLCO1B3_uc001rel.3_In_Frame_Del_p.IN543del|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	543					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCAATTCAAGTCATAAACTCTTTGTT	0.359												
ITPR2	3709	broad.mit.edu	37	12	26809422	26809428	+	Frame_Shift_Del	DEL	TGGTTTA	TGGTTTA	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr12:26809421_26809427CTGGTTTA>C	uc001rhg.3	-	18	2664_2670	c.2247_2253TAAACCAG>G	c.(2245-2253)ataaaccagfs	p.I749fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	749					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTGTAGAAATCTGGTTTATGGCCAGAT	0.473												
CDH24	64403	broad.mit.edu	37	14	23523498	23523498	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:23523497_23523497GC>G	uc001wil.3	-	5	1085	c.825_825GC>C	c.(823-825)ggcfs	p.G275fs	CDH24_uc010akf.3_Frame_Shift_Del_p.G275fs|CDH24_uc001win.3_Frame_Shift_Del_p.G275fs	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	275	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACCAGTGTGCCAGGTCCAG	0.647												
ALDH6A1	4329	broad.mit.edu	37	14	74537897	74537908	+	Splice_Site	DEL	CCTTCATGCTGT	CCTTCATGCTGT	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr14:74537896_74537907ACCTTCATGCTGT>A	uc001xpo.3	-	6	829	c.730_splice	c.e6+1	p.A244_splice	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Splice_Site_p.A231_splice|ALDH6A1_uc010asa.3_Splice_Site_p.A89_splice	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	244						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	AAGGGCAGTTACCTTCATGCTGTCCATGGATG	0.439												
ZNF709	163051	broad.mit.edu	37	19	12576446	12576464	+	Frame_Shift_Del	DEL	GTAAAAGTTTTCTTGTTTG	GTAAAAGTTTTCTTGTTTG	-			TCGA-BR-4191-01A-02D-1126-08	TCGA-BR-4191-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd5de9b-f68d-4829-9694-9cb4252e4600	84c5691b-e55b-4703-abe7-02ddf32d42f0	g.chr19:12576445_12576463AGTAAAAGTTTTCTTGTTTG>A	uc002mtv.4	-	3	434_452	c.273_291CAAACAAGAAAACTTTTACT>T	c.(271-291)ccaaacaagaaaacttttactfs	p.P91fs	ZNF709_uc002mtw.4_Frame_Shift_Del_p.P59fs|ZNF709_uc002mtx.4_Frame_Shift_Del_p.P91fs	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTTTTACTCTAGTAAAAGTTTTCTTGTTTGGTTTAGGAT	0.365