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
CCDC43	124808	broad.mit.edu	37	17	42757964	42757964	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:42757964C>T	ENST00000315286.8	-	4	484	c.476G>A	c.(475-477)gGt>gAt	p.G159D	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	159										lung(2)	2		Prostate(33;0.0322)				TTTGTCAGAACCAATGTTCAT	0.433000													6	519					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40293931	40293931	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:40293931C>A	ENST00000416691.1	+	15	1651	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	COG6_ENST00000455146.3_Missense_Mutation_p.F517L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	517					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTGAATTCACTGACAGAC	0.348000													55	388					1.67886e-27	1.85194e-27	1	1	0
KIF27	55582	broad.mit.edu	37	9	86498835	86498835	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:86498835T>A	ENST00000297814.2	-	10	2481	c.2338A>T	c.(2338-2340)Aag>Tag	p.K780*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	780					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAGCTGCTTTTGTGTTTCA	0.388000													26	535					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150516	2150516	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:2150516C>T	ENST00000262304.4	-	27	9657	c.9449G>A	c.(9448-9450)gGc>gAc	p.G3150D	PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3150	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCCGGTGGCCGCTCCGGCT	0.672000													4	119					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4436651	4436651	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4436651C>T	ENST00000329078.3	+	8	1412	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	401					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGTGTGTGCCGTGGGCATG	0.642000													4	181					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42860499	42860499	+	Missense_Mutation	SNP	C	C	T	rs142361779	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:42860499C>T	ENST00000334370.4	+	25	4950	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1506C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1506	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACTGCCAGCCGCTTCCTGCA	0.652000													15	84					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294634	184294634	+	Silent	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:184294634G>T	ENST00000330394.2	+	5	1469	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	339						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCACAGCCGTGCCATCTCCAC	0.587000													27	174					7.38237e-10	7.89913e-10	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								7	724					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77684144	77684144	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:77684144G>A	ENST00000461745.1	+	24	4784	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1295					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGAGGGCGGATGGACCAA	0.517000													38	137					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537593	1537593	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:1537593G>A	ENST00000447419.2	-	2	545	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.R169W			Q96A99	PTX4_HUMAN	pentraxin 4, long	174						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACGGGCAGCCGCCCCTCCAGA	0.721000													8	41					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													5	400					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57157386	57157386	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57157386G>A	ENST00000535318.2	+	11	1288		c.e11+1		CPNE2_ENST00000537605.1_Splice_Site|CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000565874.1_Splice_Site			Q96FN4	CPNE2_HUMAN	copine II											central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATGTTCACCGTAAGGCTCTC	0.577000													5	285					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512000													59	286					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195509717	195509717	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:195509717G>T	ENST00000463781.3	-	2	9193	c.8734C>A	c.(8734-8736)Cct>Act	p.P2912T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	662					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGCGTGGTGTCA	0.587000													3	10					3.59834e-05	3.73808e-05	1	1	0
LEPREL2	10536	broad.mit.edu	37	12	6940383	6940383	+	RNA	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:6940383G>A	ENST00000251761.8	+	0	1022				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TCTCCAGTGGGCAATCTGTCC	0.567000													5	457					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40075258	40075258	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:40075258C>T	ENST00000336649.4	+	35	5220	c.5220C>T	c.(5218-5220)gaC>gaT	p.D1740D	CACNA1I_ENST00000407673.1_Silent_p.D1699D|CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000402142.3_Silent_p.D1734D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000400164.3_Silent_p.D1699D			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1734					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCACCTGGACGACAGCAACA	0.642000													9	39					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25260900	25260900	+	Missense_Mutation	SNP	C	C	T	rs116094067	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:25260900C>T	ENST00000354454.3	+	21	2235	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	525					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTGTGGATGCCGCTCCCACA	0.498000													6	471					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57074566	57074566	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57074566G>A	ENST00000436936.1	+	17	3100	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	NLRC5_ENST00000262510.6_Missense_Mutation_p.A959T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A959T|NLRC5_ENST00000539144.1_Missense_Mutation_p.A959T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	959					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCAGGGCTGCATTTCTTGA	0.587000													5	239					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139613	44139613	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:44139613C>T	ENST00000395797.1	-	3	895	c.707G>A	c.(706-708)gGc>gAc	p.G236D	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GTGGATTTTGCCATGCAGAAT	0.532000													4	222					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976333	38976333	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:38976333G>A	ENST00000355481.4	+	34	5169	c.5038G>A	c.(5038-5040)Gtg>Atg	p.V1680M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1680M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1680	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAACAATCGCGTGGCGCACGC	0.672000													58	247					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GTTGTTTATGCCGTATCCAAG	0.328000													5	479					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12284920	12284920	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:12284920G>A	ENST00000261349.4	-	18	3881	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1269	LDL-receptor class A 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCATCGCACCGCCAAGCCACA	0.483000													5	251					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523645	176523645	+	Missense_Mutation	SNP	G	G	A	rs67419797		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr5:176523645G>A	ENST00000292408.4	+	16	2301	c.2056G>A	c.(2056-2058)Ggg>Agg	p.G686R	FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R|FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	686	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	CTTCACCCTCGGGGGCTCCCC	0.667000										TSP Lung(9;0.080)			5	450					0	0	1	0	0
MLK4	0	broad.mit.edu	37	1	233515284	233515284	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:233515284A>G	ENST00000366624.3	+	9	2793	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	MLK4_ENST00000366622.1_Silent_p.G290G	NM_032435.2	NP_115811.2																					CTGCCCCAGGAAGTGGTCGTG	0.522000													36	309					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008205	39008205	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:39008205G>A	ENST00000355481.4	+	66	10023	c.9892G>A	c.(9892-9894)Gcc>Acc	p.A3298T	RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000359596.3_Missense_Mutation_p.A3298T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3298					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCCTGCCCGCCGGCGCCCC	0.642000													4	127					0	0	1	0	0
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438000													7	461					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9622	9622	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrM:9622C>T	ENST00000362079.2	+	1	416	c.416C>T	c.(415-417)gCa>gTa	p.139_139insV						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CGTATTACTCGCATCAGGAGT	0.478000													4	7					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917793	29917793	+	Missense_Mutation	SNP	C	C	T	rs149145987		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:29917793C>T	ENST00000389048.3	-	3	1781	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGAGGGGATGCGGCGCCAGGA	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	372					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	121					4.68919e-08	4.91905e-08	1	1	0
DST	667	broad.mit.edu	37	6	56469950	56469950	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469950G>A	ENST00000370754.5	-	39	9376	c.9377C>T	c.(9376-9378)tCg>tTg	p.S3126L	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2622L|DST_ENST00000312431.6_Missense_Mutation_p.S2948L|DST_ENST00000361203.3_Missense_Mutation_p.S2948L|DST_ENST00000370769.4_Missense_Mutation_p.S2948L			Q03001	DYST_HUMAN	dystonin	2948					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTCCCACGATGTAATGTC	0.333000													20	137					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	502					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443000													82	497					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101723150	101723150	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:101723150G>A	ENST00000261637.4	+	27	3514	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1114					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.A1114T(2)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCTGATCAGCGCATACCTGCC	0.403000													7	423					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439661	4439661	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4439661G>A	ENST00000329078.3	+	11	1757	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	516					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTCCTGGGCGGCATGTTCTTC	0.667000													7	335					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:43625113C>T	ENST00000360835.3	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	350	EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677000											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	107					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:114270018G>A	ENST00000393500.3	+	11	1150	c.330G>A	c.(328-330)caG>caA	p.Q110Q	FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													5	328					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32867854	32867854	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:32867854C>T	ENST00000357033.4	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DMD_ENST00000288447.4_Silent_p.G51G|DMD_ENST00000378677.2_Silent_p.G55G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	59	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGTTTTTGCCCTGTCAGGC	0.383000													4	158					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31799625	31799625	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:31799625T>C	ENST00000446923.2	+	5	849	c.458T>C	c.(457-459)tTa>tCa	p.L153S	ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S|ZEB1_ENST00000320985.10_Missense_Mutation_p.L169S|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	169					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTTTCACAATTACTCACCTGT	0.318000													56	228					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170811703	170811703	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:170811703C>T	ENST00000436636.2	-	23	2990	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000341852.6_Silent_p.T798T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000475336.1_Silent_p.T790T|TNIK_ENST00000284483.8_Silent_p.T874T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	882	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAGCCCATGCGTCCCCACCA	0.468000													4	181					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:21205194A>G	ENST00000382778.4	+	17	2484	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000319980.6_Missense_Mutation_p.R456G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000461115.1_3'UTR			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	456					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.R456G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGGACAGTAGAGTGAAAAG	0.338000													83	488					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718233	58718233	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:58718233G>T	ENST00000326804.4	+	5	862	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	135					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATATGCTGAAGATGGAAGCCT	0.597000													22	91					5.35356e-11	5.78617e-11	1	1	0
SNX27	81609	broad.mit.edu	37	1	151611414	151611414	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:151611414T>C	ENST00000368843.3	+	2	482	c.362T>C	c.(361-363)aTt>aCt	p.I121T	SNX27_ENST00000458013.2_Missense_Mutation_p.I121T|SNX27_ENST00000368838.1_Missense_Mutation_p.I28T	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	121	PDZ.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGACCTGATTCGAGCAGGC	0.483000													34	279					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57898028	57898028	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:57898028C>T	ENST00000262027.5	+	11	1448	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.C204C	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	438					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAAAGTCTGCCGATCATGCC	0.557000													6	456					0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72611989	72611989	+	Translation_Start_Site	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:72611989G>A	ENST00000539635.1	-	0	139				RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000287202.5_Missense_Mutation_p.T76M			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6						mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTCAGCACCGTCAGCTCGTA	0.672000													3	30					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600891	232600891	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:232600891C>G	ENST00000366630.1	-	8	2873	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517000													9	640					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142151540	142151540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:142151540G>A	ENST00000264951.4	-	2	388	c.271C>T	c.(271-273)Cga>Tga	p.R91*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.R91*(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTTTGCTCGAGGAGCCACA	0.338000													17	134					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909811	32909811	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:32909811G>T	ENST00000304056.4	-	4	1717	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	340										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCAGTCTGAAGTTTGCTTGTT	0.403000													102	584					3.59399e-54	4.04796e-54	1	1	0
ANK3	288	broad.mit.edu	37	10	61831534	61831534	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:61831534G>A	ENST00000280772.1	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3035					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGAGGTGGGCATAAACCTA	0.418000													6	553					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	388					0.00116845	0.00120215	1	1	0
PRR12	57479	broad.mit.edu	37	19	50101153	50101153	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:50101153C>T	ENST00000418929.2	+	4	3573	c.3561C>T	c.(3559-3561)ccC>ccT	p.P1187P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	366							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGCGGGGCCCGCCTCGGCCT	0.766000													3	13					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724864	138724864	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:138724864G>A	ENST00000383163.2	-	1	246	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	83										endometrium(3)|kidney(1)|lung(7)	11						GACGTTGGCGGGAGCTCCAGC	0.672000													4	59					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567000													7	788					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764871	184764871	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:184764871A>T	ENST00000367511.3	-	14	2220	c.2027T>A	c.(2026-2028)cTc>cAc	p.L676H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTGCCCGGGAGTCCTGCTGT	0.582000													31	233					0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86602198	86602198	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419	Ala/Pro-rich.|Poly-Ala.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756000									Late-onset Hereditary Lymphedema				9	52					0	0	1	0	0
MRC1L1	0	broad.mit.edu	37	10	17949641	17949641	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:17949641A>G	ENST00000331429.2	+	28	4108	c.4005A>G	c.(4003-4005)ttA>ttG	p.L1335L																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTAGCTTTACATGCGTCTT	0.423000													108	532					0	0	1	0	0
UGT1A7	0	broad.mit.edu	37	2	234590864	234590864	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:234590864C>T	ENST00000373426.3	+	1	281	c.281C>T	c.(280-282)gCc>gTc	p.A94V	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGGTTTTTGCCGATGCTCGC	0.438000													7	669					0	0	1	0	0
FAM66D	0	broad.mit.edu	37	8	11985701	11985701	+	RNA	SNP	A	A	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:11985701A>C	ENST00000434078.2	+	0	608					NR_027425.1																						GTAAAAGAGGACATAGGCCTG	0.458000													21	54					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215436	84215436	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:84215436G>A	ENST00000567759.1	-	8	1132	c.950C>T	c.(949-951)gCc>gTc	p.A317V	TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000541676.1_Missense_Mutation_p.A224V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A224V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A317V|TAF1C_ENST00000566732.1_Missense_Mutation_p.A291V	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	317					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTTCCACACGGCACAGTGGTA	0.597000													5	339					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110909769	110909769	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:110909769G>A	ENST00000265171.5	+	18	3083	c.2638G>A	c.(2638-2640)Gtg>Atg	p.V880M	EGF_ENST00000503392.1_Missense_Mutation_p.V880M|EGF_ENST00000509793.1_Missense_Mutation_p.V838M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	880	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGGTGTCCCAGTGTGCCCCCC	0.463000													132	566					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532244	92532244	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:92532244C>A	ENST00000298047.6	+	9	6082	c.6065C>A	c.(6064-6066)cCa>cAa	p.P2022Q	FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q|FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2022	Cadherin 18.				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)				ATCTTAAACCCAGGAAATAAG	0.408000										TCGA Ovarian(4;0.039)			5	316					0.014758	0.014758	1	1	0
FAIM3	9214	broad.mit.edu	37	1	207087157	207087157	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:207087157C>T	ENST00000367091.3	-	2	463	c.320G>A	c.(319-321)gGc>gAc	p.G107D	FAIM3_ENST00000420007.2_Missense_Mutation_p.G107D|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	107					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGTGTTCATGCCCGCTCCGCA	0.527000													6	608					0	0	1	0	0
RPL7A	6130	broad.mit.edu	37	9	136218131	136218131	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:136218131G>T	ENST00000323345.6	+	8	741	c.711G>T	c.(709-711)tgG>tgT	p.W237C	RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	237					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GCCGTCACTGGGGTGGCAATG	0.453000													4	174					0.00909568	0.00926893	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													7	497					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22550452	22550452	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:22550452G>A	ENST00000317216.2	-	1	363	c.6C>T	c.(4-6)acC>acT	p.T2T	EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	2					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGTTTGCCGGTCATAGCAC	0.657000													4	126					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186086639	186086639	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:186086639A>T	ENST00000271588.4	+	77	11961	c.11732A>T	c.(11731-11733)cAt>cTt	p.H3911L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3911	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAACCAAACATGCCCCAGCA	0.438000													5	606					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185339858	185339858	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:185339858C>A	ENST00000393593.3	-	4	399	c.192G>T	c.(190-192)aaG>aaT	p.K64N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	64					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CTGGTTGATGCTTTCCTAACA	0.378000													26	101					1.85244e-09	1.96249e-09	1	1	0
GJA5	2702	broad.mit.edu	37	1	147230999	147230999	+	Missense_Mutation	SNP	C	C	G	rs150168016		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147230999C>G	ENST00000271348.2	-	2	509	c.348G>C	c.(346-348)gaG>gaC	p.E116D	GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	116					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCCCGGACCTCTTTGGCCC	0.622000													114	297					0	0	1	0	0
LILRB5	0	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													5	143					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16958063	16958063	+	RNA	SNP	C	C	T	rs2779441	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:16958063C>T	ENST00000412962.1	-	0	74																											AGCCCCTCTCCATCCTCTGTC	0.652000													4	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469951	56469951	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469951A>T	ENST00000370754.5	-	39	9375	c.9376T>A	c.(9376-9378)Tcg>Acg	p.S3126T	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S2622T|DST_ENST00000312431.6_Missense_Mutation_p.S2948T|DST_ENST00000361203.3_Missense_Mutation_p.S2948T|DST_ENST00000370769.4_Missense_Mutation_p.S2948T			Q03001	DYST_HUMAN	dystonin	2948					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTCCCACGATGTAATGTCT	0.333000													21	134					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330227	51330227	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:51330227G>A	ENST00000326856.4	-	4	514	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	KLK15_ENST00000596931.1_Missense_Mutation_p.R129C|KLK15_ENST00000598239.1_Missense_Mutation_p.R130C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R130C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGGGGGCAACGCGTGGGTAGC	0.711000													45	198					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	240					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117593645	117593645	+	Silent	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:117593645C>G	ENST00000326274.5	+	4	1132	c.942C>G	c.(940-942)tcC>tcG	p.S314S	VGLL2_ENST00000352536.3_Silent_p.S140S	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	314					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GTGGTGCATCCCTCCTGAGCT	0.542000													156	1003					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318480	40318480	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:40318480C>A	ENST00000264661.3	-	10	2007	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	559					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCTCGCTGCCCCGAACAAC	0.622000													78	166					8.16569e-41	9.10134e-41	1	1	0
ANK1	286	broad.mit.edu	37	8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:41573238G>A	ENST00000396942.1	-	14	1617	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C|ANK1_ENST00000347528.4_Missense_Mutation_p.R512C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	512	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCCTCACGGGCTGCAATG	0.607000													35	283					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1558985	1558985	+	Splice_Site	SNP	G	G	A	rs140632398	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:1558985G>A	ENST00000381605.4	-	2	496	c.433_splice	c.e2+1	p.R144_splice	SIRPB1_ENST00000262929.5_Splice_Site_p.R143_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144_splice|SIRPB1_ENST00000381603.3_Splice_Site_p.R144_splice	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTACTCACCGCGCACAGACA	0.552000													7	511					0	0	1	0	0
C12orf63	0	broad.mit.edu	37	12	97102439	97102439	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:97102439C>T	ENST00000524981.3	+	15	1935	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G				Q6ZTY8	CL063_HUMAN		619										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTACAATTGGCCAACCACATC	0.308000													5	411					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627000													8	1039					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325907	158325907	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:158325907C>T	ENST00000434258.1	+	4	921	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGAAACAGCTGAGGCTCTG	0.542000													28	215					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232753	35232753	+	Silent	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:35232753T>C	ENST00000392232.3	+	6	1767	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	ZNF181_ENST00000459757.1_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388000													7	285					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148984847	148984847	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:148984847G>T	ENST00000418158.2	+	2	378	c.216G>T	c.(214-216)tgG>tgT	p.W72C	RP4-800G7.2_ENST00000416232.1_RNA|ZNF783_ENST00000489518.1_3'UTR			C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	459					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGTGGCTGTGGAGTTCGGGAA	0.627000													33	182					1.61788e-16	1.76646e-16	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214557519	214557519	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:214557519T>G	ENST00000366956.5	-	13	1873	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	560					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGATAGTTCTTAAGCATGTG	0.652000													6	396					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51064677	51064677	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:51064677C>T	ENST00000547307.1	-	5	1283	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ARSA_ENST00000453344.2_Missense_Mutation_p.G209D|ARSA_ENST00000356098.5_Missense_Mutation_p.G295D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000395621.3_Missense_Mutation_p.G295D			P15289	ARSA_HUMAN	arylsulfatase A	293			G -> D (in MLD; late-onset).|G -> S (in MLD; adult type; causes a severe reduction of enzyme activity).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	ACCGGAGCAGCCGCCTCGGGA	0.652000													3	51					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980827	121980827	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:121980827C>T	ENST00000498619.1	+	4	1383	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CASR_ENST00000296154.5_Silent_p.G315G|CASR_ENST00000490131.1_Silent_p.G315G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	315					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACGTGGTTGGCGGCACCATTG	0.587000													4	257					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3629075	3629075	+	Nonsense_Mutation	SNP	C	C	T	rs143259437	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:3629075C>T	ENST00000325418.4	+	1	1865	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	616	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGAGCAAATGCGAACCAAGTT	0.493000													63	423					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	315	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408000													7	429					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgc>tg	p.CL132del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	132					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													8	223	---	---	---	---					
RP5-1198O20.4	0	broad.mit.edu	37	1	44570056	44570058	+	RNA	DEL	CTG	CTG	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:44570056_44570058delCTG	ENST00000434244.1	+	0	2053_2055																											TCCCAGCCGTCTGCTGCTGCTGC	0.576													8	350	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													8	22	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gafs	p.E602fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577													9	387	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								7	650	---	---	---	---					
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)acfs	p.N201fs	RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000461050.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413													8	2041	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)cta>ct	p.LL21del		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	21					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													9	660	---	---	---	---					
LOXL3	84695	broad.mit.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)gccfs	p.A275fs	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649													8	364	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													8	351	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													14	70	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195404592	195404592	+	RNA	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:195404592delT	ENST00000445430.1	+	0	1454																											TTTGTTGTTGTTTTAGGAGAT	0.348													34	167	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-	rs71180116		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)del	p.Q38del		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704													3	6	---	---	---	---					
RP1-290I10.7	0	broad.mit.edu	37	6	10443752	10443753	+	RNA	INS	-	-	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:10443752_10443753insA	ENST00000366312.2	+	0	76																											tgatgaattccaaaaatgttgt	0.401													2	4	---	---	---	---					
TDP2	51567	broad.mit.edu	37	6	24654677	24654682	+	In_Frame_Del	DEL	GGAAAA	GGAAAA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:24654677_24654682delGGAAAA	ENST00000341060.3	-	4	815_820	c.420_425delTTTTCC	c.(418-426)cca>cc	p.PFP140del	TDP2_ENST00000545995.1_In_Frame_Del_p.PFP228del|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000378198.4_In_Frame_Del_p.PFP198del			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	198					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTTGGTACTTGGAAAAGGAATAATCT	0.272								Direct reversal of damage					33	289	---	---	---	---					
KHDRBS2	202559	broad.mit.edu	37	6	62687982	62687983	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:62687982_62687983insT	ENST00000281156.4	-	4	749_750	c.471_472insA	c.(469-474)aatcctfs	p.NP157fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGAACCAGGAATTTTTTAATCT	0.351													65	374	---	---	---	---					
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)ggfs	p.R77fs	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338													9	683	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)aatfs	p.N339fs	ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													7	192	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													7	5	---	---	---	---					
IMPA1P	0	broad.mit.edu	37	8	82539414	82539414	+	RNA	DEL	A	A	-	rs67922843		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:82539414delA	ENST00000522318.1	-	0	127																											AGAAATATACAAAAAAAAAAT	0.313													3	4	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								7	914	---	---	---	---					
PCSK5	5125	broad.mit.edu	37	9	78973707	78973709	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:78973707_78973709delGAT	ENST00000545128.1	+	37	5990_5992	c.5452_5454delGAT	c.(5452-5454)del	p.D1822del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	639					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTATGATGAGGATGATGATGATG	0.468													7	830	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:52569667_52569669delAGC	ENST00000395489.2	-	14	1993_1995	c.1597_1599delGCT	c.(1597-1599)del	p.A533del	A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													12	351	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:60703785_60703787delGGA	ENST00000005286.4	+	11	2634_2636	c.2481_2483delGGA	c.(2479-2484)agg>ag	p.RE827del	TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	826	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635													7	394	---	---	---	---					
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													9	889	---	---	---	---					
RP11-283I3.6	0	broad.mit.edu	37	12	385899	385900	+	RNA	DEL	AA	AA	-	rs77529822		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:385899_385900delAA	ENST00000570140.1	-	0	389_390																											AGTTCCAGGGAAAAAAAAAAAA	0.480													4	6	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													11	1574	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40716292	40716294	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:40716292_40716294delTGA	ENST00000298910.7	+	37	5547_5549	c.5489_5491delTGA	c.(5488-5493)ttg>t	p.LM1830del		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1830					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTGATGACTTGATGAAGAAAGC	0.300													54	356	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25319304	25319304	+	RNA	DEL	G	G	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:25319304delG	ENST00000549804.2	+	0	977				SNORD116-10_ENST00000363791.1_RNA																							TTTTTTTTTTGGAAAGGTGAA	0.393													8	445	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25337049	25337050	+	RNA	DEL	GA	GA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:25337049_25337050delGA	ENST00000546682.1	+	0	969				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ACTGGAGCTGGAGAGAGAGAGA	0.500													9	942	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304																											GCAGggtgacggtggtggtggtg	0.483													10	125	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478													10	4221	---	---	---	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:62291438_62291440delTCC	ENST00000258991.3	-	2	222_224	c.138_140delGGA	c.(136-141)gaa>ga	p.EE50del	TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del			Q8IWB9	TEX2_HUMAN	testis expressed 2	50	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													8	500	---	---	---	---					
NEDD4L	0	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr18:55992284_55992286delTCC	ENST00000456986.1	+	9	807_809	c.207_209delTCC	c.(205-210)ctt>ct	p.LP69del	NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	190	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													10	755	---	---	---	---					
ZNF45	7596	broad.mit.edu	37	19	44417694	44417695	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:44417694_44417695delTT	ENST00000269973.5	-	10	2983_2984	c.1893_1894delAA	c.(1891-1896)cagafs	p.QR631fs	ZNF45_ENST00000589703.1_Frame_Shift_Del_p.QR631fs|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	631					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GTGTGAACTCTTTGATGGGCTT	0.485													112	559	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACTGAGATGTAAGTTGTTGG	0.446													7	1349	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			7	400	---	---	---	---