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
MTOR	2475	broad.mit.edu	37	1	11204807	11204807	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:11204807C>G	uc001asd.2	-	34	4891	c.4770G>C	c.(4768-4770)ATG>ATC	p.M1590I		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1590	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GGCAAGAAACCATGGCCTGAT	0.478												
CLIC4	25932	broad.mit.edu	37	1	25153587	25153587	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:25153587C>G	uc001bjo.2	+	4	680	c.395C>G	c.(394-396)TCA>TGA	p.S132*	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Nonsense_Mutation_p.S112*	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	132	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		ATCAAGAATTCAAGGCCAGAG	0.338												
ZMYM6	9204	broad.mit.edu	37	1	35452793	35452793	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:35452793T>C	uc001byh.2	-	16	4118	c.3890A>G	c.(3889-3891)AAA>AGA	p.K1297R	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.K1200R	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1297					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAACAGATTTTTTTGTTTTGA	0.373												
GJA9	81025	broad.mit.edu	37	1	39341225	39341225	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:39341225G>C	uc001cct.1	-	2	827	c.546C>G	c.(544-546)CAC>CAG	p.H182Q	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	182	Helical; (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GCGGCTCTAAGTGAAATCCAT	0.393												
TNNI3K	51086	broad.mit.edu	37	1	74664041	74664041	+	Silent	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:74664041A>C	uc001dge.1	+	1	95	c.79A>C	c.(79-81)AGA>CGA	p.R27R	LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Silent_p.R27R|TNNI3K_uc001dgd.2_Silent_p.R27R|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Silent_p.R27R|FPGT_uc001dgb.1_Silent_p.R27R|FPGT_uc010oqv.1_Silent_p.R27R	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	Error:Variant_position_missing_in_Q59H18_after_alignment						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCGAGCTAAGAGGTACCAG	0.577												
ZNHIT6	54680	broad.mit.edu	37	1	86123656	86123656	+	Splice_Site	SNP	T	T	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:86123656T>G	uc001dlh.2	-	9	1382	c.1248_splice	c.e9-1	p.R416_splice	ZNHIT6_uc010osc.1_Splice_Site_p.R377_splice	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6						box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						TCATAATATCTTATTAATAAA	0.244												
CA14	23632	broad.mit.edu	37	1	150234696	150234696	+	Silent	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:150234696A>C	uc001etx.2	+	4	705	c.396A>C	c.(394-396)GCA>GCC	p.A132A		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	132	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACATTTGCAGAGGTACCAG	0.542												
CLK2	1196	broad.mit.edu	37	1	155235680	155235680	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:155235680C>G	uc001fjy.2	-	8	1194	c.904G>C	c.(904-906)GAC>CAC	p.D302H	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.D301H|CLK2_uc001fjx.2_Missense_Mutation_p.D74H|CLK2_uc009wqm.2_Missense_Mutation_p.D302H	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	302	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTCATAGTCTGAATTCACA	0.517								Other_conserved_DNA_damage_response_genes				
KIRREL	55243	broad.mit.edu	37	1	158064804	158064804	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:158064804C>T	uc001frn.3	+	15	2572	c.2168C>T	c.(2167-2169)GCG>GTG	p.A723V	KIRREL_uc010pib.1_Missense_Mutation_p.A623V|KIRREL_uc009wsq.2_Missense_Mutation_p.A559V|KIRREL_uc001fro.3_Missense_Mutation_p.A537V|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	723	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCATATGAGGCGTATGACCCC	0.632												
CD1C	911	broad.mit.edu	37	1	158261887	158261887	+	Silent	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:158261887A>G	uc001fru.2	+	3	634	c.342A>G	c.(340-342)GTA>GTG	p.V114V	CD1C_uc001frv.2_5'UTR	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	114	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CCTTTGAAGTACAGGTGAAAG	0.418												
DARC	2532	broad.mit.edu	37	1	159176045	159176045	+	Silent	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:159176045G>T	uc001fto.2	+	2	1056	c.816G>T	c.(814-816)CTG>CTT	p.L272L	DARC_uc001ftp.3_Silent_p.L274L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	272	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					AGCTGTTGCTGTTGTCAACAT	0.577												
RNPEP	6051	broad.mit.edu	37	1	201965357	201965357	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:201965357G>A	uc001gxd.2	+	4	849	c.820G>A	c.(820-822)GGA>AGA	p.G274R	RNPEP_uc001gxe.2_5'UTR|RNPEP_uc001gxf.2_Missense_Mutation_p.G143R	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase	274					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			upper_aerodigestive_tract(1)	1				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTTGGCAACAGGAGAGAAGCT	0.488												
NLRP3	114548	broad.mit.edu	37	1	247587525	247587525	+	Silent	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr1:247587525C>T	uc001icr.2	+	5	918	c.780C>T	c.(778-780)CAC>CAT	p.H260H	NLRP3_uc001ics.2_Silent_p.H260H|NLRP3_uc001icu.2_Silent_p.H260H|NLRP3_uc001icw.2_Silent_p.H260H|NLRP3_uc001icv.2_Silent_p.H260H|NLRP3_uc010pyw.1_Silent_p.H258H|NLRP3_uc001ict.1_Silent_p.H258H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	260	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTATATCCACTGTCGAGAGG	0.547												
ZNF33A	7581	broad.mit.edu	37	10	38305806	38305806	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr10:38305806A>G	uc001izh.2	+	3	195	c.17A>G	c.(16-18)CAG>CGG	p.Q6R	ZNF33A_uc001izg.2_Missense_Mutation_p.Q6R|ZNF33A_uc010qev.1_Missense_Mutation_p.Q13R|ZNF33A_uc001izi.1_Missense_Mutation_p.Q6R|ZNF33A_uc001izj.2_RNA	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CAGGTAGAACAGAAGTCCCAG	0.413												
IFIT1B	439996	broad.mit.edu	37	10	91143104	91143104	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr10:91143104G>C	uc001kgh.2	+	2	114	c.34G>C	c.(34-36)GAC>CAC	p.D12H	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	12							binding				0						GCTTATTGAAGACAGCCTGAT	0.373												
B4GALNT4	338707	broad.mit.edu	37	11	379952	379952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:379952G>A	uc001lpb.2	+	16	2584	c.2575G>A	c.(2575-2577)GTC>ATC	p.V859I		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	859	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTTCAGCGTCGTCCTGGTGGA	0.667												
CDHR5	53841	broad.mit.edu	37	11	618098	618098	+	Silent	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:618098C>T	uc001lqj.2	-	14	2079	c.1974G>A	c.(1972-1974)TCG>TCA	p.S658S	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.S464S|CDHR5_uc009ycc.2_Silent_p.S492S|CDHR5_uc009ycd.2_Silent_p.S652S|CDHR5_uc001lql.2_Silent_p.S658S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	658	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCTTGTCCTCCGAGGGGCCGC	0.652												
TRIM22	10346	broad.mit.edu	37	11	5730579	5730579	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:5730579A>T	uc001mbr.2	+	8	1475	c.1198A>T	c.(1198-1200)AGA>TGA	p.R400*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Nonsense_Mutation_p.R396*|TRIM22_uc010qzm.1_Nonsense_Mutation_p.R228*|TRIM22_uc009yeu.2_Nonsense_Mutation_p.R211*|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	400	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTTTACTCCAGATATAGACC	0.383												
ZNF408	79797	broad.mit.edu	37	11	46726634	46726634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:46726634C>T	uc001nde.1	+	5	1614	c.1384C>T	c.(1384-1386)CCA>TCA	p.P462S	ZNF408_uc010rgw.1_Missense_Mutation_p.P454S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						CCACCAGGTGCCAGCTGCCCC	0.662												
NR1H3	10062	broad.mit.edu	37	11	47282926	47282926	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:47282926G>T	uc009ylm.2	+	5	855	c.634G>T	c.(634-636)GGC>TGC	p.G212C	NR1H3_uc009yll.1_Missense_Mutation_p.G218C|NR1H3_uc010rhk.1_Missense_Mutation_p.G218C|NR1H3_uc001nek.2_Missense_Mutation_p.G167C|NR1H3_uc001nej.2_Missense_Mutation_p.G212C|NR1H3_uc001nel.2_Missense_Mutation_p.G167C|NR1H3_uc001nen.3_Missense_Mutation_p.G212C|NR1H3_uc001nem.2_Missense_Mutation_p.G212C|NR1H3_uc001nep.2_Missense_Mutation_p.G121C	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	212					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						GGAACAACTGGGCATGATCGA	0.617												
OR5F1	338674	broad.mit.edu	37	11	55761793	55761793	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:55761793G>T	uc010riv.1	-	1	309	c.309C>A	c.(307-309)TTC>TTA	p.F103L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GGGAGATAAAGAAGTACATCT	0.458												
SYT7	9066	broad.mit.edu	37	11	61300595	61300595	+	Silent	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr11:61300595A>G	uc001nrv.2	-	4	223	c.217T>C	c.(217-219)TTG>CTG	p.L73L	SYT7_uc009ynr.2_Silent_p.L148L	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	73	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						CCTGCAGGCAACCTGAGGGCA	0.662												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
MLL2	8085	broad.mit.edu	37	12	49424548	49424548	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:49424548G>C	uc001rta.3	-	41	13675	c.13675C>G	c.(13675-13677)CTG>GTG	p.L4559V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4559					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCAGGGACAGCTCCTACAAG	0.587			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KIAA0748	9840	broad.mit.edu	37	12	55356379	55356379	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:55356379T>A	uc001sgn.3	-	9	1413	c.1303A>T	c.(1303-1305)AAG>TAG	p.K435*	KIAA0748_uc001sgl.3_Nonsense_Mutation_p.K297*|KIAA0748_uc001sgm.3_Nonsense_Mutation_p.K182*|KIAA0748_uc010spb.1_Nonsense_Mutation_p.K182*|KIAA0748_uc010spc.1_Nonsense_Mutation_p.K297*|KIAA0748_uc010spd.1_Nonsense_Mutation_p.K435*|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	435										ovary(1)|central_nervous_system(1)	2						GCTCTGCTCTTTCTTTTCCAG	0.502												
BTBD11	121551	broad.mit.edu	37	12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:108045467A>C	uc001tmk.1	+	16	3529	c.3008A>C	c.(3007-3009)AAG>ACG	p.K1003T	BTBD11_uc001tml.1_Missense_Mutation_p.K540T|BTBD11_uc001tmm.1_Missense_Mutation_p.K82T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1003						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TCTGCTGCTAAGTTTTTCCAG	0.438												
NOS1	4842	broad.mit.edu	37	12	117657958	117657958	+	Silent	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:117657958G>C	uc001twm.1	-	27	4778	c.4092C>G	c.(4090-4092)CTC>CTG	p.L1364L		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1364					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGATGGCTTTGAGGACATCAG	0.612												
RNF10	9921	broad.mit.edu	37	12	121013630	121013630	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:121013630A>G	uc001typ.3	+	16	2719	c.2236A>G	c.(2236-2238)AGC>GGC	p.S746G	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.S657G	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	746					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTGTGGACAGCGACGGGGA	0.428												
OGFOD2	79676	broad.mit.edu	37	12	123463763	123463763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:123463763G>A	uc001uea.1	+	7	944	c.923G>A	c.(922-924)CGA>CAA	p.R308Q	OGFOD2_uc001uds.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udt.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udu.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udv.1_Missense_Mutation_p.R144Q|OGFOD2_uc009zxs.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udw.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udx.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udy.1_Missense_Mutation_p.R144Q|OGFOD2_uc001udz.1_Missense_Mutation_p.R248Q|OGFOD2_uc001ueb.1_Missense_Mutation_p.R144Q|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase	308	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GTCTGGCTCCGAGCCTCTGCT	0.672												
KPNA3	3839	broad.mit.edu	37	13	50283717	50283717	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr13:50283717C>G	uc001vdj.2	-	12	1438	c.1023G>C	c.(1021-1023)AAG>AAC	p.K341N		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	341	NLS binding site (minor) (By similarity).|ARM 7.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CCTTATTTATCTTCTCTTTTG	0.388												
DCT	1638	broad.mit.edu	37	13	95118904	95118904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr13:95118904G>A	uc001vlv.3	-	3	1031	c.604C>T	c.(604-606)CGC>TGC	p.R202C	DCT_uc010afh.2_Missense_Mutation_p.R202C	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	202	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTGTAGGGGCGTCCTGGTCCT	0.418												
HS6ST3	266722	broad.mit.edu	37	13	96743492	96743492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr13:96743492C>T	uc001vmw.2	+	1	400	c.376C>T	c.(376-378)CGC>TGC	p.R126C		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	126	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ATTCGTGCCGCGCTTCAACTT	0.552												
TRIM9	114088	broad.mit.edu	37	14	51448802	51448802	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr14:51448802G>C	uc001wyx.3	-	8	2388	c.1623C>G	c.(1621-1623)GAC>GAG	p.D541E	TRIM9_uc001wyy.2_Missense_Mutation_p.D622E	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	541	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGAGCCAGGGTCGAAAGCAA	0.537												
C14orf73	91828	broad.mit.edu	37	14	103566569	103566569	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr14:103566569C>G	uc001ymk.2	+	1	89	c.13C>G	c.(13-15)CAG>GAG	p.Q5E		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	5											0		Melanoma(154;0.155)	Epithelial(46;0.221)			GCCATCACCACAGACAGACAC	0.627												
RYR3	6263	broad.mit.edu	37	15	33878223	33878223	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr15:33878223T>A	uc001zhi.2	+	16	1764	c.1694T>A	c.(1693-1695)ATC>AAC	p.I565N	RYR3_uc010bar.2_Missense_Mutation_p.I565N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	565	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCACTGCATCTTAACTGAA	0.443												
IDH3A	3419	broad.mit.edu	37	15	78454614	78454614	+	Silent	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr15:78454614C>T	uc002bdd.2	+	6	543	c.516C>T	c.(514-516)ACC>ACT	p.T172T	IDH3A_uc010umt.1_Silent_p.T137T|IDH3A_uc010umu.1_Silent_p.T63T|IDH3A_uc002bde.2_Silent_p.T122T|IDH3A_uc010umv.1_Silent_p.T122T|IDH3A_uc002bdf.2_Silent_p.T23T|IDH3A_uc002bdg.2_Silent_p.T85T	NM_005530	NP_005521	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	172					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	AGCTCATCACCGAGGGGGCGA	0.547												
ADCY9	115	broad.mit.edu	37	16	4164838	4164838	+	Silent	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:4164838G>A	uc002cvx.2	-	2	1145	c.606C>T	c.(604-606)GGC>GGT	p.G202G		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	202	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TGGAGCTGTCGCCGCGTCCTG	0.597												
RRN3	54700	broad.mit.edu	37	16	15155664	15155664	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:15155664G>T	uc002dde.2	-	18	1961	c.1893C>A	c.(1891-1893)TTC>TTA	p.F631L	PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.F499L|RRN3_uc010uzq.1_Missense_Mutation_p.F601L	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor	631	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1						AAGGACTTCGGAAATGCGTGT	0.493												
ACSM3	6296	broad.mit.edu	37	16	20796353	20796353	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:20796353T>C	uc002dhr.2	+	8	1254	c.1067T>C	c.(1066-1068)ATT>ACT	p.I356T	ACSM3_uc002dhq.2_Missense_Mutation_p.I356T|ACSM3_uc010vba.1_Missense_Mutation_p.I385T|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	356					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						GGGGAACCAATTACCCCTGAC	0.423												
DNAH3	55567	broad.mit.edu	37	16	20975848	20975848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:20975848G>A	uc010vbe.1	-	53	9358	c.9358C>T	c.(9358-9360)CAG>TAG	p.Q3120*	DNAH3_uc010vbd.1_Nonsense_Mutation_p.Q555*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3120	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GTGCCTAACTGCAGCGCGTTT	0.448												
BRD7	29117	broad.mit.edu	37	16	50354623	50354623	+	Silent	SNP	C	C	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:50354623C>A	uc002egf.1	-	15	1630	c.1563G>T	c.(1561-1563)CTG>CTT	p.L521L	BRD7_uc002ege.1_Silent_p.L522L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	521					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TTACTGCTTTCAGCGCTATGA	0.453												
CES7	221223	broad.mit.edu	37	16	55899941	55899941	+	Silent	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:55899941G>A	uc002eip.2	-	5	788	c.639C>T	c.(637-639)TTC>TTT	p.F213F	CES7_uc002eio.2_Silent_p.F213F|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.F107F	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	213						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GGTCCCCACCGAAGAACTCGA	0.547												
HYDIN	54768	broad.mit.edu	37	16	70934955	70934955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:70934955G>T	uc002ezr.2	-	53	9125	c.8997C>A	c.(8995-8997)TAC>TAA	p.Y2999*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3000										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGGGCTGAAAGTACAGGTGCA	0.517												
ZNF19	7567	broad.mit.edu	37	16	71512174	71512174	+	Silent	SNP	T	T	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:71512174T>A	uc010cgc.1	-	5	737	c.231A>T	c.(229-231)GCA>GCT	p.A77A	ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Silent_p.A65A|ZNF19_uc002fal.1_Silent_p.A65A|ZNF19_uc002fam.1_Silent_p.A77A	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	77	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GATCATCCTGTGCTTCCAGGC	0.468												
KCNG4	93107	broad.mit.edu	37	16	84270603	84270603	+	Silent	SNP	C	C	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr16:84270603C>A	uc010voc.1	-	2	610	c.489G>T	c.(487-489)CGG>CGT	p.R163R	KCNG4_uc002fhu.1_Silent_p.R163R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	163						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TCAGCAGCTTCCGCAGGCAGC	0.667												
ITGB3	3690	broad.mit.edu	37	17	45362061	45362061	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr17:45362061A>C	uc002ilj.2	+	4	634	c.614A>C	c.(613-615)GAT>GCT	p.D205A	ITGB3_uc002ili.1_Missense_Mutation_p.D205A|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	205	VWFA.|Extracellular (Potential).			D -> EY (in Ref. 11; AAA67537).	activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CCCTGCTATGAGTAAGTCCCT	0.532												
MIB1	57534	broad.mit.edu	37	18	19418419	19418419	+	Silent	SNP	T	T	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr18:19418419T>G	uc002ktq.2	+	13	1923	c.1923T>G	c.(1921-1923)CTT>CTG	p.L641L	MIB1_uc002ktp.2_Silent_p.L280L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	641	ANK 7.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			TGGCTGCCCTTAATAATCACG	0.353												
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr18:48591919G>C	uc010xdp.1	+	9	1620	c.1082G>C	c.(1081-1083)CGC>CCC	p.R361P	SMAD4_uc002lfb.3_Missense_Mutation_p.R206P	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		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.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		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)		GGAGGAGATCGCTTTTGTTTG	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
PCSK4	54760	broad.mit.edu	37	19	1481839	1481839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:1481839C>T	uc002ltb.1	-	15	2249	c.2187G>A	c.(2185-2187)ATG>ATA	p.M729I	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc002lsy.3_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|C19orf25_uc002lsx.1_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.M216I|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	729	Helical; (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAGGTCCATGGACATGC	0.677												
CREB3L3	84699	broad.mit.edu	37	19	4159760	4159760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:4159760C>T	uc002lzl.2	+	4	673	c.557C>T	c.(556-558)TCG>TTG	p.S186L	CREB3L3_uc002lzm.2_Missense_Mutation_p.S176L|CREB3L3_uc010xib.1_Missense_Mutation_p.S177L|CREB3L3_uc010xic.1_Missense_Mutation_p.S177L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	186	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCCTTTCGGGCAGCAGT	0.433												
UNC13A	23025	broad.mit.edu	37	19	17738735	17738735	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:17738735C>T	uc002nhd.2	-	32	4032	c.4032G>A	c.(4030-4032)ATG>ATA	p.M1344I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1256					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GAGTGTTATTCATGAGAATGC	0.597												
ZNF607	84775	broad.mit.edu	37	19	38190035	38190035	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:38190035C>G	uc002ohc.1	-	5	1593	c.997G>C	c.(997-999)GGG>CGG	p.G333R	ZNF607_uc002ohb.1_Missense_Mutation_p.G332R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTTTCTCCCCTGAATAAATT	0.378												
RYR1	6261	broad.mit.edu	37	19	38968395	38968395	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:38968395G>A	uc002oit.2	+	30	4469	c.4339G>A	c.(4339-4341)GTG>ATG	p.V1447M	RYR1_uc002oiu.2_Missense_Mutation_p.V1447M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1447	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCAGCTGCGTGTGGGCGGG	0.597												
SPTBN4	57731	broad.mit.edu	37	19	41003482	41003482	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:41003482T>A	uc002ony.2	+	7	841	c.755T>A	c.(754-756)CTG>CAG	p.L252Q	SPTBN4_uc002onx.2_Missense_Mutation_p.L252Q|SPTBN4_uc002onz.2_Missense_Mutation_p.L252Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	252	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCAGCACCTGGGGCTGGCG	0.622												
ATP5SL	55101	broad.mit.edu	37	19	41938220	41938220	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:41938220C>G	uc002oqw.1	-	6	696	c.690G>C	c.(688-690)GAG>GAC	p.E230D	CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Missense_Mutation_p.E236D|ATP5SL_uc010xwa.1_Missense_Mutation_p.R182T|ATP5SL_uc002oqx.1_Missense_Mutation_p.E203D|ATP5SL_uc002oqy.1_Missense_Mutation_p.R176T|ATP5SL_uc002oqz.1_Missense_Mutation_p.R149T	NM_018035	NP_060505	Q9NW81	AT5SL_HUMAN	ATP5S-like	230										large_intestine(1)|breast(1)	2						CTCCCACAACCTCGCAATTGG	0.627												
SLC8A2	6543	broad.mit.edu	37	19	47969322	47969322	+	Silent	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:47969322G>A	uc002pgx.2	-	2	617	c.339C>T	c.(337-339)AAC>AAT	p.N113N	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.N113N	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	113	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGTCTCACCGTTGGCCTTGG	0.577												
FCGRT	2217	broad.mit.edu	37	19	50017644	50017644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:50017644G>A	uc002poe.2	+	4	988	c.502G>A	c.(502-504)GAC>AAC	p.D168N	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.D168N|FCGRT_uc002pof.1_Missense_Mutation_p.D73N|FCGRT_uc010yax.1_Missense_Mutation_p.D168N|FCGRT_uc002poh.1_Missense_Mutation_p.D28N	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	168	Extracellular (Potential).|Alpha-2.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCAGCAGCAGGACAAGGCGGC	0.652												
RRAS	6237	broad.mit.edu	37	19	50138991	50138991	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:50138991C>G	uc002pop.1	-	5	617	c.572G>C	c.(571-573)CGG>CCG	p.R191P		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	191					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CTTGGCTCACCGGACAGCCCG	0.607												
CLEC11A	6320	broad.mit.edu	37	19	51228703	51228703	+	Silent	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr19:51228703C>T	uc002psy.2	+	4	1129	c.951C>T	c.(949-951)TAC>TAT	p.Y317Y		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	317	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCTCTACTACGTCTGCGAGT	0.701												
RRM2	6241	broad.mit.edu	37	2	10263605	10263605	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:10263605A>G	uc002rah.2	+	3	457	c.266A>G	c.(265-267)GAT>GGT	p.D89G		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	89					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GAGTACCATGATATCTGGCAG	0.582												
KCNG3	170850	broad.mit.edu	37	2	42671708	42671708	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:42671708G>C	uc002rsn.2	-	2	1273	c.677C>G	c.(676-678)GCT>GGT	p.A226G	KCNG3_uc002rsm.2_Missense_Mutation_p.A215G	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	226	Helical; Name=Segment S2; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						TATGCAGATAGCTTCAATTAT	0.358												
NEB	4703	broad.mit.edu	37	2	152581987	152581987	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:152581987C>G	uc010fnx.2	-	6	573	c.382G>C	c.(382-384)GTA>CTA	p.V128L		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	128	Nebulin 2.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGATCTTGTACTTTTTTGATT	0.398												
ZDBF2	57683	broad.mit.edu	37	2	207175935	207175935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:207175935C>T	uc002vbp.2	+	5	6933	c.6683C>T	c.(6682-6684)TCG>TTG	p.S2228L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGTATATTTCGAAATACTCT	0.358												
CPS1	1373	broad.mit.edu	37	2	211507237	211507237	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr2:211507237G>T	uc002vee.3	+	25	3121	c.2989G>T	c.(2989-2991)GTC>TTC	p.V997F	CPS1_uc010fur.2_Missense_Mutation_p.V1003F|CPS1_uc010fus.2_Missense_Mutation_p.V546F	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	997					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTGGTGTGCTGTCTCTAGTAT	0.453												
C20orf43	51507	broad.mit.edu	37	20	55048432	55048432	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr20:55048432G>C	uc002xxt.2	+	2	252	c.145G>C	c.(145-147)GTT>CTT	p.V49L	C20orf43_uc010zzf.1_Missense_Mutation_p.V79L|C20orf43_uc002xxu.2_Missense_Mutation_p.V49L|C20orf43_uc002xxv.2_Missense_Mutation_p.V49L	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	49										ovary(1)	1			Colorectal(105;0.202)			ACGACCAATAGTTGCCTGTGA	0.328												
CDH4	1002	broad.mit.edu	37	20	60503257	60503257	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr20:60503257C>T	uc002ybn.1	+	12	1795	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	CDH4_uc002ybp.1_Missense_Mutation_p.P520L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	594	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATACCCCCGGCCAGCGGC	0.602												
FAM3B	54097	broad.mit.edu	37	21	42710319	42710319	+	Silent	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr21:42710319A>C	uc002yzb.1	+	3	324	c.178A>C	c.(178-180)AGG>CGG	p.R60R	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.R12R|FAM3B_uc002yzd.1_Silent_p.R83R|FAM3B_uc011aeq.1_Silent_p.R74R	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	60					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGTCCCCAAAAGGCAAAAATG	0.478												
SLC7A4	6545	broad.mit.edu	37	22	21385414	21385414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr22:21385414C>T	uc002zud.2	-	2	756	c.688G>A	c.(688-690)GCA>ACA	p.A230T	SLC7A4_uc002zue.2_Missense_Mutation_p.A230T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	230	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGAAGGGTGCAAAGCCGCCT	0.602												
GOLGA4	2803	broad.mit.edu	37	3	37368748	37368748	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr3:37368748C>G	uc003cgv.2	+	14	5675	c.5371C>G	c.(5371-5373)CAA>GAA	p.Q1791E	GOLGA4_uc010hgr.1_Missense_Mutation_p.Q1352E|GOLGA4_uc003cgw.2_Missense_Mutation_p.Q1813E|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.Q1672E	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1791	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACATGAAGATCAAAGTATGAT	0.373												
VPRBP	9730	broad.mit.edu	37	3	51458366	51458366	+	Silent	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr3:51458366G>A	uc003dbe.1	-	14	2226	c.2058C>T	c.(2056-2058)ATC>ATT	p.I686I	VPRBP_uc003dbf.1_5'UTR	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	686					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACACACAATTGATGATAATCT	0.423												
ARAP2	116984	broad.mit.edu	37	4	36189098	36189098	+	Silent	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr4:36189098A>C	uc003gsq.1	-	8	1991	c.1653T>G	c.(1651-1653)ACT>ACG	p.T551T	ARAP2_uc003gsr.1_Silent_p.T551T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	551	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAAAAACAAAAGTTCTTTGTG	0.299												
SLC6A18	348932	broad.mit.edu	37	5	1243688	1243688	+	Missense_Mutation	SNP	C	C	G	rs150034651		TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:1243688C>G	uc003jby.1	+	9	1273	c.1150C>G	c.(1150-1152)CTG>GTG	p.L384V		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	384	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCCCGGGCCTGGCCTTCGT	0.647												
MARCH6	10299	broad.mit.edu	37	5	10411480	10411480	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:10411480A>T	uc003jet.1	+	19	1910	c.1727A>T	c.(1726-1728)GAA>GTA	p.E576V	MARCH6_uc011cmu.1_Missense_Mutation_p.E528V|MARCH6_uc003jeu.1_Missense_Mutation_p.E274V|MARCH6_uc011cmv.1_Missense_Mutation_p.E471V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	576	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GACCAGGAAGAAAATGAAAAC	0.403												
RAB3C	115827	broad.mit.edu	37	5	58021913	58021913	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:58021913A>T	uc003jrp.2	+	3	434	c.337A>T	c.(337-339)ACA>TCA	p.T113S		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	113					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GTATGACATTACAAATGAAGA	0.383												
CMYA5	202333	broad.mit.edu	37	5	79034978	79034978	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:79034978A>C	uc003kgc.2	+	2	10462	c.10390A>C	c.(10390-10392)AAT>CAT	p.N3464H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3464						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATCAGTGAAAATGAATTTGC	0.413												
VCAN	1462	broad.mit.edu	37	5	82876239	82876239	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:82876239G>C	uc003kii.3	+	15	10533	c.10177G>C	c.(10177-10179)GAG>CAG	p.E3393Q	VCAN_uc003kij.3_Missense_Mutation_p.E2406Q|VCAN_uc010jau.2_Missense_Mutation_p.E1639Q|VCAN_uc003kik.3_Missense_Mutation_p.E652Q|VCAN_uc003kil.3_Missense_Mutation_p.E2057Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3393					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGGTGGCAGGAGTCGAGGCG	0.408												
ELL2	22936	broad.mit.edu	37	5	95278749	95278749	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:95278749A>T	uc003klr.3	-	2	502	c.152T>A	c.(151-153)TTA>TAA	p.L51*		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	51					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AAAAGGAATTAAATTCTATTA	0.308												
APC	324	broad.mit.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:112174631C>T	uc010jby.2	+	16	3720	c.3340C>T	c.(3340-3342)CGA>TGA	p.R1114*	APC_uc011cvt.1_Nonsense_Mutation_p.R1096*|APC_uc003kpz.3_Nonsense_Mutation_p.R1114*|APC_uc003kpy.3_Nonsense_Mutation_p.R1114*|APC_uc010jbz.2_Nonsense_Mutation_p.R831*|APC_uc010jca.2_Nonsense_Mutation_p.R414*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1114	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R1114*(22)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(SW948_LARGE_INTESTINE)|R1114*(LOVO_LARGE_INTESTINE)	12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
PCDHB8	56128	broad.mit.edu	37	5	140558485	140558485	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:140558485C>G	uc011dai.1	+	1	1056	c.870C>G	c.(868-870)AGC>AGG	p.S290R	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAGATAAGCAAAACTTTTA	0.403												
HRH2	3274	broad.mit.edu	37	5	175110463	175110463	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr5:175110463C>A	uc003mdd.2	+	1	2000	c.227C>A	c.(226-228)GCC>GAC	p.A76D	HRH2_uc003mdc.3_Missense_Mutation_p.A76D	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	76	Helical; Name=2; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCCTTCTCTGCCATCTACCAG	0.557												
CDYL	9425	broad.mit.edu	37	6	4935819	4935819	+	Silent	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:4935819G>C	uc003mwi.2	+	5	1055	c.924G>C	c.(922-924)GTG>GTC	p.V308V	CDYL_uc003mwj.2_Silent_p.V254V|CDYL_uc003mwk.2_Silent_p.V19V|CDYL_uc011dhx.1_Silent_p.V122V|CDYL_uc011dhy.1_Silent_p.V122V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	308					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTACAGGAGTGACTGCCAGCA	0.453												
CDKAL1	54901	broad.mit.edu	37	6	20846367	20846367	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:20846367C>G	uc003ndc.1	+	9	874	c.700C>G	c.(700-702)CCA>GCA	p.P234A	CDKAL1_uc003ndd.1_Missense_Mutation_p.P234A|CDKAL1_uc003nde.1_Missense_Mutation_p.P164A	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	234					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGCCAGTTATCCAATTGATGA	0.318												
OR2J2	26707	broad.mit.edu	37	6	29141694	29141694	+	Silent	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:29141694G>A	uc011dlm.1	+	1	384	c.282G>A	c.(280-282)TCG>TCA	p.S94S		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGACCATCTCGTATGCTGGTT	0.473												
GSTA5	221357	broad.mit.edu	37	6	52701078	52701078	+	Silent	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:52701078G>C	uc003pba.1	-	4	298	c.228C>G	c.(226-228)GCC>GCG	p.A76A		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	76	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGTATTTGCTGGCAATGTAGT	0.433												
MED23	9439	broad.mit.edu	37	6	131914216	131914216	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr6:131914216C>T	uc003qcs.1	-	24	3502	c.3328G>A	c.(3328-3330)GTG>ATG	p.V1110M	MED23_uc003qcq.2_Missense_Mutation_p.V1116M|MED23_uc003qcr.1_Translation_Start_Site	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1110					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGAGCTCCACACAAGTAACA	0.468												
FBXO24	26261	broad.mit.edu	37	7	100192033	100192033	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr7:100192033T>C	uc003uvm.1	+	6	1114	c.821T>C	c.(820-822)GTG>GCG	p.V274A	FBXO24_uc003uvl.1_Missense_Mutation_p.V260A|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.V312A|FBXO24_uc011kka.1_Missense_Mutation_p.V262A	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	274						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTTGGTAGTGAATGAGACC	0.547												
MUC17	140453	broad.mit.edu	37	7	100686417	100686417	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr7:100686417C>T	uc003uxp.1	+	3	11773	c.11720C>T	c.(11719-11721)ACC>ATC	p.T3907I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3907	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTTTTACCCCTTCTACT	0.483												
GPR37	2861	broad.mit.edu	37	7	124386683	124386683	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr7:124386683T>G	uc003vli.2	-	2	2389	c.1738A>C	c.(1738-1740)AGT>CGT	p.S580R		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	580	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TTGTCATCACTGGTCACCGTT	0.498												
TEX15	56154	broad.mit.edu	37	8	30699691	30699691	+	Silent	SNP	A	A	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr8:30699691A>T	uc003xil.2	-	1	6843	c.6843T>A	c.(6841-6843)CCT>CCA	p.P2281P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2281										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATTTTCCCCAGGTTTTACAA	0.328												
OSR2	116039	broad.mit.edu	37	8	99961741	99961741	+	Silent	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr8:99961741G>A	uc003yir.2	+	2	1096	c.561G>A	c.(559-561)TTG>TTA	p.L187L	OSR2_uc010mbn.2_Silent_p.L187L|OSR2_uc003yiq.2_Silent_p.L187L|OSR2_uc011lgx.1_Silent_p.L308L	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	187	C2H2-type 1.				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCTACAATTTGCTCATCCATG	0.527												
ADCY8	114	broad.mit.edu	37	8	132052171	132052171	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr8:132052171T>G	uc003ytd.3	-	1	665	c.409A>C	c.(409-411)AGC>CGC	p.S137R	ADCY8_uc010mds.2_Missense_Mutation_p.S137R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	137	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGAGTTGCTAGGGGCACAG	0.607										HNSCC(32;0.087)		
KLHL9	55958	broad.mit.edu	37	9	21334270	21334270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:21334270G>A	uc003zoy.2	-	1	1160	c.589C>T	c.(589-591)CGA>TGA	p.R197*	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	197	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AATGCAAGTCGTTCAAAAGGG	0.398												
ALAD	210	broad.mit.edu	37	9	116151266	116151266	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:116151266G>T	uc011lxf.1	-	11	1124	c.922C>A	c.(922-924)CGC>AGC	p.R308S	ALAD_uc011lxe.1_Missense_Mutation_p.R291S|ALAD_uc004bhl.3_Missense_Mutation_p.R337S	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	308					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	CCTGCTCTGCGGAAGGCAGTC	0.597												
TNFSF15	9966	broad.mit.edu	37	9	117568086	117568086	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:117568086G>C	uc004bjh.2	-	1	323	c.207C>G	c.(205-207)TTC>TTG	p.F69L		NM_005118	NP_005109	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily,	69	Extracellular (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding				0						GGCTTACCTGGAACTGCACAC	0.572												
TLR7	51284	broad.mit.edu	37	X	12906522	12906522	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:12906522A>C	uc004cvc.2	+	3	3034	c.2895A>C	c.(2893-2895)GAA>GAC	p.E965D		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	965	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CAAAGACTGAAAATTTTAAGA	0.398												
GRIPAP1	56850	broad.mit.edu	37	X	48837686	48837686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:48837686C>T	uc004dly.1	-	21	1906	c.1871G>A	c.(1870-1872)CGG>CAG	p.R624Q	GRIPAP1_uc004dlz.2_Missense_Mutation_p.R514Q|GRIPAP1_uc004dma.2_Missense_Mutation_p.R545Q	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	624	Potential.					early endosome				breast(2)|kidney(1)	3						CTTATCTGCCCGTTTCCGCTC	0.612												
WDR45	11152	broad.mit.edu	37	X	48934155	48934155	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:48934155A>G	uc004dmk.1	-	6	542	c.370T>C	c.(370-372)TAT>CAT	p.Y124H	PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.Y74H|WDR45_uc004dml.1_Missense_Mutation_p.Y125H|WDR45_uc004dmm.1_Missense_Mutation_p.Y89H|WDR45_uc010nim.1_Missense_Mutation_p.Y124H|WDR45_uc004dmn.1_Missense_Mutation_p.Y15H|WDR45_uc004dmo.1_Missense_Mutation_p.Y147H|WDR45_uc004dmp.1_Missense_Mutation_p.Y125H	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	124					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						GAGTACACATAGATGCGGTTC	0.562												
AKAP4	8852	broad.mit.edu	37	X	49957932	49957932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:49957932C>T	uc004dow.1	-	5	1556	c.1432G>A	c.(1432-1434)GAC>AAC	p.D478N	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.D300N|AKAP4_uc004dou.1_Missense_Mutation_p.D469N	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	478					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTGCCTTTGTCCCTCTCTTTC	0.438												
ELF4	2000	broad.mit.edu	37	X	129208703	129208703	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:129208703C>G	uc004evd.3	-	3	485	c.100G>C	c.(100-102)GCT>CCT	p.A34P	ELF4_uc004eve.3_Missense_Mutation_p.A34P	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	34					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACGATCACAGCTGGGAACACA	0.537			T	ERG	AML							
GABRE	2564	broad.mit.edu	37	X	151123349	151123349	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chrX:151123349A>G	uc004ffi.2	-	9	1399	c.1345T>C	c.(1345-1347)TGG>CGG	p.W449R	GABRE_uc011myd.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	449	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGCACCACTCACAGCAG	0.617												
ARID2	196528	broad.mit.edu	37	12	46240719	46240738	+	Splice_Site	DEL	TGGTAAGTGGTTTATTTCTA	TGGTAAGTGGTTTATTTCTA	-			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:46240719_46240738delTGGTAAGTGGTTTATTTCTA	uc001ros.1	+	12	1580	c.1580_splice	c.e12+1	p.W527_splice	ARID2_uc001ror.2_Splice_Site_p.W527_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.W154_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCTTGTCAGTGGTAAGTGGTTTATTTCTATTAAGGATTT	0.359												
ARID2	196528	broad.mit.edu	37	12	46240719	46240738	+	Splice_Site	DEL	TGGTAAGTGGTTTATTTCTA	TGGTAAGTGGTTTATTTCTA	-			TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr12:46240719_46240738delTGGTAAGTGGTTTATTTCTA	uc001ros.1	+	12	1580	c.1580_splice	c.e12+1	p.W527_splice	ARID2_uc001ror.2_Splice_Site_p.W527_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.W154_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCTTGTCAGTGGTAAGTGGTTTATTTCTATTAAGGATTT	0.359												
PRUNE2	158471	broad.mit.edu	37	9	79461440	79461458	+	Frame_Shift_Del	DEL	GATGAGCCAGTTGCTCGGT	GATGAGCCAGTTGCTCGGT	-	rs73462346	byFrequency	TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:79461439_79461457CGATGAGCCAGTTGCTCGGT>C	uc010mpk.3	-	3	606_624	c.482_500ACCGAGCAACTGGCTCATCG>G	c.(481-501)accgagcaactggctcatcgcfs	p.T161fs	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Frame_Shift_Del_p.T161fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	161					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTCTGAGGCGATGAGCCAGTTGCTCGGTGATGAGCTC	0.498												
TLE4	7091	broad.mit.edu	37	9	82335151	82335163	+	Frame_Shift_Del	DEL	CATGCTGCAGCGA	CATGCTGCAGCGA	-	rs61112339	by1000genomes	TCGA-BR-4267-01A-01D-1126-08	TCGA-BR-4267-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a28c27a6-9a08-4262-bb11-28b611e84d29	50fe780e-876b-46e8-87c3-9f7315fa8c7d	g.chr9:82335150_82335162TCATGCTGCAGCGA>T	uc004ald.3	+	16	2704_2716	c.1855_1867TCATGCTGCAGCGA>T	c.(1855-1869)tcatgctgcagcgacfs	p.S619fs	TLE4_uc004alc.3_Frame_Shift_Del_p.S594fs|TLE4_uc010mpr.3_Frame_Shift_Del_p.S473fs|TLE4_uc004ale.3_Frame_Shift_Del_p.S231fs|TLE4_uc011lsq.2_Frame_Shift_Del_p.S562fs|TLE4_uc010mps.3_Frame_Shift_Del_p.S518fs|TLE4_uc004alf.3_Frame_Shift_Del_p.S533fs	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.G621*(1)|p.T619I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGTCTGCTTCTCATGCTGCAGCGACGGCAACAT	0.587