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
ZAP70	7535	broad.mit.edu	37	2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682000													5	206					0	0	0.217242	0	0
AJ271736.10	0	broad.mit.edu	37	X	155254749	155254749	+	RNA	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:155254749G>A	ENST00000285718.7	+	0	1194				WASH6P_ENST00000461007.1_RNA																							TCAACAAGCTGGTCATGAGGC	0.572000													4	17					0	0	0.248553	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	258					0	0	0.217242	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:88913315T>C	ENST00000303236.3	-	2	666	c.365A>G	c.(364-366)aAt>aGt	p.N122S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	122					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTACCATGATTTTCAGGATC	0.358000													94	128					0	0	0.870114	0	0
ZFP37	7539	broad.mit.edu	37	9	115805120	115805120	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:115805120C>A	ENST00000374227.3	-	4	1805	c.1778G>T	c.(1777-1779)cGa>cTa	p.R593L	ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L|ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTGTGGGATCGCTGATGTAT	0.368000													4	150					0.150653	0.154467	0.150653	1	0
CATSPERG	57828	broad.mit.edu	37	19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:38852407T>G	ENST00000409235.3	+	17	2115	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	667					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCGCCGCGCGTCCTGGAGCGC	0.667000													5	24					0	0	0.184627	0	0
PC	5091	broad.mit.edu	37	11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:66616483C>A	ENST00000393960.1	-	23	3705	c.3424G>T	c.(3424-3426)Gcc>Tcc	p.A1142S	PC_ENST00000393958.2_Missense_Mutation_p.A1142S|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.A262S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1142	Biotinyl-binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCTTCATGGCACTGAGCACA	0.592000													5	211					0.014758	0.0153256	0.184627	1	0
DSE	29940	broad.mit.edu	37	6	116757925	116757925	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:116757925G>A	ENST00000331677.3	+	7	2738	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	DSE_ENST00000452085.3_Missense_Mutation_p.R765Q|DSE_ENST00000537543.1_Missense_Mutation_p.R784Q|DSE_ENST00000359564.2_Missense_Mutation_p.R765Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	765					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCCGAGTCCGGAACACAGCT	0.478000													7	173					0	0	0.307466	0	0
ABCC5	10057	broad.mit.edu	37	3	183667864	183667864	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:183667864G>A	ENST00000334444.6	-	21	3234	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	ABCC5_ENST00000265586.6_Silent_p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	998	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGAACACCAGGATAACGTTCT	0.507000													22	51					0	0	0.654019	0	0
CLDN2	9075	broad.mit.edu	37	X	106171821	106171821	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:106171821T>G	ENST00000541806.1	+	2	882	c.363T>G	c.(361-363)ggT>ggG	p.G121G	CLDN2_ENST00000336803.1_Silent_p.G121G|CLDN2_ENST00000540876.1_Silent_p.G121G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	121					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CGGTAGCAGGTGGAGTCTTTT	0.542000													4	72					0	0	0.624587	0	0
SPINK4	27290	broad.mit.edu	37	9	33246623	33246623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:33246623G>A	ENST00000379725.1	+	4	303	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379721.3_Missense_Mutation_p.E38K			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	38	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GCCCATCTGTGAACACATGGT	0.577000													6	139					0	0	0.248553	0	0
TTN	7273	broad.mit.edu	37	2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:179592350A>G	ENST00000589042.1	-	68	20179	c.19955T>C	c.(19954-19956)gTt>gCt	p.V6652A	TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6335	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGCTACCAACATCATTGGT	0.408000													180	296					0	0	0.870114	0	0
SOX13	9580	broad.mit.edu	37	1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:204082093G>A	ENST00000367204.1	+	2	159	c.50G>A	c.(49-51)gGc>gAc	p.G17D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	17					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGCGTTGGCACCATGGTG	0.612000													4	88					0	0	0.150653	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													5	232					0	0	0.217242	0	0
PROP1	5626	broad.mit.edu	37	5	177419761	177419761	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:177419761T>G	ENST00000308304.2	-	3	938	c.630A>C	c.(628-630)ccA>ccC	p.P210P		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	210					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGGGAGGGGGTGGGGGGCAGG	0.637000													5	15					0	0	0.479597	0	0
ADCY3	109	broad.mit.edu	37	2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	934					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGTAGAAGTCAGCAAAGTTG	0.473000													4	103					0	0	0.150653	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	101					0	0	0.150653	0	0
IFT140	9742	broad.mit.edu	37	16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:1576790C>A	ENST00000426508.2	-	20	2770	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	IFT140_ENST00000361339.5_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	803										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCCAGACGGCCTCACTG	0.692000													3	46					0.000602214	0.000641834	0.184627	1	0
HLA-DRB6	0	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs117454723	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1																						AACAGCCCTGTCCCAAGGAAG	0.507000													3	49					0	0	0.150653	0	0
PI4KB	5298	broad.mit.edu	37	1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:151278805C>A	ENST00000368875.2	-	6	1833	c.1253G>T	c.(1252-1254)tGt>tTt	p.C418F	PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	406					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGTTTTCACATTCAAGGAC	0.493000													4	93					0.00024832	0.000268186	0.150653	1	0
DNAH17	8632	broad.mit.edu	37	17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:76563191C>T	ENST00000389840.5	-	10	1466	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCACGCACGCCCCCAAGC	0.488000													15	13					0	0	0.479597	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498712	6498712	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:6498712C>A	ENST00000263125.5	-	15	1670	c.1571G>T	c.(1570-1572)gGa>gTa	p.G524V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	524	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTGCACATTCCAAAATCCGC	0.443000													34	59					4.65686e-17	5.38866e-17	0.788014	1	0
PTPRG	5793	broad.mit.edu	37	3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:62142813A>G	ENST00000474889.1	+	7	1132	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	252	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATTATCGGTACACAGGTTCC	0.512000													7	162					0	0	0.248553	0	0
GGNBP2	79893	broad.mit.edu	37	17	34912923	34912923	+	Splice_Site	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:34912923C>T	ENST00000304718.4	+	4	491	c.174_splice	c.e4-1	p.R59_splice		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	59					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCTCTTTCAGCGACATGGTAT	0.423000													6	179					0	0	0.217242	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340029	42340029	+	Silent	SNP	G	G	A	rs56387601		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:42340029G>A	ENST00000262418.6	-	3	236	c.81C>T	c.(79-81)ccC>ccT	p.P27P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	27			P -> H (in dbSNP:rs55777403).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597000													11	27					0	0	0.387290	0	0
RECQL4	9401	broad.mit.edu	37	8	145741718	145741718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145741718C>T	ENST00000428558.2	-	5	826	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	262					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTCCATCTCCGCTTCTCGCC	0.672000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	85					0	0	0.307466	0	0
ABCC9	10060	broad.mit.edu	37	12	22065906	22065906	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:22065906C>T	ENST00000261200.4	-	6	910	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ABCC9_ENST00000261201.4_Missense_Mutation_p.R304H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	304	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCCAGATAGCGGAATGTGCT	0.423000													47	91					0	0	0.870114	0	0
ALG1L2	0	broad.mit.edu	37	3	129817144	129817144	+	RNA	SNP	G	G	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:129817144G>T	ENST00000507643.1	+	0	726							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										TGCGGGAGTCGCAGCAGCTCT	0.527000													4	98					5.18039e-06	5.67043e-06	0.278610	1	0
FAT3	120114	broad.mit.edu	37	11	92086739	92086739	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	487	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCCCAGTGGGAACCAGCG	0.418000										TCGA Ovarian(4;0.039)			19	43					0	0	0.557998	0	0
HIF3A	64344	broad.mit.edu	37	19	46825111	46825111	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:46825111G>A	ENST00000339613.2	+	10	1310	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000377670.4_Missense_Mutation_p.R408H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GACCCCCGCCGTTTCTGCAGC	0.692000													18	99					0	0	0.681144	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306052	2306052	+	Missense_Mutation	SNP	G	G	A	rs117669252	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:2306052G>A	ENST00000290974.2	-	8	2354	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	672			S -> P (in dbSNP:rs661301).		negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.S672L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGTGAGCCGAGGGGCTCCC	0.667000													125	100					0	0	0.870114	0	0
PCDHGC5	0	broad.mit.edu	37	5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		232	Cadherin 2.				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)			CTCTGTCATCGTGCTGGACAT	0.557000													102	154					0	0	0.870114	0	0
KIAA0753	9851	broad.mit.edu	37	17	6503779	6503779	+	Splice_Site	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753							centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCAGAAACACTATTTAGAAA	0.383000													46	90					0	0	0.870114	0	0
KLHL4	0	broad.mit.edu	37	X	86887270	86887270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:86887270T>C	ENST00000373119.4	+	7	1530	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGCACCATGAATGGCCGT	0.393000													3	43					0	0	0.115264	0	0
HNF1A	6927	broad.mit.edu	37	12	121435350	121435350	+	Silent	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:121435350C>T	ENST00000257555.6	+	7	1609	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000541395.1_Silent_p.P461P|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Silent_p.P461P			P20823	HNF1A_HUMAN	HNF1 homeobox A	461					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGCAGCCCGTCCAGTTCT	0.652000									Hepatic Adenoma, Familial Clustering of				27	43					0	0	0.693898	0	0
TPM4	7171	broad.mit.edu	37	19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:16204531C>G	ENST00000300933.4	+	7	892	c.632C>G	c.(631-633)gCa>gGa	p.A211G	TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	211					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGAACGGTTGCAAAACTGGAA	0.483000			T	ALK	ALCL								5	196					0	0	0.217242	0	0
CDC14B	8555	broad.mit.edu	37	9	99285902	99285902	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99285902G>A	ENST00000375241.1	-	10	1503	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	351	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCCAATCACCGAGCCAGGTCT	0.537000													13	136					0	0	0.457914	0	0
ALG1L2	0	broad.mit.edu	37	3	129817138	129817138	+	RNA	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:129817138G>A	ENST00000507643.1	+	0	720							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										AGAACCTGCGGGAGTCGCAGC	0.522000													4	105					0	0	0.217242	0	0
FBN3	84467	broad.mit.edu	37	19	8191671	8191671	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:8191671C>T	ENST00000600128.1	-	19	2756	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q			Q75N90	FBN3_HUMAN	fibrillin 3	781	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAGGTTCCGACAGACGCC	0.662000													4	110					0	0	0.150653	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	116					0	0	0.184627	0	0
SV2C	22987	broad.mit.edu	37	5	75490817	75490817	+	Silent	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:75490817A>G	ENST00000502798.2	+	3	1096	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SV2C_ENST00000322285.7_Silent_p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	218					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGGAAGGAAACAGTCTCTTC	0.468000													149	249					0	0	0.870114	0	0
SOX7	83595	broad.mit.edu	37	8	10584117	10584117	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:10584117G>A	ENST00000304501.1	-	2	376	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	SOX7_ENST00000554914.1_Missense_Mutation_p.R152W|SOX7_ENST00000553390.1_Missense_Mutation_p.R152W	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	100					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGCGCAGCCGCTCCGCCTCG	0.647000													50	21					0	0	0.870114	0	0
SPATA31D5P	0	broad.mit.edu	37	9	84533451	84533451	+	RNA	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:84533451G>A	ENST00000527857.1	+	0	3473					NR_026851.1																						TCAGGGCAGTGGAAAGACCTT	0.478000													4	6					0	0	0.184627	0	0
CES4A	283848	broad.mit.edu	37	16	67037031	67037031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:67037031C>T	ENST00000540947.2	+	6	933	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	250						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGTGGCACCGCGTTATTCAGA	0.552000													64	37					0	0	0.870114	0	0
ITGA9	3680	broad.mit.edu	37	3	37512575	37512575	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:37512575G>A	ENST00000264741.5	+	2	519	c.263G>A	c.(262-264)cGt>cAt	p.R88H	ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	88					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTAAGTGCCGTGTTCACACC	0.532000													77	124					0	0	0.870114	0	0
BMS1	9790	broad.mit.edu	37	10	43288455	43288455	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:43288455G>A	ENST00000374518.4	+	8	1015	c.952G>A	c.(952-954)Gct>Act	p.A318T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	318					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGACCCTTGCGCTCTTCCTGA	0.498000													6	287					0	0	0.217242	0	0
HGS	9146	broad.mit.edu	37	17	79657219	79657219	+	Silent	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:79657219C>A	ENST00000329138.4	+	6	558	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	141	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGGGCACGTCTTTCCAGAAT	0.607000													14	146					1.3612e-06	1.53135e-06	0.479597	1	0
PCDHA9	0	broad.mit.edu	37	5	140229647	140229647	+	Silent	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140229647T>C	ENST00000378122.3	+	1	2291	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682000													7	365					0	0	0.387290	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121845	38121845	+	Silent	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr22:38121845C>T	ENST00000406386.3	+	7	3537	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1094					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCAGATGCCGAGCATCAGT	0.652000													6	279					0	0	0.248553	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													5	290					0	0	0.248553	0	0
GRB2	0	broad.mit.edu	37	17	73317762	73317762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:73317762C>T	ENST00000392562.1	-	5	1228	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	149	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTCTATGTCCCGCAGGAATAT	0.463000													8	96					0	0	0.278610	0	0
ZFAT	57623	broad.mit.edu	37	8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:135614479T>C	ENST00000520727.1	-	7	1746	c.1447A>G	c.(1447-1449)Aac>Gac	p.N483D	ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGCTCTGGTTGATGGAACTG	0.607000													4	118					0	0	0.150653	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877239	24877239	+	Silent	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:24877239C>T	ENST00000382554.3	+	3	681	c.363C>T	c.(361-363)ggC>ggT	p.G121G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	121					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGATGGTGGGCGGGCTGACTG	0.667000													5	127					0	0	0.248553	0	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:82784471A>G	ENST00000423517.2	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													12	359					0	0	0.624587	0	0
ALG1L2	0	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522000													4	112					0	0	0.248553	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	45					0	0	0.150653	0	0
MUC17	140453	broad.mit.edu	37	7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:100678305C>T	ENST00000306151.4	+	3	3672	c.3608C>T	c.(3607-3609)aCt>aTt	p.T1203I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1203	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCAACTGCTGAAGTT	0.517000													19	626					0	0	0.575678	0	0
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498000													7	981					0	0	0.184627	0	0
TOP1MT	116447	broad.mit.edu	37	8	144398199	144398199	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:144398199G>A	ENST00000523676.1	-	12	1539	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F|TOP1MT_ENST00000329245.4_Silent_p.F476F			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	476					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCGACTTCTCGAACGTACTGG	0.607000													7	380					0	0	0.278610	0	0
EFS	0	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	EFS_ENST00000429593.2_Silent_p.P172P|EFS_ENST00000351354.3_Silent_p.P248P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697000													12	63					0	0	0.608945	0	0
CPXM1	56265	broad.mit.edu	37	20	2774864	2774864	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr20:2774864A>G	ENST00000380605.2	-	14	2241	c.2177T>C	c.(2176-2178)cTg>cCg	p.L726P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	726					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TAGCCGCTCCAGGCGCCTGCG	0.627000													7	137					0	0	0.248553	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													6	109					0	0	0.361761	0	0
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652000													8	197					0	0	0.654019	0	0
AGFG1	3267	broad.mit.edu	37	2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:228388627G>A	ENST00000310078.7	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	176					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTAAATAAGGGCACACCTAG	0.433000													23	173					0	0	0.654019	0	0
EFS	0	broad.mit.edu	37	14	23828670	23828670	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828670T>G	ENST00000216733.3	-	4	1624	c.1017A>C	c.(1015-1017)ccA>ccC	p.P339P	EFS_ENST00000429593.2_Silent_p.P170P|EFS_ENST00000351354.3_Silent_p.P246P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	339	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGTGGGGGTGGGGGCAGAG	0.697000													11	60					0	0	0.557998	0	0
ENPP2	0	broad.mit.edu	37	8	120608106	120608106	+	Missense_Mutation	SNP	G	G	A	rs142695308		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:120608106G>A	ENST00000259486.6	-	12	1158	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000522826.1_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443000													19	540					0	0	0.639603	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013718	99013718	+	Silent	SNP	G	G	A	rs115684579	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99013718G>A	ENST00000375263.3	-	5	482	c.435C>T	c.(433-435)aaC>aaT	p.N145N	HSD17B3_ENST00000375262.2_Silent_p.N145N	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	145					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CATCCGGTGCGTTCAGGAAAT	0.478000													41	53					0	0	0.870114	0	0
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11	---	---	---	---					
RP11-325B23.2	0	broad.mit.edu	37	3	98031434	98031434	+	RNA	DEL	A	A	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333													9	46	---	---	---	---					
RP11-3P17.4	0	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													7	41	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-	rs7437875	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)aafs	p.E548fs	CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463													7	746	---	---	---	---					
RP11-423H2.1	0	broad.mit.edu	37	5	177310522	177310522	+	RNA	DEL	G	G	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:177310522delG	ENST00000506672.1	+	0	964					NR_003615.2																						ctctgtgcctgggggttctct	0.478													3	5	---	---	---	---					
HLA-F-AS1	0	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:29709414delA	ENST00000458236.1	-	0	349																											tagtttccccatttcatagat	0.458													4	8	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													21	46	---	---	---	---					
STEAP2-AS1	0	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs138239781	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA																							GGTGCGGGCCTCCCCCTTCCCC	0.639													4	6	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													7	850	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1267_splice	c.e12+1	p.L419_splice		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	419	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													3	5	---	---	---	---					
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)del	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF.		Missing (in FHL2).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				9	221	---	---	---	---					
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:90768708delT	ENST00000355740.2	+	4	617	c.397delT	c.(397-399)ttfs	p.F134fs	FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	134					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAAACCAAACTTTTTTTGTAA	0.368													7	831	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:62299465_62299466insA	ENST00000378024.4	-	5	2697_2698	c.2423_2424insT	c.(2422-2424)accfs	p.T808fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	808					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCAGGCATCTTAAACTT	0.460													16	429	---	---	---	---					
FBN1	2200	broad.mit.edu	37	15	48788406	48788407	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr15:48788406_48788407insA	ENST00000316623.5	-	20	2764_2765	c.2309_2310insT	c.(2308-2310)gctfs	p.A770fs		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	770	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTGTTCAGTACACATTCATT	0.351													76	101	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3647657	3647657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:3647657delG	ENST00000294008.3	-	7	2046	c.1406delC	c.(1405-1407)cafs	p.P469fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	469	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TAACAACAATGGGGGGGATAC	0.547								Direct reversal of damage					7	451	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													7	419	---	---	---	---					
RP11-19N8.2	0	broad.mit.edu	37	16	32989803	32989804	+	RNA	INS	-	-	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:32989803_32989804insT	ENST00000567619.1	-	0	499																											CTGAAGGATCATTTTTTTGGTG	0.475													11	56	---	---	---	---					
HIC1	3090	broad.mit.edu	37	17	1960405	1960407	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:1960405_1960407delGGC	ENST00000399849.2	+	2	581_583	c.421_423delGGC	c.(421-423)del	p.G148del	HIC1_ENST00000322941.3_In_Frame_Del_p.G167del	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	167					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCACCTGCGGggcggcggcggcg	0.764													6	8	---	---	---	---					
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:11618821delG	ENST00000270517.7	-	5	916	c.781delC	c.(781-783)agfs	p.Q261fs	ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582													7	266	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)caa>ca	p.QQ1030del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576													7	172	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	61	---	---	---	---					
