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
FCRL3	115352	broad.mit.edu	37	1	157667132	157667132	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr1:157667132C>G	uc001frb.2	-	6	934	c.642G>C	c.(640-642)CAG>CAC	p.Q214H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q214H|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_Intron|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.Q214H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	214	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GTGGAGAGAGCTGGGTCTCAC	0.557000												
OR51B5	282763	broad.mit.edu	37	11	5364208	5364208	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr11:5364208T>A	uc001map.1	-	1	547	c.547A>T	c.(547-549)ATT>TTT	p.I183F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.I183F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGAGTTTAATGACATCCTGG	0.438000												
OPCML	4978	broad.mit.edu	37	11	132290138	132290138	+	Silent	SNP	A	A	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr11:132290138A>G	uc001qgs.2	-	7	1037	c.987T>C	c.(985-987)GCT>GCC	p.A329A	OPCML_uc001qgu.2_Silent_p.A322A|OPCML_uc010sck.1_Silent_p.A338A|OPCML_uc001qgt.2_Silent_p.A328A|OPCML_uc010scl.1_Silent_p.A288A	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	329					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCCAGAGACAAGCCAGTGCTC	0.512000												
SOX5	6660	broad.mit.edu	37	12	23893843	23893843	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:23893843T>G	uc001rfw.2	-	5	801	c.699A>C	c.(697-699)AAA>AAC	p.K233N	SOX5_uc001rfx.2_Missense_Mutation_p.K220N|SOX5_uc001rfy.2_Missense_Mutation_p.K220N|SOX5_uc010siv.1_Missense_Mutation_p.K220N|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.K185N	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	233	Potential.				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GCTGACGCTGTTTCTCAATCT	0.498000												
WNT10B	7480	broad.mit.edu	37	12	49361823	49361823	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:49361823C>G	uc001rss.2	-	4	963	c.617G>C	c.(616-618)GGA>GCA	p.G206A	WNT10B_uc001rst.2_Intron	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	206					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						GAACTTCTCTCCAAAGTCCAT	0.453000												
PTGES3	10728	broad.mit.edu	37	12	57066579	57066579	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:57066579C>T	uc001slu.3	-	3	426	c.131G>A	c.(130-132)AGT>AAT	p.S44N	PTGES3_uc001slw.3_RNA|PTGES3_uc010sqs.1_Missense_Mutation_p.S44N|PTGES3_uc001slv.3_Missense_Mutation_p.S44N|PTGES3_uc010sqt.1_Missense_Mutation_p.S44N|PTGES3_uc009zox.2_Intron	NM_006601	NP_006592	Q15185	TEBP_HUMAN	prostaglandin-E synthase 3	44	CS.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding				0						AAAATTATCACTTCCTCCGAG	0.279000												
PTPRB	5787	broad.mit.edu	37	12	70918346	70918346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:70918346C>T	uc001swb.3	-	31	5906	c.5876G>A	c.(5875-5877)TGT>TAT	p.C1959Y	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.C1869Y|PTPRB_uc010stp.1_Missense_Mutation_p.C1869Y|PTPRB_uc001swc.3_Missense_Mutation_p.C2177Y|PTPRB_uc001swa.3_Missense_Mutation_p.C2089Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1959	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCTCTTACACACTGATGTAG	0.428000												
UTP20	27340	broad.mit.edu	37	12	101679619	101679619	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:101679619C>G	uc001tia.1	+	4	442	c.286C>G	c.(286-288)CTG>GTG	p.L96V	UTP20_uc009ztz.1_Missense_Mutation_p.L96V	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	96					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GAAGACTCACCTGCAAGTTAA	0.363000												
PAH	5053	broad.mit.edu	37	12	103249044	103249044	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr12:103249044C>A	uc001tjq.1	-	7	1048	c.576G>T	c.(574-576)AAG>AAT	p.K192N	PAH_uc010swc.1_Missense_Mutation_p.K192N	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	192					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTTCAGAGTCTTGAACACTG	0.433000												
ATP11A	23250	broad.mit.edu	37	13	113460568	113460568	+	Silent	SNP	T	T	C			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr13:113460568T>C	uc001vsi.3	+	4	382	c.294T>C	c.(292-294)CTT>CTC	p.L98L	ATP11A_uc001vsj.3_Silent_p.L98L|ATP11A_uc001vsm.1_5'UTR	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	98	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCGGACTTCCACTCTTCT	0.393000												
TRIM69	140691	broad.mit.edu	37	15	45047126	45047126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr15:45047126A>G	uc001zuf.2	+	3	930	c.35A>G	c.(34-36)GAT>GGT	p.D12G	TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.D12G|TRIM69_uc001zuh.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	12	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCCAACATCGATCCAGGCGAC	0.433000												
EIF3CL	728689	broad.mit.edu	37	16	28734801	28734801	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr16:28734801G>T	uc010byj.2	+	11	1061	c.972G>T	c.(970-972)GAG>GAT	p.E324D	uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.E323D|EIF3CL_uc002dqs.3_Missense_Mutation_p.E323D|EIF3C_uc002dqt.3_Missense_Mutation_p.E323D|EIF3CL_uc010vcy.1_Missense_Mutation_p.E313D|EIF3C_uc002dqu.3_Missense_Mutation_p.E323D|EIF3CL_uc002dqv.3_Missense_Mutation_p.E69D	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN	eukaryotic translation initiation factor 3,	324						eukaryotic translation initiation factor 3 complex	translation initiation factor activity				0						AGGGAACTGAGATCACCCATG	0.502000												
SPACA3	124912	broad.mit.edu	37	17	31323950	31323950	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr17:31323950A>C	uc002hhs.1	+	3	508	c.433A>C	c.(433-435)ATC>CTC	p.I145L	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	145	Extracellular (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			GATCTTCCAGATCAACAGCCG	0.602000												
RSAD1	55316	broad.mit.edu	37	17	48562190	48562190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr17:48562190C>T	uc002iqw.1	+	9	1353	c.1297C>T	c.(1297-1299)CAG>TAG	p.Q433*	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	433					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCCTGGCAGCAGAGAACCCC	0.572000												
ABCA9	10350	broad.mit.edu	37	17	66980283	66980283	+	Silent	SNP	C	C	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr17:66980283C>T	uc002jhu.2	-	35	4556	c.4413G>A	c.(4411-4413)GAG>GAA	p.E1471E	ABCA9_uc010dez.2_Silent_p.E1433E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1471	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					GGGCGCCCCTCTCCGTGTTTC	0.522000												
TSSK6	83983	broad.mit.edu	37	19	19625817	19625817	+	Silent	SNP	G	G	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:19625817G>A	uc002nmr.2	-	1	653	c.420C>T	c.(418-420)AAC>AAT	p.N140N	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	140	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						TCAGCAGCACGTTTTCGCACT	0.672000												
ZNF461	92283	broad.mit.edu	37	19	37130886	37130886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:37130886C>A	uc002oem.2	-	6	589	c.361G>T	c.(361-363)GAA>TAA	p.E121*	ZNF461_uc002oen.2_Nonsense_Mutation_p.E90*|ZNF461_uc010xtj.1_Nonsense_Mutation_p.E98*	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGGATAATTCTGTTTCATAA	0.378000												
RYR1	6261	broad.mit.edu	37	19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:38966037G>A	uc002oit.2	+	29	4370	c.4240G>A	c.(4240-4242)GTG>ATG	p.V1414M	RYR1_uc002oiu.2_Missense_Mutation_p.V1414M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1414	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)	CCCTCACGACGTGGTGCCTGC	0.612000												
NLRP2	55655	broad.mit.edu	37	19	55489171	55489171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr19:55489171G>A	uc002qij.2	+	4	463	c.377G>A	c.(376-378)CGC>CAC	p.R126H	NLRP2_uc010yfp.1_Missense_Mutation_p.R103H|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.R126H|NLRP2_uc010esp.2_Missense_Mutation_p.R126H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	126					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATGCTGGAGCGCTTCAAAACA	0.537000												
C2orf49	79074	broad.mit.edu	37	2	105959525	105959525	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr2:105959525A>G	uc002tcs.1	+	3	519	c.487A>G	c.(487-489)AAA>GAA	p.K163E	C2orf49_uc010fjd.1_Intron	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	ashwin	163						tRNA-splicing ligase complex					0						TGTGAACAATAAAACGGAACA	0.428000												
SPEG	10290	broad.mit.edu	37	2	220331910	220331910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr2:220331910C>T	uc010fwg.2	+	10	2896	c.2896C>T	c.(2896-2898)CGG>TGG	p.R966W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	966	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCTGAAAGCCGGTCCCTGGC	0.672000											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SLMO2	51012	broad.mit.edu	37	20	57613669	57613669	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr20:57613669G>T	uc002yam.2	-	2	169	c.53C>A	c.(52-54)ACA>AAA	p.T18K	SLMO2_uc010zzv.1_Missense_Mutation_p.T18K	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2	18	PRELI/MSF1.									skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			TGCAGCTGTTGTAACAGTTTC	0.373000												
ZBTB46	140685	broad.mit.edu	37	20	62407312	62407312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr20:62407312G>A	uc002ygv.1	-	3	1142	c.941C>T	c.(940-942)GCG>GTG	p.A314V	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGACAGGTCCGCATCTGGGGA	0.617000												
AKAP12	9590	broad.mit.edu	37	6	151671966	151671966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr6:151671966C>T	uc011eep.1	+	4	2680	c.2440C>T	c.(2440-2442)CGA>TGA	p.R814*	AKAP12_uc003qoe.2_Nonsense_Mutation_p.R814*|AKAP12_uc003qof.2_Nonsense_Mutation_p.R716*|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Nonsense_Mutation_p.R709*	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	814	AKAP 3.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TATTCCTGGACGAAGGAAGAA	0.517000												
ABCB4	5244	broad.mit.edu	37	7	87031414	87031414	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr7:87031414A>G	uc003uiv.1	-	28	3935	c.3859T>C	c.(3859-3861)TGA>CGA	p.*1287R	ABCB4_uc003uiw.1_Nonstop_Mutation_p.*1280R|ABCB4_uc003uix.1_Nonstop_Mutation_p.*1233R	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1287					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCAAAAGTTCATAAGTTCTGT	0.368000												
ZNF804B	219578	broad.mit.edu	37	7	88966144	88966144	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr7:88966144T>G	uc011khi.1	+	4	4386	c.3848T>G	c.(3847-3849)CTT>CGT	p.L1283R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1283						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACATAACACTTCAGCCTCTG	0.468000										HNSCC(36;0.09)		
ATP7A	538	broad.mit.edu	37	X	77298826	77298826	+	Silent	SNP	G	G	A			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chrX:77298826G>A	uc004ecx.3	+	21	4177	c.4017G>A	c.(4015-4017)CTG>CTA	p.L1339L		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1339	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						ATGATCTTCTGGATGTAGTGG	0.328000												
MFSD4	148808	broad.mit.edu	37	1	205538403	205538403	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr1:205538403delC	uc001hcv.3	+	1	292	c.206delC	c.(205-207)GCCfs	p.A69fs	MFSD4_uc010prk.1_Frame_Shift_Del_p.A69fs|MFSD4_uc010prl.1_RNA	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	69	Helical; (Potential).				transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGGGCAGCGCCCTCGGGGGC	0.488												
HCN4	10021	broad.mit.edu	37	15	73615350	73615351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr15:73615350_73615351insG	uc002avp.2	-	8	4077_4078	c.3083_3084insC	c.(3082-3084)CCTfs	p.P1028fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1028	Pro-rich.|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGCTGTGGCCAGGGGGGCTGAG	0.718												
MBD5	55777	broad.mit.edu	37	2	149243323	149243323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr2:149243323delC	uc002twm.3	+	11	3846	c.2858delC	c.(2857-2859)TCAfs	p.S953fs	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Frame_Shift_Del_p.S953fs|MBD5_uc002two.2_Frame_Shift_Del_p.S211fs|MBD5_uc002twp.2_Frame_Shift_Del_p.S3fs	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	953						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GATATGTCATCAATAAACAAT	0.363												
CNTFR	1271	broad.mit.edu	37	9	34568927	34568929	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BR-8291-01A-11D-2340-08	TCGA-BR-8291-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8dddc2ef-25b3-4061-beb5-7a74560c354d	4ebd9f1e-b33c-40e7-a3ec-a898797b88b0	g.chr9:34568927_34568929delGCG	uc003zup.1	-	3	332_334	c.51_53delCGC	c.(49-54)GCCGCA>GCA	p.17_18AA>A	CNTFR_uc003zuq.1_In_Frame_Del_p.17_18AA>A|LOC415056_uc003zut.2_Intron|LOC415056_uc003zur.2_Intron|LOC415056_uc003zus.2_Intron	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	17_18					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GTAGACAACTGCGGCGGCGGCGG	0.665