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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FCGRT	2217	broad.mit.edu	37	19	50028719	50028719	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50028719C>G	uc002pog.2	+	4	1099	c.877C>G	c.(877-879)Cca>Gca	p.P293A	FCGRT_uc002poe.2_Missense_Mutation_p.P293A|FCGRT_uc002poi.2_Non-coding_Transcript|RCN3_uc002poj.3_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	293	Connecting peptide.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		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)		TGCAGAATCTCCAGCCAAGTC	0.617000													10	117					0	0	1	0	0
PYCARD	29108	broad.mit.edu	37	16	31213495	31213495	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:31213495C>T	uc010cak.3	-	1	390	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	PYCARD_uc002ebm.3_Intron	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	Homo sapiens PYD and CARD domain containing (PYCARD), transcript variant 1, mRNA.	102					induction of apoptosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	Pyrin domain binding|caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity			NS(1)|kidney(1)	2						TGAGGAGGGGCCTGGATCCCA	0.701000													10	26					0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201453913	201453913	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:201453913A>G	uc021phg.1	-	5	663	c.510T>C	c.(508-510)tgT>tgC	p.C170C	CSRP1_uc001gwr.2_Non-coding_Transcript|CSRP1_uc021phh.1_Silent_p.C170C|CSRP1_uc001gws.3_Silent_p.C170C|CSRP1_uc010ppr.2_Silent_p.C164C	NM_001193572	NP_004069	P21291	CSRP1_HUMAN	Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA.	170	LIM zinc-binding 2.					nucleus	zinc ion binding	p.G169*(1)		large_intestine(3)|lung(2)|ovary(1)	6						TTTTAGCATAACATCCTGCAG	0.592000													5	23					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:126030321G>A	uc011liq.2	+	7	2151	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353000													12	26					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153732836	153732836	+	Silent	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153732836C>A	uc009wom.3	+	12	1508	c.1287C>A	c.(1285-1287)atC>atA	p.I429I	INTS3_uc001fct.3_Silent_p.I429I|INTS3_uc001fcu.3_Silent_p.I121I|INTS3_uc001fcv.3_Silent_p.I223I|INTS3_uc010peb.2_Silent_p.I223I|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	430					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAGCCATCACTGCCACAC	0.522000													5	46					0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48146608	48146608	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:48146608T>C	uc003toj.3	+	7	1104	c.575T>C	c.(574-576)cTg>cCg	p.L192P	UPP1_uc003tok.3_Missense_Mutation_p.L192P|UPP1_uc003tol.3_Missense_Mutation_p.L192P|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Missense_Mutation_p.L55P	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	192					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GAGCTGTTGCTGTGTTCTGCA	0.542000													17	67					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24075812	24075812	+	Silent	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chrX:24075812T>C	uc004dbc.3	+	3	345	c.324T>C	c.(322-324)agT>agC	p.S108S		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	108						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTGGGAGCAGTACACCTGACG	0.373000													4	28					0	0	1	0	0
COX11	1353	broad.mit.edu	37	17	53040259	53040259	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:53040259T>G	uc010wng.1	-	3	723	c.666A>C	c.(664-666)gaA>gaC	p.E222D	COX11_uc010wne.1_Intron|COX11_uc010wnf.1_Intron|COX11_uc002iue.2_Non-coding_Transcript	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	222					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TAAGCCTTTGTTCTTCAAAAC	0.308000													6	58					0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5185354	5185354	+	Silent	SNP	C	C	T	rs146054352	by1000genomes	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:5185354C>T	uc003zix.3	-	0	265	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	83						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527000													14	170					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967145	106967145	+	RNA	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:106967145G>T	uc021ser.1	-	263		c.10355C>A								Parts of antibodies, mostly variable regions.																		TGGTGACTCTGCCCTGGAACT	0.557000													45	153					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645757	215645757	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:215645757G>A	uc002veu.2	-	3	976	c.841C>T	c.(841-843)Cca>Tca	p.P281S	BARD1_uc021vwe.1_Missense_Mutation_p.P262S|BARD1_uc021vwf.1_Missense_Mutation_p.P184S|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.P137S|BARD1_uc021vwj.1_Missense_Mutation_p.P281S	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	281					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCCAATGGTAAAGAGACT	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				19	42					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531641	140531641	+	Silent	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140531641G>A	uc003lir.3	+	0	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.716000													20	68					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4165101	4165101	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:4165101G>A	uc002cvx.3	-	1	882	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	115					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	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCGGAACCGGCGCTGGGTC	0.627000													13	56					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627139	29627139	+	Silent	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:29627139G>C	uc003nnf.3	+	1	361	c.132G>C	c.(130-132)ctG>ctC	p.L44L	MOG_uc003qzk.2_Silent_p.L44L|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Silent_p.L44L|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.L44L|MOG_uc003nng.3_Silent_p.L44L|MOG_uc003nni.3_Silent_p.L44L|MOG_uc003nnh.3_Silent_p.L44L|MOG_uc003nnj.3_Silent_p.L44L|MOG_uc003nnk.3_Silent_p.L44L	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	44	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.A43V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCGGGCTCTGGTCGGGGATG	0.552000													57	178					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33656197	33656197	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:33656197G>A	uc021ywr.1	+	47	6781	c.6557G>A	c.(6556-6558)cGc>cAc	p.R2186H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2186					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGTGGCAGCGCAAGCTCCGC	0.622000													3	26					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35725562	35725562	+	Splice_Site	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35725562G>A	uc003zxt.2	-	2	484	c.130_splice	c.e2+1	p.P44_splice	TLN1_uc003zxu.4_Splice_Site_p.P44_splice	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	44					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGACTCACGAGGACCAGCT	0.587000													36	84					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784549	140784549	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140784549G>T	uc003lkh.2	+	0	2030	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.S677I	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGGCAGTCTTCAGATC	0.592000													16	102					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55422829	55422829	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:55422829C>T	uc003jqu.3	-	7	869	c.717G>A	c.(715-717)gcG>gcA	p.A239A		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	238										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGCCCGCTGCCGCTGCGATAT	0.493000													4	111					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149359955	149359955	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:149359955T>A	uc003lrh.3	+	2	1067	c.799T>A	c.(799-801)Tct>Act	p.S267T		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	267						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TATTCTTACATCTCAGGCCAA	0.473000													4	126					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810483	106810483	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:106810483C>T	uc009yxn.1	-	3	1299	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GUCY1A2_uc001pjg.1_Silent_p.K303K|GUCY1A2_uc010rvo.1_Silent_p.K303K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	303					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGGAAGGTTCTTCATGATAT	0.428000													9	28					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54895540	54895540	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:54895540A>G	uc002rxu.3	+	35	7178	c.6929A>G	c.(6928-6930)aAa>aGa	p.K2310R	SPTBN1_uc010you.2_Missense_Mutation_p.K300R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	2310					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTCTGATAAACACGAGGTG	0.592000													25	56					0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1990838	1990838	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:1990838G>T	uc021tam.1	-	2	397	c.260C>A	c.(259-261)cCc>cAc	p.P87H	TCRBV20S1_uc021tak.1_Intron	NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN	Homo sapiens selenoprotein X, 1 (SEPX1), mRNA.	87					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	CCCCGGCTTGGGGCCGTCGTT	0.577000													6	67					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134256	119134256	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:119134256G>C	uc003ecj.4	+	11	4012	c.3480G>C	c.(3478-3480)caG>caC	p.Q1160H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTTACTCCCAGGACCCCCAGG	0.532000													23	28					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075334	106075334	+	Missense_Mutation	SNP	C	C	T	rs145318706		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:106075334C>T	uc001kyf.3	-	2	929	c.476G>A	c.(475-477)cGt>cAt	p.R159H	ITPRIP_uc001kye.3_Missense_Mutation_p.R159H|ITPRIP_uc001kyg.3_Missense_Mutation_p.R159H|ITPRIP_uc021pxv.1_Missense_Mutation_p.R159H	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	159						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCCGGGTACGGGCTGCATC	0.657000													4	64					0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177019240	177019240	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:177019240C>A	uc003mhx.3	+	0	28	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 9 (TMED9), mRNA.	9					transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCGTGCTGCTCGTCCGGCC	0.736000													4	28					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62233593	62233593	+	Splice_Site	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:62233593G>T	uc001xft.3	+	2	233	c.129_splice	c.e2-1	p.C43_splice		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	43	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTTTATTAGTGGCAGAATG	0.308000													7	14					0	0	1	0	0
C9orf100	84904	broad.mit.edu	37	9	35662653	35662653	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35662653A>G	uc003zxm.1	-	6	871	c.759T>C	c.(757-759)gaT>gaC	p.D253D	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	253	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGGAGCACATCAGTGAAGA	0.647000													5	16					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376763	200376763	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376763G>C	uc001gve.3	-	1	2178	c.2071C>G	c.(2071-2073)Caa>Gaa	p.Q691E	ZNF281_uc001gvf.1_Missense_Mutation_p.Q691E|ZNF281_uc001gvg.1_Missense_Mutation_p.Q655E|ZNF281_uc021phb.1_Missense_Mutation_p.Q691E	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	691					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGACAAATTGGAAACCGTGT	0.388000													6	141					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376772	200376772	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376772G>C	uc001gve.3	-	1	2169	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	ZNF281_uc001gvf.1_Missense_Mutation_p.H688D|ZNF281_uc001gvg.1_Missense_Mutation_p.H652D|ZNF281_uc021phb.1_Missense_Mutation_p.H688D	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	688					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGAAACCGTGTCCAAGAGTA	0.393000													7	146					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509947	53509947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:53509947C>T	uc001sbv.3	+	6	863	c.775C>T	c.(775-777)Cga>Tga	p.R259*	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	259					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCGTGCCAGACGAGGTGAGGC	0.542000													6	54					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576863	28576863	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr18:28576863C>T	uc002kwj.4	-	14	2542	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	DSC3_uc002kwi.4_Missense_Mutation_p.G796E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	796					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGATGCCCAGCCCCCCG	0.517000													12	33					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161697142	161697142	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:161697142C>T	uc001gbh.3	+	7	1205	c.971C>T	c.(970-972)tCg>tTg	p.S324L	FCRLB_uc009wus.3_Missense_Mutation_p.S324L|FCRLB_uc001gbi.3_Missense_Mutation_p.S324L|FCRLB_uc001gbj.3_Missense_Mutation_p.R276W|FCRLB_uc001gbk.3_3'UTR|FCRLB_uc001gbl.3_Missense_Mutation_p.R269W|FCRLB_uc001gbm.3_3'UTR|FCRLB_uc001gbn.4_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	324						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGTCCAGATCGGTCCCGTTG	0.721000													3	52					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42684054	42684054	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:42684054C>T	uc003clo.3	+	13	4255	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	NKTR_uc011azp.2_Missense_Mutation_p.R169W|NKTR_uc003clp.3_Missense_Mutation_p.R1117W|NKTR_uc003cls.3_Missense_Mutation_p.R1070W	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1370					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACCAGAAGCCGGAGCAGTTC	0.438000													5	69					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134889831	134889831	+	Silent	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:134889831T>C	uc004cbe.2	-	2	415	c.372A>G	c.(370-372)gcA>gcG	p.A124A	MED27_uc004cbf.2_Silent_p.A124A|MED27_uc011mco.2_Silent_p.A124A|MED27_uc004cbg.4_Silent_p.A124A	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	Homo sapiens mediator complex subunit 27 (MED27), transcript variant 1, mRNA.	124					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AAAGGCCAGATGCTAGTCCTG	0.423000													5	30					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326610	64326610	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:64326610G>A	uc001oai.3	+	1	771	c.397G>A	c.(397-399)Gac>Aac	p.D133N	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Missense_Mutation_p.D133N|SLC22A11_uc001oak.1_5'Flank	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	133					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTTGCAGTGGGACCTGGTGTG	0.637000													24	68					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143558527	143558527	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:143558527C>T	uc003ywm.3	+	3	1293	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	370	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCACCTGCGGCGAGGGCT	0.697000													4	21					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:47696425A>C	uc002ipg.3	-	4	695	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_uc010dbk.3_Missense_Mutation_p.F133C|SPOP_uc002ipb.3_Missense_Mutation_p.F133C|SPOP_uc002ipc.3_Missense_Mutation_p.F133C|SPOP_uc002ipd.3_Missense_Mutation_p.F133C|SPOP_uc002ipe.3_Missense_Mutation_p.F133C|SPOP_uc002ipf.3_Missense_Mutation_p.F133C	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)|p.F133C(6)|p.F133S(4)|p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448000										Prostate(2;0.17)			29	116					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113172713	113172713	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:113172713T>C	uc003eag.4	-	13	2033	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.E477G	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	581					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAAGGTCTTCTCTTCCCAATT	0.403000													4	81					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000													7	33					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58300782	58300782	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:58300782T>G	uc002iyo.1	-	13	1884	c.1598A>C	c.(1597-1599)gAa>gCa	p.E533A	USP32_uc002iyn.1_Missense_Mutation_p.E203A	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	533	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTTACTGGTTCTTGAGTTAC	0.338000													13	28					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257020	140257020	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140257020G>A	uc003lic.2	+	0	2090	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.G655S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	666	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGACCACGGTGAGCCCGC	0.687000													4	74					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9031007	9031007	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:9031007C>T	uc001apm.3	+	6	835	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	CA6_uc009vmn.3_Missense_Mutation_p.H211Y	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	271					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCTGAACCACAGAGTGGT	0.532000													15	63					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158587	50158587	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr15:50158587C>T	uc001zxu.3	-	25	3264	c.3122G>A	c.(3121-3123)aGt>aAt	p.S1041N	ATP8B4_uc010ber.3_Missense_Mutation_p.S914N|ATP8B4_uc010ufd.2_Missense_Mutation_p.S851N|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.S44N	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1041					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GATGCCATTACTGTGCATTGT	0.403000													19	64					0	0	1	0	0
FAM123A	219287	broad.mit.edu	37	13	25744275	25744275	+	Silent	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr13:25744275G>T	uc001uqb.3	-	0	1583	c.1483C>A	c.(1483-1485)Cgg>Agg	p.R495R	FAM123A_uc001uqa.3_Silent_p.R376R|FAM123A_uc001uqc.3_Silent_p.R376R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	495										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGGGAATCCGGTTGAGCCTC	0.642000													8	53					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341608	25341608	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341608A>T	uc003xep.1	+	9	1724	c.1247A>T	c.(1246-1248)aAa>aTa	p.K416I	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.K416I|CDCA2_uc003xeq.1_Missense_Mutation_p.K401I|CDCA2_uc003xer.1_Missense_Mutation_p.K79I	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	416					cell division|mitosis	cytoplasm|nucleus		p.R415H(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCATTGCGTAAAGGAGGAACA	0.438000													19	54					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158605702	158605702	+	Splice_Site	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:158605702C>A	uc001fst.1	-	38	5631	c.5432_splice	c.e38+1	p.R1811_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1811					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCCACTCACCGGGCCTTGG	0.537000													4	98					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165379	50165379	+	Missense_Mutation	SNP	C	C	A	rs142339594		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50165379C>A	uc002poy.2	-	4	1827	c.808G>T	c.(808-810)Ggg>Tgg	p.G270W	IRF3_uc021uxp.1_Missense_Mutation_p.G124W|IRF3_uc021uxq.1_Missense_Mutation_p.G124W|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Missense_Mutation_p.G270W|IRF3_uc021uxo.1_Missense_Mutation_p.G235W|IRF3_uc002pou.3_Missense_Mutation_p.G270W|IRF3_uc010end.2_Missense_Mutation_p.G270W|IRF3_uc002poz.1_Missense_Mutation_p.G270W	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	270	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCCAGTCCCCCACCCAGGCAG	0.667000													4	52					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75146556	75146556	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:75146556C>T	uc001owo.4	-	17	2351	c.1814G>A	c.(1813-1815)cGt>cAt	p.R605H	GDPD5_uc001owp.4_Missense_Mutation_p.R605H|GDPD5_uc001own.4_Missense_Mutation_p.R360H|GDPD5_uc009yuc.3_Missense_Mutation_p.R467H|GDPD5_uc009yud.3_Missense_Mutation_p.R486H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	605					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTTCAGCTAACGCCCACTCCG	0.592000													12	58					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065054	57065054	+	Splice_Site	SNP	C	C	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:57065054C>G	uc002qnj.3	+	8	970	c.899_splice	c.e8-1	p.G300_splice	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTTTCAGGCCAGCGATCTG	0.378000													7	49					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039186	242039186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:242039186C>A	uc002wan.1	-	0	725	c.232G>T	c.(232-234)Gga>Tga	p.G78*	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Nonsense_Mutation_p.G49*	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	49										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCCTCCATTGGAGGCT	0.512000													6	77					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797020	109797020	+	Missense_Mutation	SNP	C	C	A	rs144196647		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:109797020C>A	uc003ymy.1	-	1	413	c.308G>T	c.(307-309)tGc>tTc	p.C103F	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.C103F	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	103					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTCCTGGCTGCAGCAGTTACA	0.478000													4	135					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6703665	6703665	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:6703665G>A	uc001qpo.3	-	14	2437	c.2273C>T	c.(2272-2274)aCt>aTt	p.T758I	CHD4_uc001qpn.3_Missense_Mutation_p.T751I|CHD4_uc001qpp.3_Missense_Mutation_p.T755I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	758	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTCTGTACAGTTTTCCCAAG	0.493000													25	55					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424212	56424212	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:56424212T>G	uc010ygg.2	-	4	996	c.971A>C	c.(970-972)gAg>gCg	p.E324A		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	324	NACHT.						ATP binding	p.E324E(1)|p.S323F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCAAGCTCTCAGAGCGTGA	0.458000													16	60					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152857072	152857072	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:152857072C>T	uc021ozk.1	+	0	174	c.174C>T	c.(172-174)tgC>tgT	p.C58C	SMCP_uc001fat.3_Silent_p.C58C	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	58	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAATCACTGCTGCCAGCCAA	0.537000													17	183					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368503	145368503	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:145368503G>C	uc021oul.1	+	83	10516	c.10481G>C	c.(10480-10482)tGt>tCt	p.C3494S	NBPF10_uc010oye.2_Missense_Mutation_p.C853S|NBPF10_uc010oyi.2_Missense_Mutation_p.C422S|NBPF10_uc010oyj.2_Missense_Mutation_p.C210S|NBPF10_uc010oyl.2_Missense_Mutation_p.C210S	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3494										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGGATAGATGTTATTCGACT	0.463000													10	605					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787407	8787407	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:8787407G>C	uc003bra.3	+	1	387	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.V104L	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	104	Required for interaction with DAG1.				T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CTGGGCGGTGGTGCCATGCAT	0.607000													7	49					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341516	25341516	+	Silent	SNP	A	A	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341516A>C	uc003xep.1	+	9	1632	c.1155A>C	c.(1153-1155)ctA>ctC	p.L385L	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.L385L|CDCA2_uc003xeq.1_Silent_p.L370L|CDCA2_uc003xer.1_Silent_p.L48L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	385					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTGCCTTTCTAAATATGAGGA	0.338000													10	30					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7437324	7437324	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:7437324G>T	uc001mfe.3	+	3	1333	c.1096G>T	c.(1096-1098)Gct>Tct	p.A366S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	366	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTTCCAACGGCTGGCAGGCT	0.443000													16	56					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6670031	6670031	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:6670031G>A	uc002mfk.2	-	1	432	c.50C>T	c.(49-51)aCc>aTc	p.T17I	TNFSF14_uc002mfj.2_Missense_Mutation_p.T17I	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	17					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TGGGATGTCGGTCTGTCCATC	0.627000													6	117					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38545497	38545497	+	Splice_Site	SNP	T	T	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:38545497T>A	uc003ooa.4	-	7	1611	c.1035_splice	c.e7-1	p.R345_splice	BTBD9_uc010jwv.3_Splice_Site_p.R286_splice|BTBD9_uc003ony.4_Splice_Site_p.R277_splice|BTBD9_uc010jww.3_Splice_Site|BTBD9_uc010jwx.3_Splice_Site_p.R345_splice	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	345					cell adhesion			p.?(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAGTAAGACCTGTGAATCAAA	0.308000													3	39					0	0	1	0	0
LOC729264	729264	broad.mit.edu	37	16	32264937	32264937	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:32264937G>A	uc021tgy.1	+	0	288	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	LOC729264_uc002ecy.3_Non-coding_Transcript	NM_001243722	NP_001230651	Q9ULZ0	T53G3_HUMAN	Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA.	88						cytoplasm|nucleus											CTGTCTCCTCGAGCTGCAGGC	0.532000													4	84					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740927	44740927	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:44740927C>T	uc002oyu.3	+	5	2549	c.2344C>T	c.(2344-2346)Cgt>Tgt	p.R782C	ZNF227_uc010xwu.2_Missense_Mutation_p.R731C|ZNF227_uc002oyv.3_Missense_Mutation_p.R782C|ZNF227_uc010xwv.2_Missense_Mutation_p.R731C|ZNF227_uc010xww.2_Missense_Mutation_p.R703C|ZNF227_uc002oyw.3_Missense_Mutation_p.R754C|ZNF227_uc010ejh.3_Missense_Mutation_p.R775C|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TAAGGACTTCCGTCACCGTTC	0.413000													3	56					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110245	175110245	+	Silent	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:175110245C>A	uc003mdc.4	+	1	653	c.9C>A	c.(7-9)ccC>ccA	p.P3P	HRH2_uc003mdd.2_Silent_p.P3P	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	3					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	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)	GGATGGCACCCAATGGCACAG	0.567000													5	214					0	0	1	0	0
CCDC99	54908	broad.mit.edu	37	5	169015536	169015536	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:169015536A>T	uc003mae.4	+	1	395	c.116A>T	c.(115-117)aAt>aTt	p.N39I	CCDC99_uc010jjj.3_Intron|CCDC99_uc011deq.2_5'UTR|CCDC99_uc010jjk.3_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	39					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATTACAGAATCAATTGGAT	0.408000													14	39					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26671506	26671556	+	In_Frame_Del	DEL	ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG	ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG	-	rs11577542	by1000genomes	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:26671506_26671556delACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG	uc001bmd.4	-	1	1743_1793	c.1593_1643delCGTGAAGGGCCCCGGTGCTCCTGATGCCTCATTTCCCACCTGGAAAGAGGT	c.(1591-1644)gtcgtgaagggccccggtgctcctgatgcctcatttcccacctggaaagaggtt>gtt	p.531_548VVKGPGAPDASFPTWKEV>V		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	542	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCCCTTCACAACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACGACCTCTTTCC	0.629													2	4	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120480514	120480514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:120480514delG	uc001eik.3	-	19	3600	c.3303delC	c.(3301-3303)cccfs	p.P1101fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P1101fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1101	EGF-like 29.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGACATTGGGCACGTCAC	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	60	---	---	---	---					
SLC27A3	11000	broad.mit.edu	37	1	153748614	153748615	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153748614_153748615delGC	uc001fcz.3	+	0	847_848	c.782_783delGC	c.(781-783)ggcfs	p.G261fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	261					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCAGCTGCGGCGCGCGCGCGC	0.718													2	4	---	---	---	---					
BRPF1	7862	broad.mit.edu	37	3	9783062	9783063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:9783062_9783063insG	uc003bse.3	+	4	2192_2193	c.1793_1794insG	c.(1792-1794)ttgfs	p.L598fs	BRPF1_uc003bsf.3_Frame_Shift_Ins_p.L598fs|BRPF1_uc003bsg.3_Frame_Shift_Ins_p.L598fs|BRPF1_uc011ati.2_Frame_Shift_Ins_p.L598fs	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	598	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGGCATGACTTGGAGCGAGCTC	0.510													50	87	---	---	---	---					
NOL6	65083	broad.mit.edu	37	9	33465277	33465277	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:33465277delC	uc003zsz.3	-	19	2710	c.2609delG	c.(2608-2610)ggtfs	p.G870fs	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Frame_Shift_Del_p.G867fs|NOL6_uc011lob.2_Frame_Shift_Del_p.G818fs|NOL6_uc003ztb.1_Frame_Shift_Del_p.G870fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	870					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATCAGCGAAACCCTCACCAAG	0.627													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:89717695_89717696insT	uc001kfb.3	+	6	1752_1753	c.720_721insT	c.(718-723)tactttfs	p.Y240fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	240	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			27	51	---	---	---	---					
ADAM8	101	broad.mit.edu	37	10	135085058	135085058	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:135085058delC	uc021qbe.1	-	11	1344	c.1258delG	c.(1258-1260)gagfs	p.E420fs	ADAM8_uc009ybi.3_Frame_Shift_Del_p.E420fs|ADAM8_uc010qva.2_Frame_Shift_Del_p.E381fs	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	381					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TCGCACTGCTCCCCACGCTCC	0.682													2	4	---	---	---	---					
MLL	4297	broad.mit.edu	37	11	118343036	118343037	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:118343036_118343037insA	uc001pta.3	+	2	1185_1186	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	MLL_uc001ptb.3_Frame_Shift_Ins_p.E388fs|MLL_uc001psz.1_Frame_Shift_Ins_p.E421fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	388					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AAAGAAAATTGAAAAAGAAGCA	0.431			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""								13	81	---	---	---	---					
IGH	0	broad.mit.edu	37	16	33647494	33647495	+	RNA	INS	-	-	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:33647494_33647495insC	uc010vga.2	-	0		c.48_49insG								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		AGTCTCAGGGACCCCCCAGGCT	0.564													44	68	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43523734	43523734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr22:43523734delG	uc003bdk.3	+	2	256	c.193delG	c.(193-195)gggfs	p.G65fs		NM_001197	NP_001188	Q13323	BIK_HUMAN	Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA.	65					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGCCTGCATCGGGGACGAGAT	0.677													2	4	---	---	---	---					
