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
PLEKHN1	84069	broad.mit.edu	37	1	908657	908657	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:908657G>A	uc001ace.2	+	11	1435	c.1400G>A	c.(1399-1401)CGG>CAG	p.R467Q	PLEKHN1_uc001acd.2_Missense_Mutation_p.R415Q|PLEKHN1_uc001acf.2_Intron	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	467											0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGCAAGGCCCGGGCAGAGGGC	0.706000												
TP73	7161	broad.mit.edu	37	1	3649564	3649564	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:3649564A>G	uc001akp.2	+	14	1942	c.1832A>G	c.(1831-1833)GAC>GGC	p.D611G	TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.D562G|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_3'UTR|TP73_uc010nzk.1_Missense_Mutation_p.D540G|TP73_uc010nzl.1_Missense_Mutation_p.D160G	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	611					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GAGTGGGCGGACTTCGGCTTC	0.706000												
TARDBP	23435	broad.mit.edu	37	1	11073960	11073960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:11073960G>A	uc001art.2	+	2	310	c.176G>A	c.(175-177)GGA>GAA	p.G59E	TARDBP_uc010oap.1_5'UTR	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	59					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		CTGGTAGAAGGAATTCTGCAT	0.502000												
PRAMEF12	390999	broad.mit.edu	37	1	12837238	12837238	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:12837238G>A	uc001aui.2	+	3	975	c.948G>A	c.(946-948)CCG>CCA	p.P316P		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	316										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTGCCCGAGCATCCGTC	0.572000												
MACF1	23499	broad.mit.edu	37	1	39801200	39801200	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:39801200G>A	uc010oiu.1	+	1	4391	c.4260G>A	c.(4258-4260)GTG>GTA	p.V1420V	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2985					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)			AGAGGGAGGTGATTGTAGAAG	0.408000												
NASP	4678	broad.mit.edu	37	1	46083181	46083181	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:46083181C>T	uc001coi.1	+	14	2306	c.2204C>T	c.(2203-2205)GCC>GTC	p.A735V	NASP_uc001coh.1_Missense_Mutation_p.A737V|NASP_uc001coj.1_Missense_Mutation_p.A396V|NASP_uc010olr.1_Missense_Mutation_p.A671V|NASP_uc001col.1_Missense_Mutation_p.A243V	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	735					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GCAAAGAAAGCCAAACAAGAG	0.468000												
EVI5	7813	broad.mit.edu	37	1	93073222	93073222	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:93073222T>G	uc001dox.2	-	15	1852	c.1842A>C	c.(1840-1842)AAA>AAC	p.K614N	EVI5_uc010otf.1_Missense_Mutation_p.K625N|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	614	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GATACTGCACTTTCTCCTGTA	0.363000												
CCDC76	54482	broad.mit.edu	37	1	100613741	100613741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:100613741G>A	uc001dsv.2	+	10	1128	c.1109G>A	c.(1108-1110)TGG>TAG	p.W370*	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	370					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ATGAGTAGTTGGGCAACTTGT	0.433000												
FNDC7	163479	broad.mit.edu	37	1	109275933	109275933	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:109275933G>A	uc001dvx.2	+	10	1919	c.1919G>A	c.(1918-1920)GGC>GAC	p.G640D	FNDC7_uc010ova.1_Missense_Mutation_p.G407D	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	641	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TATAGGCTGGGCCCTAATGGC	0.478000												
KCND3	3752	broad.mit.edu	37	1	112329676	112329676	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:112329676A>G	uc001ebu.1	-	3	1639	c.1159T>C	c.(1159-1161)TGC>CGC	p.C387R	KCND3_uc001ebv.1_Missense_Mutation_p.C387R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	387	Helical; Name=Segment S6; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCAAGGAGCAGATGGAGCCG	0.527000												
AMPD1	270	broad.mit.edu	37	1	115218621	115218621	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:115218621A>C	uc001efe.1	-	11	1476	c.1392T>G	c.(1390-1392)GAT>GAG	p.D464E	AMPD1_uc001eff.1_Missense_Mutation_p.D460E	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	464					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AACGGAACACATCACTAGAGG	0.438000												
IGSF3	3321	broad.mit.edu	37	1	117156429	117156429	+	Silent	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:117156429G>T	uc001egr.1	-	4	1495	c.790C>A	c.(790-792)CGA>AGA	p.R264R	IGSF3_uc001egq.1_Silent_p.R264R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	264	Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAACGCTTTCGGGTCATAGCA	0.582000												
FLG2	388698	broad.mit.edu	37	1	152323428	152323428	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:152323428T>G	uc001ezw.3	-	3	6907	c.6834A>C	c.(6832-6834)CAA>CAC	p.Q2278H	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2278							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGATCCAGCTTGGCCCTGAA	0.517000												
FAM58B	339521	broad.mit.edu	37	1	200183331	200183331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:200183331G>A	uc009wzi.1	+	1	676	c.640G>A	c.(640-642)GAG>AAG	p.E214K		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	214					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					GGTGCCCGCCGAGGTCGAGGC	0.562000												
ESRRG	2104	broad.mit.edu	37	1	216680423	216680423	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:216680423C>T	uc001hkw.1	-	7	1401	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	ESRRG_uc001hky.1_Missense_Mutation_p.R389H|ESRRG_uc009xdp.1_Missense_Mutation_p.R389H|ESRRG_uc001hkz.1_Missense_Mutation_p.R350H|ESRRG_uc010puc.1_Missense_Mutation_p.R389H|ESRRG_uc001hla.1_Missense_Mutation_p.R389H|ESRRG_uc001hlb.1_Missense_Mutation_p.R389H|ESRRG_uc010pud.1_Missense_Mutation_p.R220H|ESRRG_uc001hlc.1_Missense_Mutation_p.R389H|ESRRG_uc001hld.1_Missense_Mutation_p.R389H|ESRRG_uc001hkx.1_Missense_Mutation_p.R424H|ESRRG_uc009xdo.1_Missense_Mutation_p.R389H	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	412					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCAGCTCGACGAGGGTCTTC	0.507000												
WDR26	80232	broad.mit.edu	37	1	224588663	224588663	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:224588663A>C	uc001hop.3	-	9	1333	c.967T>G	c.(967-969)TTC>GTC	p.F323V	WDR26_uc001hoq.3_Missense_Mutation_p.F307V|WDR26_uc010pvh.1_Missense_Mutation_p.F30V	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	470	WD 3.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		CACTGATAGAACTGCCCACGC	0.428000												
LYST	1130	broad.mit.edu	37	1	235916455	235916455	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:235916455A>C	uc001hxj.2	-	26	7524	c.7349T>G	c.(7348-7350)CTT>CGT	p.L2450R	LYST_uc009xga.1_Missense_Mutation_p.L32R	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2450	Poly-Leu.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGAGAAGAAGTAAAAGAGC	0.368000									Chediak-Higashi_syndrome			
GATA3	2625	broad.mit.edu	37	10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:8115837G>A	uc001ika.2	+	6	1740	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	GATA3_uc001ijz.2_Missense_Mutation_p.A396T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	395					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A395fs*54(1)		breast(17)|ovary(3)|central_nervous_system(2)	22						TAACCCGGCCGCCCTCTCCAG	0.562000			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
THNSL1	79896	broad.mit.edu	37	10	25313384	25313384	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:25313384G>C	uc001isi.3	+	3	1561	c.1232G>C	c.(1231-1233)GGA>GCA	p.G411A	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	411					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CCTGAGAATGGAGTAAGTGAT	0.388000												
OR13A1	79290	broad.mit.edu	37	10	45799788	45799788	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:45799788G>A	uc001jcc.1	-	4	392	c.83C>T	c.(82-84)ACC>ATC	p.T28I	OR13A1_uc001jcd.1_Missense_Mutation_p.T24I	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	28	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATGAACTCGGTTACCAACGT	0.517000												
ZWINT	11130	broad.mit.edu	37	10	58119894	58119894	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:58119894C>G	uc001jjx.1	-	3	178	c.141G>C	c.(139-141)CAG>CAC	p.Q47H	ZWINT_uc001jjy.1_Missense_Mutation_p.Q47H|ZWINT_uc001jka.1_Missense_Mutation_p.Q47H|ZWINT_uc009xoy.1_Intron	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	47					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						TGTCTTTCTTCTGAGAGTCCT	0.547000												
HERC4	26091	broad.mit.edu	37	10	69682805	69682805	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:69682805G>A	uc001jng.3	-	26	3368	c.3057C>T	c.(3055-3057)CTC>CTT	p.L1019L	HERC4_uc009xpq.2_Silent_p.L551L|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.L1011L|HERC4_uc009xpr.2_Silent_p.L941L|HERC4_uc001jni.3_Silent_p.L755L	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	1019	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						GGGAAACTGGGAGATACTCCT	0.398000												
CDH23	64072	broad.mit.edu	37	10	73559288	73559288	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:73559288C>G	uc001jrx.3	+	50	7641	c.7264C>G	c.(7264-7266)CTG>GTG	p.L2422V	CDH23_uc001jsg.3_Missense_Mutation_p.L182V|CDH23_uc001jsh.3_Missense_Mutation_p.L182V|CDH23_uc001jsi.3_Missense_Mutation_p.L182V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2422	Cadherin 23.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CACAATCATCCTGACAGTCAC	0.572000												
C10orf28	27291	broad.mit.edu	37	10	99969588	99969588	+	Missense_Mutation	SNP	A	A	T	rs141538234	byFrequency	TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:99969588A>T	uc001kow.3	+	4	2012	c.1717A>T	c.(1717-1719)ATT>TTT	p.I573F	C10orf28_uc001kox.3_Missense_Mutation_p.I573F|C10orf28_uc001koy.3_Missense_Mutation_p.I573F|C10orf28_uc009xvx.2_Missense_Mutation_p.I573F|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	573							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AATTACTGCCATTGAGGAGAG	0.408000												
TOLLIP	54472	broad.mit.edu	37	11	1311591	1311591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:1311591G>A	uc001lte.2	-	3	343	c.232C>T	c.(232-234)CGA>TGA	p.R78*	TOLLIP_uc001ltd.2_Nonsense_Mutation_p.R9*|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Nonsense_Mutation_p.R28*	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	78	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		AGGCGCAGTCGGCAGTAGGGG	0.597000												
PHLDA2	7262	broad.mit.edu	37	11	2950325	2950325	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:2950325C>A	uc001lxa.1	-	1	326	c.270G>T	c.(268-270)TGG>TGT	p.W90C		NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain family A member	90	PH.				apoptosis	cytoplasm|membrane					0		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCGCGTTCCAGCAGCTCT	0.677000												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624742	5624742	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:5624742A>C	uc001mbf.2	+	2	528	c.284A>C	c.(283-285)AAC>ACC	p.N95T	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.N67T|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Missense_Mutation_p.N67T|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.N95T|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	95						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAGCCAGGGAACCTGCGGCCT	0.557000												
OR52E4	390081	broad.mit.edu	37	11	5905586	5905586	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:5905586C>A	uc010qzs.1	+	1	64	c.64C>A	c.(64-66)CTG>ATG	p.L22M	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATACCAGGACTGGACACTTT	0.428000												
ALX4	60529	broad.mit.edu	37	11	44331170	44331170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:44331170G>A	uc001myb.2	-	1	547	c.443C>T	c.(442-444)GCG>GTG	p.A148V		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	148					hair follicle development						0						CTGCAAGGCCGCGCTGTGGCC	0.637000												
EHD1	10938	broad.mit.edu	37	11	64622309	64622309	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:64622309G>A	uc001obu.1	-	5	1356	c.1101C>T	c.(1099-1101)GAC>GAT	p.D367D	EHD1_uc001obt.1_Silent_p.D50D|EHD1_uc001obv.1_Silent_p.D367D|EHD1_uc010rnq.1_Silent_p.D381D	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	367					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						ACTTGCTGAAGTCCTGGGTCT	0.642000												
ADRBK1	156	broad.mit.edu	37	11	67046685	67046685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:67046685C>T	uc009yrn.1	+	3	471	c.205C>T	c.(205-207)CGA>TGA	p.R69*	ADRBK1_uc009yrm.1_Nonsense_Mutation_p.R69*	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	69	RGS.|N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592000												
SLC35F2	54733	broad.mit.edu	37	11	107663450	107663450	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:107663450G>A	uc001pjq.2	-	8	1437	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M	SLC35F2_uc010rvu.1_Missense_Mutation_p.T191M	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	339					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CGGCTCGGCCGTGCGAGTAGG	0.562000												
NPAT	4863	broad.mit.edu	37	11	108043025	108043025	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:108043025G>T	uc001pjz.3	-	13	2788	c.2686C>A	c.(2686-2688)CCT>ACT	p.P896T	NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.P691T	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	896					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCAGTCATAGGTGCAGAATTT	0.438000												
MLL	4297	broad.mit.edu	37	11	118363776	118363776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr11:118363776C>T	uc001pta.2	+	16	5023	c.5000C>T	c.(4999-5001)GCC>GTC	p.A1667V	MLL_uc001ptb.2_Missense_Mutation_p.A1670V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1667					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAATAGGCTGCCAAGCCTCCA	0.428000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
COPS7A	50813	broad.mit.edu	37	12	6839863	6839863	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:6839863T>G	uc001qqj.2	+	7	904	c.665T>G	c.(664-666)GTT>GGT	p.V222G	COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Intron|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.V222G|COPS7A_uc001qqi.2_Missense_Mutation_p.V222G|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.V222G|COPS7A_uc001qqo.2_Missense_Mutation_p.V222G	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN	COP9 complex subunit 7a	222	Potential.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1						ACCATTAAAGTTACGACGGCA	0.557000												
CACNB3	784	broad.mit.edu	37	12	49220834	49220834	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:49220834C>T	uc001rsl.1	+	12	1269	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	CACNB3_uc010sly.1_Silent_p.Y343Y|CACNB3_uc010slz.1_Silent_p.Y355Y|CACNB3_uc001rsk.1_Silent_p.Y203Y	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	356					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	TGGAGGTTTACTGGCGGGCCA	0.612000												
KRT84	3890	broad.mit.edu	37	12	52778914	52778914	+	Silent	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:52778914C>G	uc001sah.1	-	1	504	c.456G>C	c.(454-456)CTG>CTC	p.L152L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	152	Head.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTCAATCTCCAGGTTGAGGG	0.522000												
PFDN5	5204	broad.mit.edu	37	12	53689386	53689386	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:53689386T>G	uc001scl.2	+	1	152	c.35T>G	c.(34-36)CTG>CGG	p.L12R	PFDN5_uc001scm.2_Missense_Mutation_p.L12R|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	12					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						GAGCTGAATCTGCCGCAGCTA	0.587000												
COPZ1	22818	broad.mit.edu	37	12	54741794	54741794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:54741794G>T	uc001sfs.1	+	7	443	c.406G>T	c.(406-408)GAG>TAG	p.E136*	COPZ1_uc001sft.2_Nonsense_Mutation_p.E85*|COPZ1_uc009znm.1_Nonsense_Mutation_p.E144*|COPZ1_uc010sot.1_Nonsense_Mutation_p.E113*	NM_016057	NP_057141	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	136					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0						GGTGATCCTAGAGAGTGATCC	0.527000												
C12orf63	374467	broad.mit.edu	37	12	97045414	97045414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:97045414C>T	uc001tet.1	+	3	274	c.196C>T	c.(196-198)CGG>TGG	p.R66W		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	66										skin(6)|ovary(1)	7						GAACTGCTGTCGGGCCTTATG	0.403000												
SLC15A4	121260	broad.mit.edu	37	12	129293454	129293454	+	Silent	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr12:129293454C>A	uc001uhu.2	-	5	1190	c.1137G>T	c.(1135-1137)CTG>CTT	p.L379L	SLC15A4_uc001uhv.2_RNA	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	solute carrier family 15, member 4	379	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GAGGGATGAGCAGGAGGATGA	0.557000												
TUBA3C	7278	broad.mit.edu	37	13	19753576	19753576	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:19753576C>A	uc009zzj.2	-	2	180	c.131G>T	c.(130-132)GGT>GTT	p.G44V		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	44					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTCGTCCCCACCACCAATGGT	0.562000												
SLC7A1	6541	broad.mit.edu	37	13	30096542	30096542	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:30096542C>A	uc001uso.2	-	8	1488	c.1101G>T	c.(1099-1101)GAG>GAT	p.E367D		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	367	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAGTCCATCCTCAGCCATGG	0.488000												
NBEA	26960	broad.mit.edu	37	13	35756602	35756602	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:35756602A>G	uc001uvb.2	+	29	4974	c.4768A>G	c.(4768-4770)ACA>GCA	p.T1590A	NBEA_uc010abi.2_Missense_Mutation_p.T278A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1590						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAGAGAGACTACAAGAACTGG	0.378000												
FREM2	341640	broad.mit.edu	37	13	39265503	39265503	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:39265503A>C	uc001uwv.2	+	1	4331	c.4022A>C	c.(4021-4023)TAT>TCT	p.Y1341S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1341	Extracellular (Potential).|CSPG 9.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTTTGGTTTATATTATTCGT	0.348000												
TNFSF11	8600	broad.mit.edu	37	13	43181028	43181028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:43181028G>A	uc001uyu.2	+	5	1077	c.928G>A	c.(928-930)GCT>ACT	p.A310T	TNFSF11_uc001uyt.2_Missense_Mutation_p.A237T	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	310	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATACTTTGGGGCTTTTAAAGT	0.413000												
RCBTB1	55213	broad.mit.edu	37	13	50141342	50141342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr13:50141342C>T	uc001vde.1	-	3	335	c.74G>A	c.(73-75)TGT>TAT	p.C25Y		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	25					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCGAAGACACACGCCTTCCG	0.468000												
FOXG1	2290	broad.mit.edu	37	14	29237469	29237469	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:29237469C>T	uc001wqe.2	+	1	1183	c.984C>T	c.(982-984)AAC>AAT	p.N328N		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	328					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGAGTTACAACGGCACCACGT	0.657000												
NIN	51199	broad.mit.edu	37	14	51237170	51237170	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:51237170T>C	uc001wym.2	-	12	1561	c.1370A>G	c.(1369-1371)CAG>CGG	p.Q457R	NIN_uc001wyi.2_Missense_Mutation_p.Q457R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q457R|NIN_uc010tqp.1_Missense_Mutation_p.Q463R|NIN_uc001wyo.2_Missense_Mutation_p.Q457R|NIN_uc001wyp.1_Missense_Mutation_p.Q419R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	457	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCAATTTCCTGTTCAAGTTC	0.453000			T	PDGFRB	MPD							
BMP4	652	broad.mit.edu	37	14	54418777	54418777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:54418777C>T	uc001xal.3	-	2	351	c.164G>A	c.(163-165)CGG>CAG	p.R55Q	BMP4_uc010aoh.2_Missense_Mutation_p.R55Q|BMP4_uc001xao.3_Missense_Mutation_p.R55Q|BMP4_uc001xan.3_Missense_Mutation_p.R55Q	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	55					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						CTCGAAGTCCCGCAGGAGCTC	0.612000												
KTN1	3895	broad.mit.edu	37	14	56079048	56079048	+	Silent	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:56079048T>C	uc001xcb.2	+	3	584	c.282T>C	c.(280-282)GAT>GAC	p.D94D	KTN1_uc001xce.2_Silent_p.D94D|KTN1_uc001xcc.2_Silent_p.D94D|KTN1_uc001xcd.2_Silent_p.D94D|KTN1_uc010trb.1_Silent_p.D94D|KTN1_uc001xcf.1_Silent_p.D94D	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	94	Lumenal (Potential).				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						CAGTAGAAGATGATCAAGTTG	0.368000			T	RET	papillary thryoid							
ACOT2	10965	broad.mit.edu	37	14	74036520	74036520	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:74036520C>T	uc001xon.3	+	1	749	c.576C>T	c.(574-576)CTC>CTT	p.L192L	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	192					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTACTTCCTCCCGCCCGGGG	0.716000												
AHNAK2	113146	broad.mit.edu	37	14	105414259	105414259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:105414259G>A	uc010axc.1	-	7	7649	c.7529C>T	c.(7528-7530)GCG>GTG	p.A2510V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2410V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2510						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTTCGGCGCAGACACATC	0.607000												
NIPA2	81614	broad.mit.edu	37	15	23006656	23006656	+	Silent	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:23006656G>T	uc001yux.2	-	8	1261	c.648C>A	c.(646-648)CCC>CCA	p.P216P	NIPA2_uc001yuy.2_Silent_p.P216P|NIPA2_uc001yuz.2_Silent_p.P216P|NIPA2_uc001yva.2_Silent_p.P197P|NIPA2_uc001yvb.2_Silent_p.P216P|NIPA2_uc010ayb.2_Silent_p.P197P	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	216	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TCCAAGCCAGGGGATGCCGCA	0.512000												
RPUSD2	27079	broad.mit.edu	37	15	40864085	40864085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:40864085G>A	uc001zmd.1	+	2	889	c.889G>A	c.(889-891)GTT>ATT	p.V297I		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	297					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCACGAGCAGGTTCGGGACCG	0.547000												
TYRO3	7301	broad.mit.edu	37	15	41870130	41870130	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:41870130C>G	uc001zof.1	+	19	2553	c.2329C>G	c.(2329-2331)CCG>GCG	p.P777A		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	777	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAAGCAGCGCCCGAGCTTTAC	0.552000												
SMAD3	4088	broad.mit.edu	37	15	67473722	67473722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:67473722C>T	uc002aqj.2	+	6	1100	c.802C>T	c.(802-804)CGC>TGC	p.R268C	SMAD3_uc010ujr.1_Missense_Mutation_p.R163C|SMAD3_uc010ujs.1_Missense_Mutation_p.R224C|SMAD3_uc010ujt.1_Missense_Mutation_p.R73C	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	268	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAATTCGGAGCGCTTCTGCCT	0.607000												
RHBDF1	64285	broad.mit.edu	37	16	112539	112539	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:112539A>C	uc002cfl.3	-	10	1098	c.950T>G	c.(949-951)ATG>AGG	p.M317R	RHBDF1_uc010uty.1_Missense_Mutation_p.M340R|RHBDF1_uc010utz.1_Missense_Mutation_p.M317R|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	317	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCACAGCATCAGGTGGCT	0.677000												
C1QTNF8	390664	broad.mit.edu	37	16	1144784	1144784	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:1144784G>A	uc010uuw.1	-	3	413	c.139C>T	c.(139-141)CTG>TTG	p.L47L		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	47						collagen				skin(1)	1		Hepatocellular(780;0.00369)				CCCCTCCACAGGTCCCTGTCA	0.701000												
UBN1	29855	broad.mit.edu	37	16	4924871	4924871	+	Silent	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:4924871A>G	uc002cyb.2	+	15	2799	c.2460A>G	c.(2458-2460)CCA>CCG	p.P820P	UBN1_uc010uxw.1_Silent_p.P820P|UBN1_uc002cyc.2_Silent_p.P820P	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	820					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TCACGCCCCCATCTCCATTTG	0.582000												
MYH11	4629	broad.mit.edu	37	16	15835704	15835704	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:15835704C>G	uc002ddy.2	-	21	2672	c.2565G>C	c.(2563-2565)CAG>CAC	p.Q855H	MYH11_uc002ddv.2_Missense_Mutation_p.Q862H|MYH11_uc002ddw.2_Missense_Mutation_p.Q855H|MYH11_uc002ddx.2_Missense_Mutation_p.Q862H|MYH11_uc010bvg.2_Missense_Mutation_p.Q687H	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	855	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CCTCCTTGGCCTGCATCTCCT	0.532000			T	CBFB	AML							
SRCAP	10847	broad.mit.edu	37	16	30750475	30750475	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:30750475G>C	uc002dze.1	+	34	9499	c.9114G>C	c.(9112-9114)TTG>TTC	p.L3038F	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.L2833F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3038					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)			GCTGTGGATTGGGGAGGCGAC	0.652000												
ZNF646	9726	broad.mit.edu	37	16	31091735	31091735	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:31091735G>C	uc002eap.2	+	2	4379	c.4090G>C	c.(4090-4092)GTG>CTG	p.V1364L		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1364	C2H2-type 25.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GCGCACAGCTGTGCGTTGCGC	0.662000												
TSNAXIP1	55815	broad.mit.edu	37	16	67859121	67859121	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:67859121G>C	uc002euj.2	+	7	992	c.598G>C	c.(598-600)GAC>CAC	p.D200H	TSNAXIP1_uc010cep.2_Missense_Mutation_p.D64H|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.D77H|TSNAXIP1_uc002euf.3_5'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.D254H|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.D185H|TSNAXIP1_uc002eug.3_5'UTR|TSNAXIP1_uc002euh.3_5'UTR|TSNAXIP1_uc002eui.3_5'UTR|TSNAXIP1_uc002euk.2_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	200					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCTCATCGCAGACCTGAATGA	0.542000												
AP1G1	164	broad.mit.edu	37	16	71823368	71823368	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:71823368G>A	uc010cgg.2	-	2	329	c.15C>T	c.(13-15)ATC>ATT	p.I5I	AP1G1_uc002fba.2_Silent_p.I5I|AP1G1_uc002fbb.2_Silent_p.I28I|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.I87I	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	5					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				CCCGCAATCTGATGGGGGCTG	0.438000												
TUBB3	10381	broad.mit.edu	37	16	90001646	90001646	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr16:90001646C>G	uc002fph.1	+	4	852	c.787C>G	c.(787-789)CTG>GTG	p.L263V	TUBB3_uc002fpf.2_Missense_Mutation_p.L610V|TUBB3_uc010ciz.1_Missense_Mutation_p.L191V|TUBB3_uc002fpg.1_Missense_Mutation_p.L117V|TUBB3_uc002fpi.1_Missense_Mutation_p.L191V|TUBB3_uc002fpj.1_Missense_Mutation_p.L191V|TUBB3_uc010cjb.1_Missense_Mutation_p.L117V|TUBB3_uc002fpk.1_Missense_Mutation_p.L117V	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	263					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTTCCCGCGCCTGCACTTCTT	0.677000												
SERPINF2	5345	broad.mit.edu	37	17	1650662	1650662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:1650662G>A	uc002ftk.1	+	7	648	c.571G>A	c.(571-573)GTG>ATG	p.V191M	SERPINF2_uc010vqr.1_Missense_Mutation_p.V127M	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	191					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGCAAAGCCCGTGAGCCTGAC	0.552000												
OR3A3	8392	broad.mit.edu	37	17	3324390	3324390	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:3324390T>G	uc010vrd.1	+	1	529	c.529T>G	c.(529-531)TTC>GTC	p.F177V		NM_012373	NP_036505	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CACGCTCAACTTCTGTGGCCC	0.567000												
EIF4A1	1973	broad.mit.edu	37	17	7481767	7481767	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:7481767T>C	uc002gho.1	+	19	2509	c.1184T>C	c.(1183-1185)ATT>ACT	p.I395T	EIF4A1_uc002ghr.1_3'UTR|EIF4A1_uc002ghq.1_3'UTR|EIF4A1_uc002ghp.1_Missense_Mutation_p.I395T|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	395	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						AACACCTCCATTGAGGAAATG	0.552000												
KRTAP4-3	85290	broad.mit.edu	37	17	39323897	39323897	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:39323897C>T	uc010cxl.2	-	1	528	c.528G>A	c.(526-528)CCG>CCA	p.P176P		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	176	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCGGGCAGCTGA	0.592000												
MPP2	4355	broad.mit.edu	37	17	41959741	41959741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:41959741G>A	uc010wip.1	-	6	784	c.727C>T	c.(727-729)CGC>TGC	p.R243C	MPP2_uc002ien.1_Missense_Mutation_p.R215C|MPP2_uc010wim.1_Missense_Mutation_p.R187C|MPP2_uc002ieo.1_Missense_Mutation_p.R198C|MPP2_uc010win.1_Missense_Mutation_p.R59C|MPP2_uc010wio.1_Missense_Mutation_p.R187C|MPP2_uc010czm.1_Missense_Mutation_p.R181C	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	222	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGCAGTGCGCGGGGGTCACTG	0.652000												
MRC2	9902	broad.mit.edu	37	17	60758196	60758196	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:60758196T>A	uc002jad.2	+	17	2911	c.2509T>A	c.(2509-2511)TAC>AAC	p.Y837N	MRC2_uc002jae.2_5'UTR|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	837	Extracellular (Potential).|C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGAGGCCGAGTACAAGTTCTT	0.701000												
NUP85	79902	broad.mit.edu	37	17	73201747	73201747	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:73201747C>A	uc002jng.1	+	1	151	c.-109C>A	c.(-111--107)CGCTG>CGATG		NUP85_uc010dgd.1_Translation_Start_Site|NUP85_uc010wrv.1_Translation_Start_Site	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTTGCAGGCGCTGCAGGAGAC	0.677000												
SPHK1	8877	broad.mit.edu	37	17	74382950	74382950	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:74382950G>A	uc002jrf.1	+	8	1247	c.438G>A	c.(436-438)CTG>CTA	p.L146L	SPHK1_uc002jrg.1_Silent_p.L95L|SPHK1_uc002jrh.2_Silent_p.L160L|SPHK1_uc002jrj.2_Silent_p.L232L|SPHK1_uc002jri.2_Silent_p.L146L|SPHK1_uc002jrk.3_Silent_p.L146L|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	146	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GCCGCCGGCTGCTGTCACCCA	0.587000												
NPTX1	4884	broad.mit.edu	37	17	78449909	78449909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr17:78449909G>A	uc002jyp.1	-	1	496	c.338C>T	c.(337-339)TCG>TTG	p.S113L		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	113					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTTCTTGCCCGAGCCGGGCTG	0.572000												
ARHGAP28	79822	broad.mit.edu	37	18	6882152	6882152	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:6882152T>C	uc010wzi.1	+	10	1014	c.776T>C	c.(775-777)CTT>CCT	p.L259P	ARHGAP28_uc002knc.2_Missense_Mutation_p.L384P|ARHGAP28_uc002knd.2_Missense_Mutation_p.L277P|ARHGAP28_uc002kne.2_Missense_Mutation_p.L277P|ARHGAP28_uc002knf.2_Missense_Mutation_p.L268P			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	259					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378000												
RALBP1	10928	broad.mit.edu	37	18	9530858	9530858	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:9530858G>A	uc002kob.2	+	7	1597	c.1374G>A	c.(1372-1374)GAG>GAA	p.E458E	RALBP1_uc002koc.2_Silent_p.E458E	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	458	Interacts with RalA.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						TTGCACAAGAGATAGCCAGTC	0.348000												
CHST9	83539	broad.mit.edu	37	18	24496429	24496429	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:24496429C>A	uc002kwd.2	-	5	1324	c.1126G>T	c.(1126-1128)GAT>TAT	p.D376Y	C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D291Y|CHST9_uc002kwe.2_Missense_Mutation_p.D376Y	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	376	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)|skin(1)	3	all_lung(6;0.0145)|Ovarian(20;0.124)					TAATTGGCATCTTCTTCCAAA	0.408000												
FHOD3	80206	broad.mit.edu	37	18	34297852	34297852	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:34297852T>C	uc002kzt.1	+	15	2112	c.2015T>C	c.(2014-2016)CTC>CCC	p.L672P	FHOD3_uc002kzs.1_Missense_Mutation_p.L689P|FHOD3_uc010dmz.1_Missense_Mutation_p.L404P|FHOD3_uc010dna.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	672					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGCGACATCCTCACCAACAAA	0.547000												
SMAD4	4089	broad.mit.edu	37	18	48591940	48591940	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr18:48591940C>G	uc010xdp.1	+	9	1641	c.1103C>G	c.(1102-1104)TCC>TGC	p.S368C	SMAD4_uc002lfb.3_Missense_Mutation_p.S213C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	368	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTCAACTCTCCAATGTCCAC	0.403000									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
C3	718	broad.mit.edu	37	19	6712323	6712323	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:6712323C>A	uc002mfm.2	-	11	1276	c.1214G>T	c.(1213-1215)GGC>GTC	p.G405V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	405					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTGGCCACGCCATCTCCCTG	0.617000												
ADAMTS10	81794	broad.mit.edu	37	19	8668647	8668647	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:8668647C>T	uc002mkj.1	-	5	831	c.557G>A	c.(556-558)CGT>CAT	p.R186H	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	186					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GTGGGGGTGACGCAGAGAGGA	0.587000												
MUC16	94025	broad.mit.edu	37	19	9048395	9048395	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:9048395G>A	uc002mkp.2	-	5	33440	c.33236C>T	c.(33235-33237)GCA>GTA	p.A11079V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11081	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						GCTGGCTTCTGCCCCATGACT	0.498000												
MYO9B	4650	broad.mit.edu	37	19	17298761	17298761	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:17298761C>T	uc010eak.2	+	19	2747	c.2595C>T	c.(2593-2595)GAC>GAT	p.D865D	MYO9B_uc002nfi.2_Silent_p.D865D|MYO9B_uc002nfj.1_Silent_p.D865D	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	865	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						TGTGCTTTGACGACGAGCTGG	0.602000												
DMRTC2	63946	broad.mit.edu	37	19	42355654	42355654	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:42355654C>G	uc002ors.2	+	9	1077	c.994C>G	c.(994-996)CCT>GCT	p.P332A	DMRTC2_uc002orr.1_3'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.P383A	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	332	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						GCCTGTAGCTCCTGCTGGAGG	0.438000												
EHD2	30846	broad.mit.edu	37	19	48220033	48220033	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:48220033T>G	uc002phj.3	+	2	414	c.164T>G	c.(163-165)TTC>TGC	p.F55C	EHD2_uc010xyu.1_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	55					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GACGCAGACTTCGACGGCAAG	0.672000												
BCAT2	587	broad.mit.edu	37	19	49303355	49303355	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:49303355A>T	uc002pkr.2	-	5	451	c.414T>A	c.(412-414)AGT>AGA	p.S138R	BCAT2_uc002pkp.2_Missense_Mutation_p.S98R|BCAT2_uc002pkq.3_Missense_Mutation_p.S98R|BCAT2_uc002pks.2_Missense_Mutation_p.S98R|BCAT2_uc002pkt.2_Missense_Mutation_p.S46R|BCAT2_uc010emh.1_Missense_Mutation_p.S138R|BCAT2_uc010emi.1_Missense_Mutation_p.S46R|BCAT2_uc002pku.1_Missense_Mutation_p.S98R|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	138						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GCTTGTCGAAACTCTGGGTGG	0.672000												
PRMT1	3276	broad.mit.edu	37	19	50191446	50191446	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:50191446G>C	uc010enf.1	+	11	1102	c.1060G>C	c.(1060-1062)GAC>CAC	p.D354H	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.D330H|PRMT1_uc002ppe.2_Missense_Mutation_p.D336H|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.D301H|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	335						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CATCGACCTGGACTTCAAGGG	0.697000												
LRRC4B	94030	broad.mit.edu	37	19	51021627	51021627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:51021627G>A	uc002pss.2	-	3	1480	c.1343C>T	c.(1342-1344)TCG>TTG	p.S448L		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	448	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGCGTGGCCGAGGCGGTGGT	0.423000												
NLRP12	91662	broad.mit.edu	37	19	54304558	54304558	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr19:54304558C>T	uc002qch.3	-	7	2899	c.2679G>A	c.(2677-2679)CTG>CTA	p.L893L	NLRP12_uc010eqw.2_Silent_p.L176L|NLRP12_uc002qci.3_Silent_p.L893L|NLRP12_uc002qcj.3_Silent_p.L894L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	893	LRR 3.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCAGCTCATTCAGGCTCAGGT	0.622000												
BIRC6	57448	broad.mit.edu	37	2	32673903	32673903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:32673903G>A	uc010ezu.2	+	22	4659	c.4525G>A	c.(4525-4527)GAT>AAT	p.D1509N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1509					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGTCCTCTTTGATTTGGAGAT	0.338000												
LHCGR	3973	broad.mit.edu	37	2	48915121	48915121	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:48915121T>G	uc002rwu.3	-	11	1885	c.1815A>C	c.(1813-1815)AAA>AAC	p.K605N	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	605	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCAGTAAAACTTTAGAGTTGG	0.378000									Familial_Male-Limited_Precocious_Puberty			
SMYD5	10322	broad.mit.edu	37	2	73453032	73453032	+	Missense_Mutation	SNP	G	G	T	rs147445448		TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:73453032G>T	uc002siw.2	+	13	1244	c.1215G>T	c.(1213-1215)GAG>GAT	p.E405D	SMYD5_uc010yre.1_Missense_Mutation_p.E289D|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	405	Glu-rich.						metal ion binding				0						aggaagGAGAGCCAGAAGATG	0.458000												
SEMA4F	10505	broad.mit.edu	37	2	74907203	74907203	+	Missense_Mutation	SNP	C	C	T	rs149150975		TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:74907203C>T	uc002sna.1	+	14	2291	c.2180C>T	c.(2179-2181)CCG>CTG	p.P727L	SEMA4F_uc010ffr.1_Missense_Mutation_p.P339L|SEMA4F_uc002snb.1_Missense_Mutation_p.P339L|SEMA4F_uc002snc.1_Missense_Mutation_p.P572L	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	727	Cytoplasmic (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GAGCGGTTGCCGCTGGCCCTG	0.627000												
LYG1	129530	broad.mit.edu	37	2	99901213	99901213	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:99901213G>C	uc002szy.2	-	6	654	c.404C>G	c.(403-405)ACT>AGT	p.T135S	MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Missense_Mutation_p.T135S	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	lysozyme g-like protein 1 precursor	135					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0						GATTCTAGTAGTCAGAACTTC	0.512000												
LRP1B	53353	broad.mit.edu	37	2	141533778	141533778	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:141533778A>C	uc002tvj.1	-	33	6361	c.5389T>G	c.(5389-5391)TTA>GTA	p.L1797V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1797	Extracellular (Potential).|LDL-receptor class B 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTGGGCTAAGTTTTGGTCT	0.338000										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141598583	141598583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:141598583G>A	uc002tvj.1	-	30	5990	c.5018C>T	c.(5017-5019)ACG>ATG	p.T1673M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1673	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAATTTGCGTTTCATCAAA	0.418000										TSP Lung(27;0.18)		
MARCH7	64844	broad.mit.edu	37	2	160602345	160602345	+	Silent	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:160602345A>C	uc002uax.2	+	4	533	c.411A>C	c.(409-411)ACA>ACC	p.T137T	MARCH7_uc010foq.2_Silent_p.T137T|MARCH7_uc010zcn.1_Intron|MARCH7_uc010for.2_Silent_p.T99T|MARCH7_uc002uay.2_5'Flank	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	137	Ser-rich.						ligase activity|zinc ion binding				0						CATTTGGAACAGACTTAATGA	0.348000												
SCN3A	6328	broad.mit.edu	37	2	166019183	166019183	+	Missense_Mutation	SNP	C	C	T	rs142323631		TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:166019183C>T	uc002ucx.2	-	8	1342	c.850G>A	c.(850-852)GAT>AAT	p.D284N	SCN3A_uc002ucy.2_Missense_Mutation_p.D284N|SCN3A_uc002ucz.2_Missense_Mutation_p.D284N|SCN3A_uc002uda.1_Missense_Mutation_p.D153N|SCN3A_uc002udb.1_Missense_Mutation_p.D153N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	284						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AAAGCAGAATCGCTTGGGGGC	0.438000												
TTN	7273	broad.mit.edu	37	2	179433673	179433673	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:179433673T>G	uc010zfg.1	-	275	69706	c.69482A>C	c.(69481-69483)AAA>ACA	p.K23161T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K16856T|TTN_uc010zfi.1_Missense_Mutation_p.K16789T|TTN_uc010zfj.1_Missense_Mutation_p.K16664T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24088							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAATGATTTTACTGCCACC	0.423000												
TTN	7273	broad.mit.edu	37	2	179437148	179437148	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:179437148T>G	uc010zfg.1	-	275	66231	c.66007A>C	c.(66007-66009)ACA>CCA	p.T22003P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T15698P|TTN_uc010zfi.1_Missense_Mutation_p.T15631P|TTN_uc010zfj.1_Missense_Mutation_p.T15506P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22930							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCAGTTTGTTGCAACAGTT	0.438000												
TTN	7273	broad.mit.edu	37	2	179457585	179457585	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:179457585T>G	uc010zfg.1	-	249	51781	c.51557A>C	c.(51556-51558)AAG>ACG	p.K17186T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10881T|TTN_uc010zfi.1_Missense_Mutation_p.K10814T|TTN_uc010zfj.1_Missense_Mutation_p.K10689T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18113							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCTAAACTTATAGGTTTG	0.458000												
MAP2	4133	broad.mit.edu	37	2	210560638	210560638	+	Silent	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:210560638G>T	uc002vde.1	+	7	3992	c.3744G>T	c.(3742-3744)CTG>CTT	p.L1248L	MAP2_uc002vdc.1_Silent_p.L1248L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.L1244L	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1248					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGATAAACTGCTCTTCCGCT	0.488000												
ERBB4	2066	broad.mit.edu	37	2	212488720	212488720	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:212488720A>C	uc002veg.1	-	18	2227	c.2129T>G	c.(2128-2130)CTT>CGT	p.L710R	ERBB4_uc002veh.1_Missense_Mutation_p.L710R|ERBB4_uc010zji.1_Missense_Mutation_p.L700R|ERBB4_uc010zjj.1_Missense_Mutation_p.L700R|ERBB4_uc010fut.1_Missense_Mutation_p.L710R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	710	Cytoplasmic (Potential).			L->N: Strongly reduced autophosphorylation.	cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAAATACGAAGTTGAGCTTG	0.413000										TSP Lung(8;0.080)		
ABCB6	10058	broad.mit.edu	37	2	220075736	220075736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:220075736C>T	uc002vkc.1	-	15	2340	c.2063G>A	c.(2062-2064)CGT>CAT	p.R688H	ABCB6_uc010fwe.1_Missense_Mutation_p.R642H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	688	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGTGACACGGCCGTAACG	0.547000												
ACCN4	55515	broad.mit.edu	37	2	220397112	220397112	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:220397112T>G	uc002vma.2	+	4	1326	c.1312T>G	c.(1312-1314)TCG>GCG	p.S438A	ACCN4_uc010fwi.1_Missense_Mutation_p.S438A|ACCN4_uc010fwj.1_Missense_Mutation_p.S438A|ACCN4_uc002vly.1_3'UTR|ACCN4_uc002vlz.2_Missense_Mutation_p.S438A|ACCN4_uc002vmb.2_Missense_Mutation_p.S92A	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	438	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		TCAGGGCTACTCGGCCTACAG	0.657000												
SNX21	90203	broad.mit.edu	37	20	44469462	44469462	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:44469462G>A	uc002xpv.1	+	4	721	c.632G>A	c.(631-633)CGC>CAC	p.R211H	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R22H|SNX21_uc002xpx.2_Missense_Mutation_p.R201H|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R22H|SNX21_uc002xpz.1_Missense_Mutation_p.R22H	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	211	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ACCATTGCCCGCCGTAGCCGG	0.637000												
CASS4	57091	broad.mit.edu	37	20	55027211	55027211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:55027211G>A	uc002xxp.2	+	6	1204	c.979G>A	c.(979-981)GTC>ATC	p.V327I	CASS4_uc002xxq.3_Missense_Mutation_p.V327I|CASS4_uc002xxr.2_Missense_Mutation_p.V327I|CASS4_uc010zze.1_Missense_Mutation_p.V273I|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	327					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GGATGAAGATGTCAGCTACAA	0.438000												
NPEPL1	79716	broad.mit.edu	37	20	57273760	57273760	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:57273760C>T	uc010zzs.1	+	4	623	c.528C>T	c.(526-528)GAC>GAT	p.D176D	NPEPL1_uc010zzr.1_Silent_p.D128D|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.D148D|NPEPL1_uc002xzp.2_Silent_p.D64D	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	176					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ATGCCACAGACGGCGTGCGGC	0.602000												
GNAS	2778	broad.mit.edu	37	20	57429490	57429490	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr20:57429490C>T	uc002xzw.2	+	1	1455	c.1170C>T	c.(1168-1170)ACC>ACT	p.T390T	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAGCGGATACCGCTGCCAGGG	0.687000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
KRTAP10-4	386672	broad.mit.edu	37	21	45993856	45993856	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr21:45993856C>G	uc002zfk.1	+	1	251	c.221C>G	c.(220-222)CCC>CGC	p.P74R	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	74	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						ACCTGCGAGCCCAGCCCCTGC	0.711000												
CSF2RB	1439	broad.mit.edu	37	22	37334402	37334402	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr22:37334402T>C	uc003aqa.3	+	14	2769	c.2552T>C	c.(2551-2553)CTA>CCA	p.L851P	CSF2RB_uc003aqc.3_Missense_Mutation_p.L857P	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	851	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ATCAAGAACCTAGACCAGGCT	0.612000												
SREBF2	6721	broad.mit.edu	37	22	42264622	42264622	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr22:42264622G>A	uc003bbi.2	+	3	715	c.546G>A	c.(544-546)CAG>CAA	p.Q182Q	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_5'Flank	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	182	Cytoplasmic (Potential).|Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						AAGTCCTTCAGCCTCAAGTCC	0.537000												
TUBGCP6	85378	broad.mit.edu	37	22	50659280	50659280	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr22:50659280T>C	uc003bkb.1	-	16	4020	c.3508A>G	c.(3508-3510)AGC>GGC	p.S1170G	TUBGCP6_uc003bka.1_Missense_Mutation_p.S257G|TUBGCP6_uc010har.1_Missense_Mutation_p.S1162G|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1170	9 X 27 AA tandem repeats.|6.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCCCAAGCTGATGCTGGCA	0.637000												
RPL15	6138	broad.mit.edu	37	3	23960861	23960861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:23960861C>T	uc003ccn.2	+	4	520	c.484C>T	c.(484-486)CGT>TGT	p.R162C	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Silent_p.C121C|RPL15_uc011awj.1_Missense_Mutation_p.A106V|RPL15_uc003cco.2_Intron|RPL15_uc003ccp.2_Missense_Mutation_p.R162C|RPL15_uc003ccq.2_Missense_Mutation_p.R162C|RPL15_uc003ccr.2_Missense_Mutation_p.R162C	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1						CAGGGAGATGCGTGGGCTGAC	0.527000												
DLEC1	9940	broad.mit.edu	37	3	38138170	38138170	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:38138170A>T	uc003cho.1	+	15	2303	c.2282A>T	c.(2281-2283)TAT>TTT	p.Y761F	DLEC1_uc003chp.1_Missense_Mutation_p.Y761F|DLEC1_uc010hgv.1_Missense_Mutation_p.Y761F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	761					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTAGAGCCATATGCCCTCATC	0.512000												
KIF9	64147	broad.mit.edu	37	3	47282462	47282462	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:47282462T>C	uc010hjp.2	-	18	2357	c.1753A>G	c.(1753-1755)AAG>GAG	p.K585E	KIF9_uc003cqx.2_Missense_Mutation_p.K585E|KIF9_uc003cqy.2_Missense_Mutation_p.K520E|KIF9_uc011bat.1_RNA|uc003cqw.1_Intron	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	585					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGCTCATTCTTAAACTCCTCA	0.483000												
RNF123	63891	broad.mit.edu	37	3	49757993	49757993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:49757993C>T	uc003cxh.2	+	36	3636	c.3550C>T	c.(3550-3552)CGC>TGC	p.R1184C	RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1184						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTTCCAGCTACGCTCAATATG	0.612000												
IL17RB	55540	broad.mit.edu	37	3	53898872	53898872	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:53898872G>C	uc003dha.2	+	11	1085	c.1046G>C	c.(1045-1047)TGT>TCT	p.C349S		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	349	SEFIR.|Cytoplasmic (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CACACAATTTGTTACTTCACT	0.413000												
BOC	91653	broad.mit.edu	37	3	112969655	112969655	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:112969655C>T	uc003dzx.2	+	4	972	c.351C>T	c.(349-351)AGC>AGT	p.S117S	BOC_uc010hqi.2_Silent_p.S117S|BOC_uc003dzy.2_Silent_p.S117S|BOC_uc003dzz.2_Silent_p.S117S|BOC_uc003dzw.1_Silent_p.S117S|BOC_uc003eaa.1_Silent_p.S117S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	117	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CTGTGGCCAGCGTGCCAGCCA	0.632000												
ZBTB20	26137	broad.mit.edu	37	3	114069258	114069258	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:114069258G>A	uc003ebi.2	-	4	1847	c.1667C>T	c.(1666-1668)GCG>GTG	p.A556V	ZBTB20_uc003ebj.2_Missense_Mutation_p.A483V|ZBTB20_uc010hqp.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebk.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebl.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebm.2_Missense_Mutation_p.A483V|ZBTB20_uc003ebn.2_Missense_Mutation_p.A483V|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGGCTGTGGCGCTGGCAGCTG	0.607000												
CLRN1	7401	broad.mit.edu	37	3	150690403	150690403	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:150690403C>T	uc003eyk.1	-	1	384	c.93G>A	c.(91-93)CCG>CCA	p.P31P	CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	31					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGATCCACAACGGTGTCCCCA	0.517000												
LEPREL1	55214	broad.mit.edu	37	3	189675736	189675736	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:189675736G>C	uc011bsk.1	-	15	2480	c.2092C>G	c.(2092-2094)CAT>GAT	p.H698D	LEPREL1_uc003fsg.2_Missense_Mutation_p.H517D	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	698					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCAGTTCATGCTTCCCTTGC	0.308000											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GRXCR1	389207	broad.mit.edu	37	4	42895566	42895566	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:42895566A>G	uc003gwt.2	+	1	283	c.283A>G	c.(283-285)AGA>GGA	p.R95G		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	95					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						TTTTGGTACAAGAAGAGTCAA	0.438000												
IGJ	3512	broad.mit.edu	37	4	71522133	71522133	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:71522133G>T	uc003hfn.3	-	4	534	c.393C>A	c.(391-393)TGC>TGA	p.C131*	IGJ_uc010ihz.2_Nonsense_Mutation_p.C147*	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	131					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			CAGCTGTGTAGCACTTGTTTC	0.453000												
C4orf36	132989	broad.mit.edu	37	4	87808972	87808972	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:87808972T>C	uc003hqe.3	-	4	608	c.295A>G	c.(295-297)ATT>GTT	p.I99V		NM_144645	NP_653246	Q96KX1	CD036_HUMAN	hypothetical protein LOC132989	99											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AGAAGCTGAATTTCCTTAGAT	0.393000												
BMPR1B	658	broad.mit.edu	37	4	96075778	96075778	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:96075778A>G	uc003htm.3	+	13	1737	c.1463A>G	c.(1462-1464)AAG>AGG	p.K488R	BMPR1B_uc010ilb.2_Missense_Mutation_p.K488R|BMPR1B_uc003htn.3_Missense_Mutation_p.K488R	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	488	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CTGCGGGTTAAGAAAACACTT	0.453000												
PPP3CA	5530	broad.mit.edu	37	4	102004362	102004362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:102004362G>A	uc011cen.1	-	7	1516	c.841C>T	c.(841-843)CAC>TAC	p.H281Y	PPP3CA_uc003hvu.2_Missense_Mutation_p.H281Y|PPP3CA_uc010ilj.2_Missense_Mutation_p.H281Y|PPP3CA_uc003hvt.2_Missense_Mutation_p.H268Y|PPP3CA_uc003hvs.2_Missense_Mutation_p.H214Y|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	281	Catalytic.	Zinc.			protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGGCTTCGTGGGCTCGGAGT	0.428000												
C4orf31	79625	broad.mit.edu	37	4	121957812	121957812	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:121957812C>G	uc003idq.1	-	4	1841	c.1314G>C	c.(1312-1314)AGG>AGC	p.R438S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	438											0						GCTTAGTAGGCCTTGTGGTAG	0.453000												
KLHL2	11275	broad.mit.edu	37	4	166218834	166218834	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:166218834A>T	uc003irb.2	+	7	987	c.728A>T	c.(727-729)GAA>GTA	p.E243V	KLHL2_uc011cjm.1_Missense_Mutation_p.E247V|KLHL2_uc003irc.2_Missense_Mutation_p.E155V|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	243					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CGACTGATGGAACATGTACGG	0.423000												
CCDC110	256309	broad.mit.edu	37	4	186380716	186380716	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr4:186380716T>G	uc003ixu.3	-	6	1101	c.1025A>C	c.(1024-1026)AAG>ACG	p.K342T	CCDC110_uc003ixv.3_Missense_Mutation_p.K305T|CCDC110_uc011ckt.1_Missense_Mutation_p.K342T	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	342						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTTAGATAACTTTTTACATTT	0.318000												
GDNF	2668	broad.mit.edu	37	5	37816105	37816105	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:37816105G>C	uc011cpi.1	-	3	484	c.284C>G	c.(283-285)GCT>GGT	p.A95G	GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Missense_Mutation_p.A43G|GDNF_uc011cpe.1_Missense_Mutation_p.A69G|GDNF_uc011cpf.1_Missense_Mutation_p.A69G|GDNF_uc011cpg.1_Missense_Mutation_p.A112G|GDNF_uc011cph.1_Missense_Mutation_p.A86G	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	95					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					GGCAGCTGCAGCCTGCCGATT	0.463000												
MRPS30	10884	broad.mit.edu	37	5	44809568	44809568	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:44809568G>A	uc003joh.2	+	1	542	c.504G>A	c.(502-504)GAG>GAA	p.E168E	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	168					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					GTTACGAGGAGAGCGAGGTCA	0.687000												
RASA1	5921	broad.mit.edu	37	5	86645051	86645051	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:86645051C>G	uc003kiw.2	+	8	1241	c.1123C>G	c.(1123-1125)CTT>GTT	p.L375V	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.L198V|RASA1_uc011ctv.1_Missense_Mutation_p.L208V|RASA1_uc011ctw.1_Missense_Mutation_p.L209V|RASA1_uc010jaw.2_Missense_Mutation_p.L197V	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	375	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCAGTTTTCTTGTGAGGCC	0.333000												
FAM81B	153643	broad.mit.edu	37	5	94728571	94728571	+	Silent	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:94728571T>G	uc003kla.1	+	2	244	c.198T>G	c.(196-198)CTT>CTG	p.L66L	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	66										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATGGCCCCCTTCCTGGCTCAG	0.403000												
PCDHB13	56123	broad.mit.edu	37	5	140594608	140594608	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:140594608A>C	uc003lja.1	+	1	1100	c.913A>C	c.(913-915)AAA>CAA	p.K305Q		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	305	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTGAACTAAAAAAACAACT	0.388000												
TBC1D9B	23061	broad.mit.edu	37	5	179290573	179290573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:179290573C>T	uc003mlh.2	-	22	3665	c.3628G>A	c.(3628-3630)GAG>AAG	p.E1210K	TBC1D9B_uc003mli.2_Missense_Mutation_p.E1193K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E1192K|TBC1D9B_uc003mlf.2_Missense_Mutation_p.E284K|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E369K|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E369K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1210						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACGGACTCCGTCAGGATG	0.592000												
RASGEF1C	255426	broad.mit.edu	37	5	179548126	179548126	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:179548126G>C	uc003mlq.2	-	6	1035	c.738C>G	c.(736-738)AGC>AGG	p.S246R	RASGEF1C_uc003mlr.2_Missense_Mutation_p.S246R|RASGEF1C_uc003mlp.3_Missense_Mutation_p.S95R	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	246	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCCAGGTTGCTGGTCTTGT	0.507000												
GCM2	9247	broad.mit.edu	37	6	10874576	10874576	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:10874576G>A	uc003mzn.3	-	5	1245	c.1173C>T	c.(1171-1173)TAC>TAT	p.Y391Y	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	391					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGTAGGCCTGGTAGGACACTT	0.532000												
C6orf26	401251	broad.mit.edu	37	6	31731858	31731858	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:31731858A>C	uc003nxa.3	+	3	332	c.273A>C	c.(271-273)TTA>TTC	p.L91F	MSH5_uc003nwz.3_RNA	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN	hypothetical protein LOC401251	91											0						TAACAGATTTACACTCAGAGC	0.463000												
LRFN2	57497	broad.mit.edu	37	6	40360102	40360102	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:40360102C>T	uc003oph.1	-	3	2415	c.1950G>A	c.(1948-1950)AAG>AAA	p.K650K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	650	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGGCTGGGCTTGGGGCGCG	0.706000												
PKHD1	5314	broad.mit.edu	37	6	51609229	51609229	+	Silent	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:51609229T>C	uc003pah.1	-	60	10386	c.10110A>G	c.(10108-10110)GTA>GTG	p.V3370V	PKHD1_uc010jzn.1_Silent_p.V1353V|PKHD1_uc003pai.2_Silent_p.V3370V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3370	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)					TTTTAGGAAATACAGAAACTG	0.468000												
TTK	7272	broad.mit.edu	37	6	80750377	80750377	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:80750377T>G	uc003pjc.2	+	21	2521	c.2447T>G	c.(2446-2448)CTT>CGT	p.L816R	TTK_uc003pjb.3_Missense_Mutation_p.L815R	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	816					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CTGGGCCAACTTGTTGGTCTG	0.308000												
GRIK2	2898	broad.mit.edu	37	6	102372513	102372513	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:102372513A>C	uc003pqp.3	+	12	2035	c.1786A>C	c.(1786-1788)AAC>CAC	p.N596H	GRIK2_uc003pqo.3_Missense_Mutation_p.N596H|GRIK2_uc010kcw.2_Missense_Mutation_p.N596H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	596	Cytoplasmic (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACACCCTTGCAACCCTGACTC	0.408000												
GPRC6A	222545	broad.mit.edu	37	6	117127751	117127751	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:117127751T>A	uc003pxj.1	-	3	1139	c.1117A>T	c.(1117-1119)AGT>TGT	p.S373C	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S373C	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	373	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGCATTGACTCAAATCAGTG	0.413000												
NMBR	4829	broad.mit.edu	37	6	142409567	142409567	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:142409567C>T	uc003qiu.2	-	1	370	c.229G>A	c.(229-231)GTC>ATC	p.V77I		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	77	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ATGTTGGGGACGCTCCTCATG	0.592000												
UTRN	7402	broad.mit.edu	37	6	145114972	145114972	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:145114972C>T	uc003qkt.2	+	62	9015	c.8923C>T	c.(8923-8925)CTC>TTC	p.L2975F		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2975	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTGCAGATCTCTTTAAGGA	0.438000												
ULBP1	80329	broad.mit.edu	37	6	150290350	150290350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:150290350C>T	uc003qnp.2	+	3	522	c.479C>T	c.(478-480)GCA>GTA	p.A160V		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	160	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		AAGTGGACAGCACTTCATCCT	0.483000												
FNDC1	84624	broad.mit.edu	37	6	159692384	159692384	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr6:159692384G>T	uc010kjv.2	+	23	5795	c.5595G>T	c.(5593-5595)GAG>GAT	p.E1865D		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1865						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCGTCAGGAGCCTGTCAGGT	0.557000												
ITGB8	3696	broad.mit.edu	37	7	20438596	20438596	+	Silent	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:20438596A>G	uc003suu.2	+	9	1965	c.1260A>G	c.(1258-1260)AGA>AGG	p.R420R	ITGB8_uc011jyh.1_Silent_p.R285R|ITGB8_uc003sut.2_Silent_p.R420R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	420	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						AAGGATGCAGAAACGTGACGA	0.413000												
ELMO1	9844	broad.mit.edu	37	7	37172752	37172752	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:37172752G>T	uc003tfk.1	-	14	1481	c.1174C>A	c.(1174-1176)CAA>AAA	p.Q392K	ELMO1_uc011kbc.1_Missense_Mutation_p.Q296K|ELMO1_uc010kxg.1_Missense_Mutation_p.Q392K	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	392	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TAGGCATCTTGGTGGTGCTTG	0.458000												
RSBN1L	222194	broad.mit.edu	37	7	77326150	77326150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:77326150C>T	uc010ldt.1	+	1	408	c.364C>T	c.(364-366)CAG>TAG	p.Q122*	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	122						nucleus				ovary(1)	1						TTCCTTGTCTCAGCCGGTGCC	0.677000												
SLC25A13	10165	broad.mit.edu	37	7	95813719	95813719	+	Silent	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:95813719G>A	uc003uof.3	-	11	1238	c.1047C>T	c.(1045-1047)ATC>ATT	p.I349I	SLC25A13_uc003uog.3_Silent_p.I350I|SLC25A13_uc011kik.1_Silent_p.I241I	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	349	Solcar 1.|Helical; Name=1; (Potential).				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTACAAGATCGATAGGATACA	0.363000												
MET	4233	broad.mit.edu	37	7	116339156	116339156	+	Silent	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:116339156G>T	uc003vij.2	+	2	205	c.18G>T	c.(16-18)GTG>GTT	p.V6V	MET_uc010lkh.2_Silent_p.V6V|MET_uc011knc.1_Silent_p.V6V|MET_uc011knd.1_Silent_p.V6V|MET_uc011kne.1_Silent_p.V6V|MET_uc011knf.1_Silent_p.V6V|MET_uc011kng.1_Silent_p.V6V|MET_uc011knh.1_Silent_p.V6V|MET_uc011kni.1_Silent_p.V6V|MET_uc003vii.1_Silent_p.V25V|MET_uc010lkg.2_Silent_p.V6V|MET_uc011kmz.1_Silent_p.V6V|MET_uc011kna.1_Silent_p.V6V|MET_uc011knb.1_Silent_p.V6V	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	6					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCCCGCTGTGCTTGCACCTG	0.473000			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
TMEM209	84928	broad.mit.edu	37	7	129841736	129841736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:129841736G>A	uc003vpn.2	-	5	650	c.527C>T	c.(526-528)TCT>TTT	p.S176F	TMEM209_uc010lmc.1_Missense_Mutation_p.S176F|TMEM209_uc003vpo.2_Missense_Mutation_p.S176F	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	176	Ser-rich.					integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)					AGGGCTATAAGAACCACTGCC	0.488000												
PLXNA4	91584	broad.mit.edu	37	7	132192789	132192789	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:132192789A>C	uc003vra.3	-	2	893	c.664T>G	c.(664-666)TTC>GTC	p.F222V	PLXNA4_uc003vrc.2_Missense_Mutation_p.F222V|PLXNA4_uc003vrb.2_Missense_Mutation_p.F222V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	222	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GAGGCCACGAACTCATCATGG	0.488000												
NOBOX	135935	broad.mit.edu	37	7	144098486	144098486	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr7:144098486G>T	uc011kue.1	-	4	497	c.497C>A	c.(496-498)GCT>GAT	p.A166D		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	166					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					TTTGTGGGGAGCCCTGGAGCG	0.622000												
CSMD1	64478	broad.mit.edu	37	8	2807833	2807833	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:2807833G>T	uc011kwk.1	-	67	10627	c.10237C>A	c.(10237-10239)CTG>ATG	p.L3413M	CSMD1_uc011kwj.1_Missense_Mutation_p.L2727M|CSMD1_uc010lrg.2_Missense_Mutation_p.L1304M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3413	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGCTTTCAGGAGTAAGTGG	0.398000												
NEFL	4747	broad.mit.edu	37	8	24813352	24813352	+	Silent	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:24813352C>G	uc003xee.2	-	1	780	c.678G>C	c.(676-678)GTG>GTC	p.V226V		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	226	Rod.|Coil 1B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCTCTTCGTGCACTTTCTTCA	0.617000												
BRF2	55290	broad.mit.edu	37	8	37704431	37704431	+	Silent	SNP	G	G	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:37704431G>T	uc003xkk.2	-	3	587	c.477C>A	c.(475-477)CTC>CTA	p.L159L		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	159					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCAGTCCCAGGAGCTTCACTA	0.532000												
SLCO5A1	81796	broad.mit.edu	37	8	70674086	70674086	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:70674086A>C	uc003xyl.2	-	3	1639	c.932T>G	c.(931-933)CTT>CGT	p.L311R	SLCO5A1_uc010lzb.2_Missense_Mutation_p.L311R|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.L311R|SLCO5A1_uc010lzc.2_Missense_Mutation_p.L311R	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	311	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCAGGGCCAAGTGCTCCCAT	0.418000												
MMP16	4325	broad.mit.edu	37	8	89058908	89058908	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:89058908T>G	uc003yeb.3	-	9	1760	c.1478A>C	c.(1477-1479)CAC>CCC	p.H493P		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	493	Hemopexin-like 4.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						ATTTTCTTTGTGTACAAATGC	0.393000												
DCAF13	25879	broad.mit.edu	37	8	104427493	104427493	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:104427493C>G	uc003yln.2	+	1	552	c.275C>G	c.(274-276)GCT>GGT	p.A92G	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CCGCCCCTTGCTAACGTTTGC	0.642000												
CSMD3	114788	broad.mit.edu	37	8	113650972	113650972	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:113650972A>C	uc003ynu.2	-	21	3638	c.3479T>G	c.(3478-3480)ATT>AGT	p.I1160S	CSMD3_uc003yns.2_Missense_Mutation_p.I432S|CSMD3_uc003ynt.2_Missense_Mutation_p.I1120S|CSMD3_uc011lhx.1_Missense_Mutation_p.I1056S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1160	Extracellular (Potential).|CUB 6.					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						AAAATCTGAAATGAAACGCAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
COL14A1	7373	broad.mit.edu	37	8	121216104	121216104	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:121216104T>G	uc003yox.2	+	9	1299	c.1034T>G	c.(1033-1035)ATT>AGT	p.I345S	COL14A1_uc003yoy.2_Missense_Mutation_p.I23S|COL14A1_uc010mde.1_Missense_Mutation_p.I23S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	345					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACAGAGAAATTAAAGGTAAA	0.423000												
KLHL38	340359	broad.mit.edu	37	8	124664818	124664818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:124664818G>A	uc003yqs.1	-	1	373	c.349C>T	c.(349-351)CCC>TCC	p.P117S		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	117											0						AACAGCTTGGGGAACTGTAGC	0.562000												
MFSD3	113655	broad.mit.edu	37	8	145736098	145736098	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr8:145736098C>G	uc003zdi.1	+	3	1113	c.948C>G	c.(946-948)ATC>ATG	p.I316M		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	316	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCACAATCTTGAGAGGTG	0.652000												
TMEFF1	8577	broad.mit.edu	37	9	103278979	103278979	+	Silent	SNP	A	A	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr9:103278979A>G	uc004baz.1	+	5	596	c.486A>G	c.(484-486)GAA>GAG	p.E162E	TMEFF1_uc004bay.1_Silent_p.E236E	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	162	Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				CAGGGGCAGAAGTTCACAGAA	0.413000												
ADAMTS13	11093	broad.mit.edu	37	9	136319694	136319694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr9:136319694C>T	uc004cdv.3	+	24	3646	c.3202C>T	c.(3202-3204)CTC>TTC	p.L1068F	ADAMTS13_uc004cdp.3_Missense_Mutation_p.L295F|ADAMTS13_uc004cdt.1_Missense_Mutation_p.L1068F|ADAMTS13_uc004cdu.1_Missense_Mutation_p.L1037F|ADAMTS13_uc004cdw.3_Missense_Mutation_p.L1068F|ADAMTS13_uc004cdx.3_Missense_Mutation_p.L1037F|ADAMTS13_uc004cdz.3_Missense_Mutation_p.L738F|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1068	TSP type-1 7.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGTCCCCTGTCTCATTGCCGA	0.677000												
KCNT1	57582	broad.mit.edu	37	9	138671281	138671281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr9:138671281G>A	uc011mdq.1	+	24	2880	c.2806G>A	c.(2806-2808)GAC>AAC	p.D936N	KCNT1_uc011mdr.1_Missense_Mutation_p.D763N|KCNT1_uc010nbf.2_Missense_Mutation_p.D891N|KCNT1_uc004cgo.1_Missense_Mutation_p.D685N	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	936						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGCGCCAAGGACAGCTACTC	0.617000												
DMD	1756	broad.mit.edu	37	X	32867866	32867866	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:32867866T>A	uc004dda.1	-	3	409	c.165A>T	c.(163-165)GAA>GAT	p.E55D	DMD_uc004dcz.2_Translation_Start_Site|DMD_uc004dcy.1_Missense_Mutation_p.E51D|DMD_uc004ddb.1_Missense_Mutation_p.E47D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E47D|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	55	CH 1.|Actin-binding.		Missing (in BMD).		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)				CTGTCAGGCCTTCGAGGAGGT	0.378000												
ACRC	93953	broad.mit.edu	37	X	70823607	70823607	+	Silent	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:70823607C>T	uc004eae.2	+	8	981	c.480C>T	c.(478-480)GAC>GAT	p.D160D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	160	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					AAGCTCCTGACGACAACAGTG	0.493000												
ZCCHC5	203430	broad.mit.edu	37	X	77913793	77913793	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:77913793T>G	uc004edc.1	-	2	421	c.125A>C	c.(124-126)AAG>ACG	p.K42T		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	42							nucleic acid binding|zinc ion binding			ovary(1)	1						TGCTTGGGACTTCTGAAGCTC	0.527000												
TBC1D8B	54885	broad.mit.edu	37	X	106110048	106110048	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:106110048T>C	uc004emo.2	+	17	2849	c.2684T>C	c.(2683-2685)TTT>TCT	p.F895S	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	895						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AATGGAAGTTTTACTGAGAAG	0.299000												
TRPC5	7224	broad.mit.edu	37	X	111155847	111155847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chrX:111155847C>T	uc004epl.1	-	3	1491	c.572G>A	c.(571-573)CGC>CAC	p.R191H	TRPC5_uc004epm.1_Missense_Mutation_p.R191H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	191	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCGAGAGTGGCGCAGGCTGTC	0.547000												
WWC1	23286	broad.mit.edu	37	5	167835508	167835512	+	Splice_Site	DEL	TCAGA	TCAGA	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:167835507_167835511TTCAGA>T	uc003lzu.3	+	7	814	c.721_splice	c.e7-1	p.S241_splice	WWC1_uc003lzv.3_Splice_Site_p.S241_splice|WWC1_uc011den.2_Splice_Site_p.S241_splice|WWC1_uc003lzw.3_Splice_Site_p.S40_splice	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	241					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTCCCCTCCTTCAGAGCCTTGCCA	0.590												
MCM10	55388	broad.mit.edu	37	10	13225083	13225102	+	Splice_Site	DEL	AAGGATGGTTCAGAGGAGGT	AAGGATGGTTCAGAGGAGGT	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:13225082_13225101CAAGGATGGTTCAGAGGAGGT>C	uc001ima.3	+	8	1229	c.1101_splice	c.e8+1	p.E367_splice	MCM10_uc001imb.3_Splice_Site_p.E366_splice|MCM10_uc001imc.3_Splice_Site_p.E366_splice	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	367					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCATGAAGCCCAAGGATGGTTCAGAGGAGGTAAGAGCCTG	0.455												
CFHR2	3080	broad.mit.edu	37	1	196927133	196927146	+	Frame_Shift_Del	DEL	GTATCAACTTGAGG	GTATCAACTTGAGG	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr1:196927132_196927145TGTATCAACTTGAGG>T	uc001gtq.1	+	3	619_632	c.542_555TGTATCAACTTGAGG>T	c.(541-555)ttgtatcaacttgagfs	p.L181fs	CFHR2_uc001gtr.1_Frame_Shift_Del_p.L57fs	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	181	Sushi 3.					extracellular region		p.Q183K(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGCCAGAACTTGTATCAACTTGAGGGTAACAATC	0.402												
KYNU	8942	broad.mit.edu	37	2	143798030	143798031	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr2:143798029_143798030G>GA	uc010fnm.3	+	13	1290_1291	c.1074_1075G>GA	c.(1072-1077)cggaaafs	p.R358fs	KYNU_uc002tvl.3_Frame_Shift_Ins_p.R358fs	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	358					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.R358W(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGGCATTGCGGAAAAAATCTGT	0.347												
ALDH1L1	10840	broad.mit.edu	37	3	125850299	125850312	+	Frame_Shift_Del	DEL	CAGCGTGTAGACGG	CAGCGTGTAGACGG	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr3:125850298_125850311CCAGCGTGTAGACGG>C	uc003eim.1	-	12	1729_1742	c.1539_1552CCGTCTACACGCTGG>G	c.(1537-1554)gccgtctacacgctggccfs	p.A513fs	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Frame_Shift_Del_p.A412fs|ALDH1L1_uc003eio.3_Frame_Shift_Del_p.A215fs	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	513	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTCTTCAGGGCCAGCGTGTAGACGGCACCCGCAT	0.640												
WWC1	23286	broad.mit.edu	37	5	167835508	167835512	+	Splice_Site	DEL	TCAGA	TCAGA	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr5:167835507_167835511TTCAGA>T	uc003lzu.3	+	7	814	c.721_splice	c.e7-1	p.S241_splice	WWC1_uc003lzv.3_Splice_Site_p.S241_splice|WWC1_uc011den.2_Splice_Site_p.S241_splice|WWC1_uc003lzw.3_Splice_Site_p.S40_splice	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	241					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTCCCCTCCTTCAGAGCCTTGCCA	0.590												
MCM10	55388	broad.mit.edu	37	10	13225083	13225102	+	Splice_Site	DEL	AAGGATGGTTCAGAGGAGGT	AAGGATGGTTCAGAGGAGGT	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr10:13225082_13225101CAAGGATGGTTCAGAGGAGGT>C	uc001ima.3	+	8	1229	c.1101_splice	c.e8+1	p.E367_splice	MCM10_uc001imb.3_Splice_Site_p.E366_splice|MCM10_uc001imc.3_Splice_Site_p.E366_splice	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	367					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCATGAAGCCCAAGGATGGTTCAGAGGAGGTAAGAGCCTG	0.455												
SYNE2	23224	broad.mit.edu	37	14	64486739	64486740	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr14:64486738_64486739CTT>C	uc001xgl.3	+	34	5308_5309	c.5078_5079CTT>C	c.(5077-5079)actfs	p.T1693fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.T1693fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.T1693fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1693					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACAAAAAACTTCAGAATTTT	0.292												
C15orf27	123591	broad.mit.edu	37	15	76494574	76494600	+	In_Frame_Del	DEL	CATCAGTCAGTATTACAATGGGCCCAG	CATCAGTCAGTATTACAATGGGCCCAG	-			TCGA-BR-7958-01A-21D-2340-08	TCGA-BR-7958-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8458b60-539c-4108-a0ca-142592ed3a0a	d3d47851-0b03-4653-a7c0-79a26d9aae84	g.chr15:76494573_76494599ACATCAGTCAGTATTACAATGGGCCCAG>A	uc002bbq.3	+	9	1144_1170	c.989_1015ACATCAGTCAGTATTACAATGGGCCCAG>A	c.(988-1017)tacatcagtcagtattacaatgggcccagc>tAgc	p.330_339YISQYYNGPS>*	C15orf27_uc010bkp.3_In_Frame_Del_p.146_155YISQYYNGPS>*|C15orf27_uc002bbr.3_In_Frame_Del_p.146_155YISQYYNGPS>*|C15orf27_uc002bbs.3_In_Frame_Del_p.8_17YISQYYNGPS>*	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	330						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ATGAACAGCTACATCAGTCAGTATTACAATGGGCCCAGCAGTGGTAA	0.520