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
DPY19L3	147991	broad.mit.edu	37	19	32971419	32971419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:32971419C>T	ENST00000342179.5	+	18	2160	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	DPY19L3_ENST00000586987.1_Missense_Mutation_p.R649W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R649W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	649						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GAGGCACCGCCGGGGCTGCCG	0.632000													13	226					0	0	1.49906e-05	0	0
GSE1	23199	broad.mit.edu	37	16	85667700	85667700	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:85667700C>T	ENST00000253458.7	+	2	364	c.188C>T	c.(187-189)gCg>gTg	p.A63V	GSE1_ENST00000405402.2_Intron|GSE1_ENST00000393243.1_Intron	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		TTTGCCGCCGCGCTGCGCAAG	0.766000													4	56					0	0	2.56e-06	0	0
PEX3	8504	broad.mit.edu	37	6	143806383	143806383	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:143806383C>A	ENST00000367591.4	+	11	1099	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	346					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCATTTTGTTCAGGTAAGAAG	0.373000													10	433					6.40141e-05	0.00578816	6.40141e-05	1	0
DST	667	broad.mit.edu	37	6	56325048	56325048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:56325048G>A	ENST00000370754.5	-	101	22870	c.22871C>T	c.(22870-22872)aCg>aTg	p.T7624M	DST_ENST00000361203.3_Missense_Mutation_p.T7335M|DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T7446M|DST_ENST00000244364.6_Missense_Mutation_p.T5045M|DST_ENST00000446842.2_Missense_Mutation_p.T7120M			Q03001	DYST_HUMAN	dystonin	7444					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)			TTGTATTGGCGTTCCCTGTAT	0.443000													82	245					0	0	0.000147903	0	0
CPNE5	57699	broad.mit.edu	37	6	36710085	36710085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:36710085G>A	ENST00000244751.2	-	21	2366	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	CPNE5_ENST00000393189.2_Missense_Mutation_p.A289V|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	581										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCGTGCGGGCTGGGGACTG	0.682000													45	281					0	0	0.000147903	0	0
PWP1	11137	broad.mit.edu	37	12	108091262	108091262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:108091262G>A	ENST00000412830.3	+	7	800	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PWP1_ENST00000541166.1_Missense_Mutation_p.G149E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	211					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ATTGCTGTAGGAAACATGACC	0.348000													31	603					0	0	7.24521e-05	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782948	115782948	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:115782948C>T	ENST00000343348.6	-	19	3241	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	SEMA6A_ENST00000510263.1_Silent_p.L818L|SEMA6A_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000282394.6_Silent_p.L295L|SEMA6A_ENST00000513137.1_Silent_p.L245L|SEMA6A_ENST00000503865.1_Silent_p.L197L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	818	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCGTGATGGGCAGGACCACCA	0.662000													37	466					0	0	8.91981e-05	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458000													19	307					0	0	0.000132079	0	0
VWA8	23078	broad.mit.edu	37	13	42273281	42273281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:42273281C>T	ENST00000379310.3	-	29	3558	c.3490G>A	c.(3490-3492)Gtt>Att	p.V1164I		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGGTGCCAAACGCCATTGGCT	0.468000													13	535					0	0	0.00010058	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													19	172					0	0	5.49717e-05	0	0
PET112	5188	broad.mit.edu	37	4	152626389	152626389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:152626389C>A	ENST00000263985.6	-	7	950	c.910G>T	c.(910-912)Gag>Tag	p.E304*	PET112_ENST00000512306.1_Nonsense_Mutation_p.E304*|PET112_ENST00000515812.1_Nonsense_Mutation_p.E263*	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	304						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTCCATTCTCAAGTTCATTG	0.423000													5	304					1.23904e-05	0.0011545	1.23904e-05	1	0
TENM3	55714	broad.mit.edu	37	4	183714508	183714508	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:183714508G>A	ENST00000511685.1	+	26	6806	c.6683G>A	c.(6682-6684)cGt>cAt	p.R2228H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H					teneurin transmembrane protein 3									p.R2228H(1)									GTGATCTACCGTTATGACGGC	0.463000													18	247					0	0	9.7654e-05	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790821	194790821	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:194790821G>A	ENST00000310380.6	-	4	913	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	XXYLT1_ENST00000437101.1_Missense_Mutation_p.R66C|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R66C|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R63C|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R123C	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	269						integral to membrane	transferase activity, transferring glycosyl groups										TTCTCATGGCGGAACTGCCAG	0.667000													5	306					0	0	1.23904e-05	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													7	733					0	0	5.18039e-06	0	0
ZNF521	25925	broad.mit.edu	37	18	22806481	22806481	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:22806481C>T	ENST00000361524.3	-	4	1549	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	ZNF521_ENST00000538137.2_Silent_p.L467L|ZNF521_ENST00000584787.1_Silent_p.L247L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	467					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGAAACAATCAGACCTGGGT	0.463000			T	PAX5	ALL								21	418					0	0	0.000132079	0	0
ZNF773	374928	broad.mit.edu	37	19	58016113	58016113	+	Missense_Mutation	SNP	G	G	T	rs140869170		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:58016113G>T	ENST00000599847.1	+	2	264	c.122G>T	c.(121-123)cGc>cTc	p.R41L	AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L|ZNF773_ENST00000282292.4_Missense_Mutation_p.R41L|ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L			Q6PK81	ZN773_HUMAN	zinc finger protein 773	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CTCCTCTACCGCAATGTGATG	0.527000													92	379					7.0969e-38	6.99663e-36	0.000147903	1	0
NHS	4810	broad.mit.edu	37	X	17745920	17745920	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:17745920G>C	ENST00000380060.3	+	6	3969	c.3631G>C	c.(3631-3633)Gaa>Caa	p.E1211Q	NHS_ENST00000398097.3_Missense_Mutation_p.E1055Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1211						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGCGATCCAGAAACCATAAC	0.408000													13	355					0	0	1.49906e-05	0	0
NEURL	0	broad.mit.edu	37	10	105349367	105349367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:105349367A>C	ENST00000369780.4	+	5	1845	c.1436A>C	c.(1435-1437)gAc>gCc	p.D479A	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.D462A	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		479					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCCTGTCTGACCCCTTGCTC	0.647000													11	476					0	0	6.40141e-05	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238436	71238436	+	Silent	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677000													7	841					0	0	2.17888e-05	0	0
MUC2	4583	broad.mit.edu	37	11	1096405	1096405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:1096405G>A	ENST00000441003.2	+	34	6457	c.6430G>A	c.(6430-6432)Gtg>Atg	p.V2144M	MUC2_ENST00000361558.6_Missense_Mutation_p.V282M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4506						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCACCTACGTGCTGGTGGA	0.602000													76	266					0	0	0.000147903	0	0
CSPG4	1464	broad.mit.edu	37	15	75977834	75977834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:75977834G>A	ENST00000308508.5	-	4	4090	c.3998C>T	c.(3997-3999)tCg>tTg	p.S1333L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1333	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACATCCAGCGAGAAGGCATC	0.662000													24	33					0	0	5.49717e-05	0	0
NCOA6	23054	broad.mit.edu	37	20	33345759	33345759	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:33345759C>T	ENST00000374796.2	-	8	3362	c.792G>A	c.(790-792)caG>caA	p.Q264Q	NCOA6_ENST00000359003.2_Silent_p.Q264Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	264	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q264Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgctgctgctgct	0.532000													6	297					0	0	5.18039e-06	0	0
PRKDC	5591	broad.mit.edu	37	8	48790343	48790343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:48790343C>A	ENST00000314191.2	-	41	5358	c.5302G>T	c.(5302-5304)Gaa>Taa	p.E1768*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1768*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1769					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGCTGCTGTTCCCGACAAAGA	0.383000								Non-homologous end-joining					10	647					6.40141e-05	0.00578816	6.40141e-05	1	0
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:39626980G>C	ENST00000265708.4	-	12	1246	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L|ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443000													9	298					0	0	1.12685e-05	0	0
SLFN13	146857	broad.mit.edu	37	17	33767722	33767722	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:33767722C>T	ENST00000285013.6	-	6	2861	c.2586G>A	c.(2584-2586)agG>agA	p.R862R	SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000542635.1_Silent_p.R862R|SLFN13_ENST00000533791.1_Silent_p.R862R|SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000526861.1_Silent_p.R862R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	862						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACACTATGCTCCTTTCCAGGC	0.478000													15	806					0	0	5.01169e-05	0	0
FRG1B	0	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													8	633					0	0	0.00010058	0	0
CYP4F22	126410	broad.mit.edu	37	19	15655075	15655075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:15655075T>C	ENST00000269703.2	+	10	1320	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.L374P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	374						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCCGGGAGCTGGAGGAGCTG	0.542000													7	148					0	0	8.12818e-05	0	0
IVL	3713	broad.mit.edu	37	1	152882593	152882593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:152882593A>G	ENST00000368764.3	+	2	384	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGAGCAGCAGCTTAAGCAG	0.488000													38	176					0	0	0.000132358	0	0
IGHV1OR15-9	0	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T	rs144252881	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:20170029C>T	ENST00000338912.5	-	0	242																											CCTGGAACTTCTGTGCATAGC	0.547000													8	613					0	0	9.31168e-06	0	0
MYO7B	4648	broad.mit.edu	37	2	128335762	128335762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:128335762C>T	ENST00000389524.4	+	9	957	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	MYO7B_ENST00000409816.2_Missense_Mutation_p.R302C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R302C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	302	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCCACATCCGCTCGGCCAT	0.622000													33	170					0	0	7.24521e-05	0	0
CCDC125	202243	broad.mit.edu	37	5	68606995	68606995	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:68606995G>C	ENST00000396496.2	-	4	510	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	CCDC125_ENST00000511257.1_Missense_Mutation_p.Q10E|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q135E|CCDC125_ENST00000383374.2_Missense_Mutation_p.Q134E			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	135						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AGTTGTCTTTGAGATGCCTCA	0.333000													5	255					0	0	3.59834e-05	0	0
ELMO1	9844	broad.mit.edu	37	7	37311484	37311484	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:37311484G>A	ENST00000310758.4	-	5	843	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO1_ENST00000448602.1_Missense_Mutation_p.R66C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R66C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	66					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R66C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCTCATTGCGGTTCTGGAAA	0.363000													18	355					0	0	7.07596e-05	0	0
IRS2	8660	broad.mit.edu	37	13	110436560	110436560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:110436560G>A	ENST00000375856.3	-	1	2355	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	614					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGGCAGGACGGGCAGAGGCG	0.697000													4	46					0	0	1.23904e-05	0	0
STIL	6491	broad.mit.edu	37	1	47748097	47748097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:47748097T>C	ENST00000360380.3	-	12	1531	c.1168A>G	c.(1168-1170)Ata>Gta	p.I390V	STIL_ENST00000396221.2_Missense_Mutation_p.I390V|STIL_ENST00000371877.3_Missense_Mutation_p.I390V|STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000337817.5_Missense_Mutation_p.I390V			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	390					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGATCATGTATTGGCATCTTC	0.388000													95	362					0	0	0.000147903	0	0
PMS2CL	0	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1																						AGAATGGCTTCGATTTTGTTA	0.398000													13	170					0	0	9.31168e-06	0	0
VDAC2	7417	broad.mit.edu	37	10	76979095	76979095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:76979095A>G	ENST00000535553.1	+	7	576	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	VDAC2_ENST00000332211.6_Missense_Mutation_p.T113A|VDAC2_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.T113A			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	113						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ATTTGATACTACCTTCTCACC	0.239000													84	318					0	0	0.000147903	0	0
FRG1B	0	broad.mit.edu	37	20	29628273	29628273	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:29628273A>G	ENST00000278882.3	+	6	655	c.275A>G	c.(274-276)aAt>aGt	p.N92S	FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S|FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTAGATGCAATGAAGCAGGG	0.373000													8	612					0	0	2.31682e-05	0	0
MEGF6	1953	broad.mit.edu	37	1	3511972	3511972	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:3511972C>T	ENST00000356575.4	-	3	532	c.306G>A	c.(304-306)acG>acA	p.T102T		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	102	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCGGGCCTCCGTGGTATACA	0.637000													22	281					0	0	7.16444e-05	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522000													7	586					0	0	5.18039e-06	0	0
PLEC	5339	broad.mit.edu	37	8	144991972	144991972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144991972G>A	ENST00000322810.4	-	32	12597	c.12428C>T	c.(12427-12429)tCg>tTg	p.S4143L	PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3974L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4143	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCTCGGCCGACAGCAGCTT	0.607000													12	344					0	0	6.40141e-05	0	0
RYR2	6262	broad.mit.edu	37	1	237780691	237780691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:237780691C>T	ENST00000366574.2	+	38	6138	c.5821C>T	c.(5821-5823)Cgt>Tgt	p.R1941C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1925C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1939C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1941	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACAATCAACGTTTCCGATA	0.473000													4	235					0	0	2.56e-06	0	0
LOX	4015	broad.mit.edu	37	5	121409724	121409724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121409724C>T	ENST00000231004.4	-	4	1318	c.1019G>A	c.(1018-1020)tGt>tAt	p.C340Y	SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTGTGCAGTACATGCAAATCG	0.478000													58	888					0	0	0.000147903	0	0
DENND6A	201627	broad.mit.edu	37	3	57616512	57616512	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:57616512T>A	ENST00000311128.5	-	17	1517	c.1447A>T	c.(1447-1449)Atg>Ttg	p.M483L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		AGTGTTTTCATAAATTCTTCT	0.353000													8	492					0	0	1.12685e-05	0	0
IQCB1	9657	broad.mit.edu	37	3	121526279	121526279	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:121526279C>A	ENST00000310864.6	-	7	713	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	IQCB1_ENST00000349820.6_Missense_Mutation_p.D167Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	167					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AAGAAATGATCACTTTGTAGT	0.308000													19	906					9.7654e-05	0.00877795	9.7654e-05	1	0
TMTC3	160418	broad.mit.edu	37	12	88568385	88568385	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:88568385G>A	ENST00000266712.6	+	9	1421	c.1199_splice	c.e9-1	p.V401_splice		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	401						integral to membrane	binding	p.V401I(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTAAACAGTGTATTTAAAAA	0.318000													89	232					0	0	0.000147903	0	0
MICAL2	9645	broad.mit.edu	37	11	12247727	12247727	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:12247727C>G	ENST00000256194.4	+	14	1986	c.1698C>G	c.(1696-1698)gaC>gaG	p.D566E	MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E|MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E|MICAL2_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	566	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCAACTTTGACTCTTTGAATG	0.517000													12	449					0	0	9.31168e-06	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486218	37486218	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:37486218A>G	ENST00000374660.1	+	34	2912	c.2813A>G	c.(2812-2814)gAg>gGg	p.E938G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E819G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E819G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGCCTCCCGAGAAGCCATCT	0.328000													8	1536					0	0	2.56e-06	0	0
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587000													6	169					0	0	3.59834e-05	0	0
PKD1	5310	broad.mit.edu	37	16	2161454	2161454	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2161454G>A	ENST00000262304.4	-	15	3922	c.3714C>T	c.(3712-3714)ggC>ggT	p.G1238G	PKD1_ENST00000423118.1_Silent_p.G1238G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1238	PKD 7.				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						TGATGTTGTCGCCCGTCTGCA	0.672000													48	124					0	0	0.000147903	0	0
HERC2P3	0	broad.mit.edu	37	15	20644645	20644645	+	RNA	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:20644645G>A	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCTCTGAGTGATGGCACTAC	0.632000													5	63					0	0	3.59834e-05	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													8	496					0	0	3.86212e-05	0	0
BMP2	650	broad.mit.edu	37	20	6759506	6759506	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:6759506C>G	ENST00000378827.4	+	3	2180	c.961C>G	c.(961-963)Cac>Gac	p.H321D		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	321					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CCCGGGGTATCACGCCTTTTA	0.512000													19	223					0	0	4.16121e-05	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													4	103					0	0	1.23904e-05	0	0
CDH20	28316	broad.mit.edu	37	18	59217416	59217416	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:59217416C>T	ENST00000262717.4	+	11	2252	c.1854C>T	c.(1852-1854)agC>agT	p.S618S	CDH20_ENST00000538374.1_Silent_p.S618S|CDH20_ENST00000536675.2_Silent_p.S618S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	618					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAGTTTGAGCCGGGGCGCCC	0.597000													5	319					0	0	1.23904e-05	0	0
FCRL2	79368	broad.mit.edu	37	1	157736756	157736756	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:157736756C>G	ENST00000361516.3	-	7	1216	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	FCRL2_ENST00000469986.1_Missense_Mutation_p.D137H|FCRL2_ENST00000392274.3_Missense_Mutation_p.D390H|FCRL2_ENST00000368181.4_Missense_Mutation_p.D106H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	390					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTATAGCCATCAGGTCCTGAG	0.443000													4	219					0	0	2.56e-06	0	0
PTPDC1	138639	broad.mit.edu	37	9	96847575	96847575	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:96847575A>G	ENST00000375360.3	+	3	465	c.125A>G	c.(124-126)gAg>gGg	p.E42G	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E94G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	42							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGTAGGGGAGCGTTTACGG	0.453000													147	519					0	0	0.000147903	0	0
CSMD3	114788	broad.mit.edu	37	8	113349048	113349048	+	Silent	SNP	A	A	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:113349048A>T	ENST00000297405.5	-	44	7096	c.6852T>A	c.(6850-6852)ggT>ggA	p.G2284G	CSMD3_ENST00000455883.2_Silent_p.G2180G|CSMD3_ENST00000352409.3_Silent_p.G2214G|CSMD3_ENST00000343508.3_Silent_p.G2244G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2284	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATATTCCCACCACAAAGAG	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			163	313					0	0	0.000147903	0	0
INTU	27152	broad.mit.edu	37	4	128626895	128626895	+	Silent	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:128626895A>G	ENST00000335251.5	+	11	1819	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	572										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATCACCTCCGACCTTTGGCAG	0.448000													17	892					0	0	9.7654e-05	0	0
NCOR1P1	0	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													4	101					0	0	0.00010058	0	0
SMCR8	140775	broad.mit.edu	37	17	18220237	18220237	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:18220237C>T	ENST00000406438.3	+	1	1614	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	378										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGTGGAGGTCGATGACAGGA	0.448000													84	237					0	0	0.000147903	0	0
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:21806606T>G	ENST00000318220.6	+	14	2151	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468000													5	91					0	0	1.23904e-05	0	0
FAM133A	286499	broad.mit.edu	37	X	92964973	92964973	+	Silent	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:92964973T>C	ENST00000538690.1	+	5	1116	c.555T>C	c.(553-555)ccT>ccC	p.P185P	FAM133A_ENST00000322139.4_Silent_p.P185P|FAM133A_ENST00000332647.4_Silent_p.P185P|FAM133A_ENST00000355813.5_Silent_p.P185P	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	185	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGTTACCCTGATGATAAAC	0.368000													7	60					0	0	8.12818e-05	0	0
PCDH10	57575	broad.mit.edu	37	4	134084224	134084224	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:134084224C>G	ENST00000264360.4	+	4	3716	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	964					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCTGATGGACGCCAGGCTGC	0.522000													10	391					0	0	2.17888e-05	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													5	230					0	0	3.59834e-05	0	0
KIF26B	55083	broad.mit.edu	37	1	245772663	245772663	+	Missense_Mutation	SNP	C	C	T	rs115703444	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:245772663C>T	ENST00000366518.4	+	5	708	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R583C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	583					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATAAACGAACGCAAGGAAAA	0.567000													17	76					0	0	7.07596e-05	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													8	654					0	0	2.17888e-05	0	0
TBL3	10607	broad.mit.edu	37	16	2024811	2024811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2024811G>A	ENST00000568546.1	+	6	555	c.427G>A	c.(427-429)Ggg>Agg	p.G143R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	143					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCGGCACTACGGGACACACCA	0.662000													9	308					0	0	2.17888e-05	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671709	125671709	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:125671709C>T	ENST00000431078.1	+	24	4129	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1255					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1255I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTATCATCGGCATCATGA	0.468000													25	475					0	0	2.90539e-05	0	0
WIPF1	7456	broad.mit.edu	37	2	175436585	175436585	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:175436585G>A	ENST00000392547.2	-	5	1047	c.948C>T	c.(946-948)ccC>ccT	p.P316P	WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000392546.2_Silent_p.P316P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P|WIPF1_ENST00000272746.5_Silent_p.P316P|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	316	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGCGGCCCGGGCCTGCTGG	0.662000													34	147					0	0	7.24521e-05	0	0
ACOT12	134526	broad.mit.edu	37	5	80640798	80640798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80640798C>T	ENST00000307624.3	-	8	864	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	279	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTTGATGTGACGCCCTCGGCC	0.493000													65	266					0	0	0.000147903	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				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						ggaatggaatcgaatcgaatc	0.373000													6	41					0	0	3.59834e-05	0	0
AGL	178	broad.mit.edu	37	1	100382219	100382219	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:100382219G>A	ENST00000294724.4	+	33	4891	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P	AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361522.4_Silent_p.P1454P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000370163.3_Silent_p.P1471P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1471					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATGGGCCCGGAGACTACTG	0.353000													17	285					0	0	5.01169e-05	0	0
HOXD1	3231	broad.mit.edu	37	2	177054576	177054576	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:177054576G>A	ENST00000331462.4	+	2	916	c.693G>A	c.(691-693)gcG>gcA	p.A231A		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCTCCAGCGCGATCCGCACGA	0.557000													10	685					0	0	3.86212e-05	0	0
MIR663A	0	broad.mit.edu	37	20	26188829	26188829	+	RNA	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:26188829G>A	ENST00000385250.1	-	0	85					NR_030386.1																						AGGCATGGCCGGGCCACCAGG	0.756000													8	10					0	0	1.12685e-05	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847617	47847617	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:47847617C>G	ENST00000339488.4	-	3	996	c.963G>C	c.(961-963)gaG>gaC	p.E321D		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	321	SSD.					integral to membrane	hedgehog receptor activity										AGGGCAAGTTCTCTTTGGTTC	0.408000													7	64					0	0	8.12818e-05	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391518	102391518	+	Missense_Mutation	SNP	G	G	A	rs147942579	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:102391518G>A	ENST00000422945.2	+	16	1673	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.R495H	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	495					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTGCACGCCGCAAGTCCGAG	0.572000													8	901					0	0	1.12685e-05	0	0
OR5B17	219965	broad.mit.edu	37	11	58126293	58126293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:58126293G>T	ENST00000357377.3	-	1	249	c.250C>A	c.(250-252)Ctt>Att	p.L84I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCTATAAGCAACCCAGTT	0.458000													53	182					2.69774e-35	2.62575e-33	0.000147903	1	0
SON	6651	broad.mit.edu	37	21	34922623	34922623	+	Silent	SNP	G	G	A	rs143771064	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:34922623G>A	ENST00000356577.4	+	3	1561	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.P362P|SON_ENST00000290239.6_Silent_p.P362P|SON_ENST00000300278.4_Silent_p.P362P	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	362					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGTTGCCGGAGCTGCCTA	0.587000													7	452					0	0	5.18039e-06	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904417	73904417	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:73904417G>A	ENST00000342056.2	+	15	2534	c.2136G>A	c.(2134-2136)acG>acA	p.T712T	KCNQ5_ENST00000355194.4_Silent_p.T693T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000355635.3_Silent_p.T694T|KCNQ5_ENST00000370398.1_Silent_p.T693T|KCNQ5_ENST00000403813.2_Silent_p.T684T|KCNQ5_ENST00000402622.2_Silent_p.T703T	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	693					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCATTCTGACGCCAAATGAGT	0.502000													116	420					0	0	0.000147903	0	0
KIFAP3	22920	broad.mit.edu	37	1	170015874	170015874	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:170015874G>T	ENST00000367765.1	-	3	1679	c.178C>A	c.(178-180)Cgt>Agt	p.R60S	KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R100S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGAATCACGGCGGTTCTGT	0.363000													15	704					1.67942e-08	1.57443e-06	7.07596e-05	1	0
STK3	6788	broad.mit.edu	37	8	99468195	99468195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:99468195G>A	ENST00000523601.1	-	13	1834	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	STK3_ENST00000419617.2_Missense_Mutation_p.R451W	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	451	SARAH.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCTTTTAACCGCATCTGTAGT	0.383000													6	173					0	0	3.59834e-05	0	0
RGS12	6002	broad.mit.edu	37	4	3319755	3319755	+	Silent	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:3319755C>A	ENST00000336727.3	+	2	2762	c.1858C>A	c.(1858-1860)Cga>Aga	p.R620R	RGS12_ENST00000543385.1_Silent_p.R620R|RGS12_ENST00000344733.5_Silent_p.R620R|RGS12_ENST00000382788.3_Silent_p.R620R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCGAAATGTTCGAAAGACTAA	0.582000													10	535					2.17888e-05	0.0020179	2.17888e-05	1	0
KLHDC3	116138	broad.mit.edu	37	6	42985680	42985680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:42985680T>C	ENST00000326974.4	+	4	616	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	KLHDC3_ENST00000244670.8_Intron|KLHDC3_ENST00000332245.8_Missense_Mutation_p.Y82H	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	141					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAAGATCATGTACATTTTTGG	0.512000													8	560					0	0	1.12685e-05	0	0
RAPH1	65059	broad.mit.edu	37	2	204305402	204305402	+	Silent	SNP	C	C	T	rs144494517		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:204305402C>T	ENST00000319170.5	-	14	2810	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	RAPH1_ENST00000374493.3_Silent_p.P889P|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	837					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAATGTTGGCGGGGGTACTG	0.582000													17	344					0	0	9.7654e-05	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	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													6	302					0	0	3.59834e-05	0	0
TOP1	7150	broad.mit.edu	37	20	39750710	39750710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:39750710C>A	ENST00000361337.2	+	20	2360	c.2110C>A	c.(2110-2112)Caa>Aaa	p.Q704K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	704					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCTGGAAGTTCAAGCCACAGA	0.478000			T	NUP98	AML*								17	604					2.4624e-09	2.32271e-07	0.000132079	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70591817	70591817	+	Missense_Mutation	SNP	C	C	T	rs151145765	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:70591817C>T	ENST00000260126.3	-	8	2526	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R552H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R607H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	607						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCACTTGGCGACTTTGGAC	0.453000													15	558					0	0	1.49906e-05	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390894	208390894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:208390894C>T	ENST00000367033.3	-	2	1131	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	125	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCCAGCAGGCGGTTCTCAGA	0.577000													112	359					0	0	0.000147903	0	0
OR14C36	127066	broad.mit.edu	37	1	248513002	248513002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:248513002C>A	ENST00000317861.1	+	1	926	c.926C>A	c.(925-927)tCa>tAa	p.S309*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTTTTATTCAGAAAATGTG	0.328000													10	374					0.00010058	0.00898808	0.00010058	1	0
SPATA20	64847	broad.mit.edu	37	17	48631760	48631760	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:48631760G>A	ENST00000006658.6	+	15	2226	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SPATA20_ENST00000356488.4_Silent_p.A686A|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.A642A	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	686					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCCCGGTGGCGTTGCCCGAGA	0.647000													5	411					0	0	1.23904e-05	0	0
SCRIB	23513	broad.mit.edu	37	8	144891159	144891159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144891159C>T	ENST00000356994.2	-	15	1741	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	SCRIB_ENST00000320476.3_Missense_Mutation_p.G579R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G498R	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	579	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGTCATCCCCGGGCAGCAGT	0.642000													26	443					0	0	2.25844e-05	0	0
RPL14	9045	broad.mit.edu	37	3	40503613	40503613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:40503613G>A	ENST00000396203.2	+	6	670	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	RPL14_ENST00000338970.6_Missense_Mutation_p.A180T|RPL14_ENST00000416518.1_3'UTR	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	180	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGGTTCCTGCCCAGAAAGC	0.552000													50	162					0	0	0.000147903	0	0
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502000													13	1468					0	0	8.12818e-05	0	0
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388000													80	217					0	0	0.000147903	0	0
TERF2	7014	broad.mit.edu	37	16	69390938	69390938	+	Nonsense_Mutation	SNP	C	C	A	rs150757154	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:69390938C>A	ENST00000254942.3	-	10	1508	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	TERF2_ENST00000603068.1_Nonsense_Mutation_p.E456*	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	456	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TTGACCCACTCGCTTTCTTCT	0.403000													9	555					3.86212e-05	0.00355524	3.86212e-05	1	0
HM13	81502	broad.mit.edu	37	20	30125989	30125989	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30125989C>G	ENST00000335574.5	+	3	414	c.290C>G	c.(289-291)tCc>tGc	p.S97C	HM13_ENST00000398174.3_Missense_Mutation_p.S97C|HM13_ENST00000376127.3_Missense_Mutation_p.S97C|HM13_ENST00000340852.5_Missense_Mutation_p.S97C	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	97					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CAGATATTCTCCCAGGAGTAC	0.512000													68	385					0	0	0.000147903	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.622000													45	817					0	0	8.96297e-05	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477352	110477352	+	Silent	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:110477352G>C	ENST00000260283.4	-	10	1181	c.897C>G	c.(895-897)ctC>ctG	p.L299L	ARHGAP20_ENST00000524756.1_Silent_p.L276L|ARHGAP20_ENST00000528829.1_Silent_p.L263L|ARHGAP20_ENST00000533353.1_Silent_p.L273L|ARHGAP20_ENST00000357139.3_Silent_p.L273L|ARHGAP20_ENST00000527598.1_Silent_p.L263L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	299					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCGGGGGAGCTGTTCCA	0.537000													10	913					0	0	3.86212e-05	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482085	123482085	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:123482085G>T	ENST00000280562.5	-	10	1464	c.1259C>A	c.(1258-1260)tCc>tAc	p.S420Y	PITPNM2_ENST00000542749.1_Missense_Mutation_p.S420Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S141Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	420					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGATCTTGGAGGGCGGTGC	0.657000													128	398					3.36649e-63	3.34047e-61	0.000147903	1	0
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGAGGATGGGCCTCCGGTT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			63	135					0	0	0.000147903	0	0
DMXL1	1657	broad.mit.edu	37	5	118506551	118506551	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:118506551A>C	ENST00000311085.8	+	24	6145	c.6065A>C	c.(6064-6066)gAt>gCt	p.D2022A	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2022A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2022										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCATCAGAAGATATAATTGCA	0.313000													63	276					0	0	0.000147903	0	0
LYST	1130	broad.mit.edu	37	1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294000													6	367					0	0	8.12818e-05	0	0
PLEKHM1P	0	broad.mit.edu	37	17	62788593	62788593	+	RNA	SNP	A	A	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:62788593A>T	ENST00000582986.1	-	0	2016					NR_024386.1																						AGACGCGTTCACCATCTGCAG	0.617000													92	345					0	0	0.000147903	0	0
ZNF569	148266	broad.mit.edu	37	19	37903725	37903725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:37903725C>T	ENST00000316950.6	-	6	2392	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E|ZNF569_ENST00000392149.2_Missense_Mutation_p.G612E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGGCTTTTCCACATTTATT	0.408000													170	509					0	0	0.000147903	0	0
CCDC87	55231	broad.mit.edu	37	11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCCTCAGGCGGGCTTTGGAG	0.557000													31	533					0	0	2.25844e-05	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													11	812					0	0	6.40141e-05	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043334	184043334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:184043334G>A	ENST00000342981.4	+	19	3445	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1010K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E923K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1017K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1010	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAGGAGGCTGAGATGGAAGA	0.577000													8	624					0	0	5.18039e-06	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	301					0	0	3.59834e-05	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													5	192					0	0	1.23904e-05	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164527	85164527	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:85164527C>T	ENST00000448803.2	+	3	1393	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000327179.6_Silent_p.C366C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	367					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C367C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502000													7	612					0	0	1.12685e-05	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807360	133807360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:133807360G>A	ENST00000321016.8	-	5	820	c.590C>T	c.(589-591)tCg>tTg	p.S197L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S197L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	197	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGACTGACCGATGTCACTGT	0.607000													69	194					0	0	0.000147903	0	0
DCC	1630	broad.mit.edu	37	18	50912488	50912488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:50912488C>T	ENST00000442544.2	+	16	3051	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V	DCC_ENST00000412726.1_Missense_Mutation_p.A660V|DCC_ENST00000581580.1_Missense_Mutation_p.A467V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	812	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATGAAAGTGCCACCACCAGG	0.333000													5	470					0	0	8.12818e-05	0	0
RASGRF2	5924	broad.mit.edu	37	5	80376464	80376464	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80376464T>G	ENST00000265080.4	+	7	1084	c.1017T>G	c.(1015-1017)ttT>ttG	p.F339L	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	339	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCAAGAATTTGTGCGTAATC	0.403000													49	706					0	0	0.000147903	0	0
FTMT	94033	broad.mit.edu	37	5	121188177	121188177	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121188177G>A	ENST00000321339.1	+	1	528	c.519G>A	c.(517-519)tcG>tcA	p.S173S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	173	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAACCAGTCGTTGCTGGAAT	0.517000													32	513					0	0	3.70037e-05	0	0
WASF3	10810	broad.mit.edu	37	13	27259854	27259854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27259854C>T	ENST00000361042.4	+	10	1597	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	WASF3_ENST00000335327.5_Missense_Mutation_p.R461W			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	461					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCAGGAGCAGCGGGAGCAGGA	0.532000													53	257					0	0	0.000147903	0	0
NPHP3	27031	broad.mit.edu	37	3	132407536	132407536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:132407536C>T	ENST00000337331.5	-	21	3169	c.3083G>A	c.(3082-3084)cGt>cAt	p.R1028H	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1028					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCAAGTTCACGAGCAGTATA	0.388000													75	802					0	0	0.000147903	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28315795	28315795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:28315795G>A	ENST00000284987.5	-	3	1430	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	437	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACATTAAGCGCTTATCTTCT	0.453000													9	235					0	0	2.17888e-05	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000													6	260					0	0	8.12818e-05	0	0
ZNF613	79898	broad.mit.edu	37	19	52448407	52448407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:52448407G>A	ENST00000293471.6	+	6	1950	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACTCACACTGGAGAGAAACCC	0.418000													9	357					0	0	1.12685e-05	0	0
CLTC	1213	broad.mit.edu	37	17	57725004	57725004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:57725004C>A	ENST00000269122.3	+	3	770	c.496C>A	c.(496-498)Ctt>Att	p.L166I	CLTC_ENST00000393043.1_Missense_Mutation_p.L166I|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	166	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAGTGGTTACTTCTGACTGG	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """								101	387					6.17951e-33	5.97652e-31	0.000147903	1	0
SCN9A	6335	broad.mit.edu	37	2	167141148	167141148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:167141148G>A	ENST00000303354.6	-	12	2132	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R597*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R597*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	597						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGCTGCGTCGCTCCTGGGGT	0.542000													26	358					0	0	0.000117367	0	0
TANGO6	79613	broad.mit.edu	37	16	68900986	68900986	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:68900986G>T	ENST00000261778.1	+	4	869	c.857G>T	c.(856-858)tGc>tTc	p.C286F		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TCTCAGTCCTGCACAGATGTG	0.448000													79	340					9.25274e-37	9.06353e-35	0.000147903	1	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	248					0	0	1.23904e-05	0	0
MTHFD1	4522	broad.mit.edu	37	14	64854981	64854981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:64854981C>T	ENST00000545908.1	+	1	233	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	MTHFD1_ENST00000216605.7_Missense_Mutation_p.R2C|MTHFD1_ENST00000555709.1_5'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	0	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.	Not acetylated.			folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACTGCGCATGCGCCACCGCGT	0.627000													5	43					0	0	1.23904e-05	0	0
XPC	7508	broad.mit.edu	37	3	14200132	14200132	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:14200132C>T	ENST00000285021.7	-	9	1465	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	XPC_ENST00000449060.2_Silent_p.P380P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	417	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGGCCATGCGGACGTCGCT	0.607000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	700					0	0	8.12818e-05	0	0
AKAP12	9590	broad.mit.edu	37	6	151669981	151669981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:151669981C>T	ENST00000402676.2	+	4	695	c.455C>T	c.(454-456)tCa>tTa	p.S152L	AKAP12_ENST00000359755.5_Missense_Mutation_p.S47L|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Missense_Mutation_p.S152L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S54L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	152					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATTCCTTCTTCAGAAAGCAAT	0.423000													7	658					0	0	5.18039e-06	0	0
DBH	1621	broad.mit.edu	37	9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657000													9	348					0	0	6.40141e-05	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													7	213					0	0	8.12818e-05	0	0
CIAO1	9391	broad.mit.edu	37	2	96933201	96933201	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:96933201C>G	ENST00000488633.1	+	2	501	c.282C>G	c.(280-282)gaC>gaG	p.D94E	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	94					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						ACCAGGATGACTTTGAGGTAC	0.572000													108	328					0	0	0.000147903	0	0
MTUS2	23281	broad.mit.edu	37	13	29600278	29600278	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:29600278G>A	ENST00000431530.3	+	1	1531	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	481						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAACAAGACGGAGGTGCCTG	0.517000													38	167					0	0	4.2857e-05	0	0
ETV6	2120	broad.mit.edu	37	12	12037406	12037406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:12037406A>G	ENST00000396373.4	+	6	1311	c.1037A>G	c.(1036-1038)tAt>tGt	p.Y346C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	346						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GATTACGTCTATCAGTTGCTT	0.438000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								153	675					0	0	0.000147903	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			81	288					0	0	0.000147903	0	0
ITGA6	0	broad.mit.edu	37	2	173356152	173356152	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:173356152G>A	ENST00000375221.2	+	24	3209		c.e24-1		ITGA6_ENST00000343713.4_Splice_Site|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000264106.6_Splice_Site|ITGA6_ENST00000409532.1_Splice_Site|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6						blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTCCAAACAGGAATATTCCA	0.463000													15	322					0	0	2.31682e-05	0	0
HRC	3270	broad.mit.edu	37	19	49657913	49657913	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:49657913C>T	ENST00000252825.4	-	1	768	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HRC_ENST00000595625.1_Silent_p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	194	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E194E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctcttcTCCTT	0.557000													5	326					0	0	1.23904e-05	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													6	417					0	0	1.12685e-05	0	0
MALAT1	0	broad.mit.edu	37	11	65271986	65271986	+	RNA	SNP	T	T	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:65271986T>A	ENST00000534336.1	+	0	6754					NR_002819.2																						TGATAAAGGCTGAGTGTTGAG	0.368000													39	143					0	0	4.2857e-05	0	0
LRBA	987	broad.mit.edu	37	4	151199141	151199141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:151199141G>A	ENST00000535741.1	-	56	8805	c.8332C>T	c.(8332-8334)Cga>Tga	p.R2778*	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Nonsense_Mutation_p.R2789*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2777*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2789						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCCCATCTCGGCTCAGCTGG	0.547000													15	274					0	0	1.49906e-05	0	0
BMP1	649	broad.mit.edu	37	8	22037971	22037971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:22037971G>A	ENST00000306385.5	+	8	1722	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R351H|BMP1_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	351	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCGTGTGGCGCATCTCTGTC	0.612000													5	404					0	0	1.23904e-05	0	0
FAM5B	0	broad.mit.edu	37	1	177250548	177250548	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:177250548C>T	ENST00000361539.4	+	8	2548	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		746						extracellular region		p.R746W(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGCTTGCTCCGGCATCGGCT	0.557000													86	274					0	0	0.000147903	0	0
KLHL14	57565	broad.mit.edu	37	18	30322007	30322007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:30322007C>T	ENST00000359358.4	-	3	1391	c.953G>A	c.(952-954)cGc>cAc	p.R318H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R318H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	318						cytosol|endoplasmic reticulum membrane		p.R318H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTTGTTAGAGCGAATTCTTCA	0.428000													9	345					0	0	6.40141e-05	0	0
TIE1	7075	broad.mit.edu	37	1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A565V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A920V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGAATATGCCCCCTACGGG	0.527000													9	1674					0	0	1.12685e-05	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													9	386					0	0	0.00010058	0	0
PHACTR1	221692	broad.mit.edu	37	6	13273094	13273094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:13273094G>A	ENST00000379350.1	+	10	1523	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q|PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	465						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTCCGTAGGCGGCTGAGCCAG	0.483000													38	783					0	0	4.2857e-05	0	0
MRPL20	55052	broad.mit.edu	37	1	1337486	1337486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:1337486delA	ENST00000344843.7	-	4	522	c.427delT	c.(427-429)ccfs	p.S143fs	MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	143							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCACTCTGGAAAAAATGCCT	0.443													7	1198	---	---	---	---					
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)del	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384													7	742	---	---	---	---					
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:67390426delT	ENST00000371026.3	-	1	144	c.89delA	c.(88-90)agfs	p.K30fs	WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	30										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622													10	730	---	---	---	---					
ANKRD13C	81573	broad.mit.edu	37	1	70819981	70819981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:70819981delG	ENST00000370944.4	-	1	424	c.111delC	c.(109-111)acfs	p.T37fs	ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.T37fs	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	37					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTCTGGTAAAGGTACCGCCGA	0.602													79	432	---	---	---	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:150530506delG	ENST00000271643.4	+	14	2499	c.2263delG	c.(2263-2265)ggfs	p.G758fs	ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													8	585	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													13	355	---	---	---	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)caa>ca	p.QQ954del	INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													7	921	---	---	---	---					
IFT172	26160	broad.mit.edu	37	2	27700888	27700888	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:27700888delC	ENST00000260570.3	-	11	1244	c.1141delG	c.(1141-1143)acfs	p.D381fs	IFT172_ENST00000359466.6_Frame_Shift_Del_p.D381fs|IFT172_ENST00000416524.2_Frame_Shift_Del_p.D360fs	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	381					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTGTTCAGGTCCCCCAGCAGC	0.488													7	1247	---	---	---	---					
RNF103	7844	broad.mit.edu	37	2	86831014	86831015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:86831014_86831015insT	ENST00000237455.4	-	4	2977_2978	c.2009_2010insA	c.(2008-2010)acafs	p.T670fs	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CATATGGCTGCTTTTTTTTATA	0.441													8	563	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													10	186	---	---	---	---					
MRPS5	64969	broad.mit.edu	37	2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCTTCCTTTTTTTGCTC	0.383													10	812	---	---	---	---					
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)tcfs	p.F217fs		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602													9	595	---	---	---	---					
MKI67IP	0	broad.mit.edu	37	2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)gafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCTTCGTCTTTTTTTCCGT	0.303													8	703	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-	rs139457585		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)del	p.P605del	R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586													7	397	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													7	21	---	---	---	---					
RPL15	6138	broad.mit.edu	37	3	23960714	23960715	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:23960714_23960715insT	ENST00000307839.5	+	4	976_977	c.337_338insT	c.(337-339)gagfs	p.E113fs	RPL15_ENST00000415719.1_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000435882.1_Frame_Shift_Ins_p.E113fs|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	113					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTGTGGGGCTCTGAGAGTCCTG	0.421													114	332	---	---	---	---					
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)ttfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398													9	337	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:99568272_99568273insT	ENST00000331335.5	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aataaafs	p.NK749fs	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													9	818	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													13	1556	---	---	---	---					
FXR1	0	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aafs	p.K123fs	FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													10	473	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)del	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463													7	677	---	---	---	---					
LIAS	11019	broad.mit.edu	37	4	39462464	39462464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:39462464delA	ENST00000261434.3	+	2	218	c.100delA	c.(100-102)aafs	p.K36fs	LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	36					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CTTGCCAGATAAAAAAAAGGA	0.393													10	904	---	---	---	---					
ATOH1	474	broad.mit.edu	37	4	94750168	94750170	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:94750168_94750170delCCG	ENST00000306011.3	+	1	127_129	c.91_93delCCG	c.(91-93)del	p.P35del		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TCTCCCGCAACCGCCGCCGCCGC	0.660													8	163	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													11	421	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													9	68	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)tcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			14	1618	---	---	---	---					
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(697-702)acaaaafs	p.TK233fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401													9	552	---	---	---	---					
RP11-756H20.1	0	broad.mit.edu	37	5	124935566	124935567	+	RNA	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:124935566_124935567insA	ENST00000564199.1	+	0	324																											ggcagaggcagaaaaaaaaatt	0.431													3	5	---	---	---	---					
VDAC1	7416	broad.mit.edu	37	5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)atfs	p.N111fs	VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403													7	282	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:141694361_141694363delTGC	ENST00000344120.4	-	3	566_568	c.380_382delGCA	c.(379-384)aca>a	p.ST127del	SPRY4_ENST00000434127.2_In_Frame_Del_p.ST104del	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	104					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.660									Testicular Cancer, Familial Clustering of				8	500	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													9	414	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32023903	32023903	+	Frame_Shift_Del	DEL	G	G	-	rs440160	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:32023903delG	ENST00000375244.3	-	24	8393	c.8192delC	c.(8191-8193)cgfs	p.P2731fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.P2731fs			P22105	TENX_HUMAN	tenascin XB	2789	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGGCTCCGGGGCCTCAGT	0.642													78	244	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													7	160	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													8	1082	---	---	---	---					
AK9	221264	broad.mit.edu	37	6	109980432	109980434	+	Splice_Site	DEL	TCT	TCT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:109980432_109980434delTCT	ENST00000424296.2	-	7	703_705	c.630_splice	c.e7+1	p.EE209_splice	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Splice_Site_p.EE209_splice|AK9_ENST00000285397.5_Splice_Site_p.EE209_splice	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AGATATTACCtcttcttcttctt	0.350													7	506	---	---	---	---					
MED23	9439	broad.mit.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:131919846delT	ENST00000403834.3	-	19	2467	c.2294delA	c.(2293-2295)atfs	p.N765fs	MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378													10	692	---	---	---	---					
MTFR2	113115	broad.mit.edu	37	6	136560838	136560840	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:136560838_136560840delGGA	ENST00000420702.1	-	6	1022_1024	c.633_635delTCC	c.(631-636)cca>cc	p.PP211del	MTFR2_ENST00000451457.2_In_Frame_Del_p.PP211del	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		aggaagtggtggaggaggaggag	0.507													9	286	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													7	587	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)del	p.E87del	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606													7	647	---	---	---	---					
TRBV7-1	0	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82																											atgtgtgtgtgAGAGAGAGAGA	0.505													7	69	---	---	---	---					
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aafs	p.K404fs	RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517													7	924	---	---	---	---					
TP53INP1	0	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													12	360	---	---	---	---					
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:107704955delG	ENST00000445937.1	+	7	786		c.e7-1		OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1						cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348													8	460	---	---	---	---					
ANXA13	312	broad.mit.edu	37	8	124707762	124707762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:124707762delT	ENST00000262219.6	-	7	641	c.574delA	c.(574-576)tcfs	p.I192fs	ANXA13_ENST00000419625.1_Frame_Shift_Del_p.I151fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GACACCAGGATTTTTTTTAGG	0.413													9	1372	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145000951	145000953	+	Splice_Site	DEL	CCT	CCT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:145000951_145000953delCCT	ENST00000322810.4	-	30	4623_4625	c.4455_splice	c.e30+1	p.G1485_splice	PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1485	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGGCTGTACCTCCTCCTCCTC	0.621													8	768	---	---	---	---					
SLC39A4	55630	broad.mit.edu	37	8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:145637952_145637954delCAG	ENST00000276833.5	-	11	2140_2142	c.1837_1839delCTG	c.(1837-1839)del	p.L613del	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601													7	1094	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974759	21974759	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:21974759delC	ENST00000304494.5	-	1	338	c.68delG	c.(67-69)gtfs	p.G23fs	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G23fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G23fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23fs*3(1)|p.G23D(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTCTACCCGACCCCGGGCCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			58	189	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423													8	1418	---	---	---	---					
C10orf68	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:33018277delA	ENST00000375030.2	+	13	1360	c.742delA	c.(742-744)aafs	p.K250fs	C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	242										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323													10	507	---	---	---	---					
DDX50	79009	broad.mit.edu	37	10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)aaafs	p.K105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATCA	0.307													7	912	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													7	705	---	---	---	---					
NUCB2	4925	broad.mit.edu	37	11	17336987	17336988	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:17336987_17336988insA	ENST00000529010.1	+	11	1186_1187	c.967_968insA	c.(967-969)aaafs	p.K323fs	NUCB2_ENST00000458064.2_Intron|NUCB2_ENST00000323688.6_Frame_Shift_Ins_p.K323fs	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	323	Binds to necdin (By similarity).|EF-hand 2.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGCCACAGAAAAAAAAGAA	0.327													11	603	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:63525788delT	ENST00000354497.4	+	4	634	c.570delT	c.(568-570)gcfs	p.A190fs	RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000377819.5_3'UTR	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN	reticulon 3	0					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348													9	374	---	---	---	---					
TIMELESS	8914	broad.mit.edu	37	12	56818901	56818903	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:56818901_56818903delCTT	ENST00000229201.4	-	14	1763_1765	c.1609_1611delAAG	c.(1609-1611)del	p.K537del	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_In_Frame_Del_p.K538del	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	538					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGTCTAGGACcttcttcttcttc	0.488													8	392	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:103695960delG	ENST00000548048.1	-	9	1304	c.808delC	c.(808-810)gcfs	p.R270fs	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587													9	660	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													9	858	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													7	23	---	---	---	---					
RNF6	6049	broad.mit.edu	37	13	26788241	26788241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:26788241delA	ENST00000381588.4	-	5	2530	c.1778delT	c.(1777-1779)tafs	p.L594fs	RNF6_ENST00000399762.2_Frame_Shift_Del_p.L238fs|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Del_p.L594fs|RNF6_ENST00000346166.3_Frame_Shift_Del_p.L594fs	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	594					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCATTTAGTAAAAAAAAGTG	0.403													9	666	---	---	---	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475													8	319	---	---	---	---					
KIAA1704	0	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													10	1054	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													9	435	---	---	---	---					
PIBF1	10464	broad.mit.edu	37	13	73357634	73357634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:73357634delA	ENST00000326291.6	+	2	365	c.27delA	c.(25-27)tcfs	p.S9fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	9						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAAAGGAGTCAAAAAAAGTGA	0.303													7	623	---	---	---	---					
ERCC5	2073	broad.mit.edu	37	13	103524611	103524612	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:103524611_103524612insA	ENST00000355739.4	+	13	4165_4166	c.2742_2743insA	c.(2740-2745)gtaaaafs	p.VK914fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.K1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.VK147fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACACCAAAGTGAAAAAAAAATT	0.431			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	323	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	253	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:39746242_39746243insT	ENST00000553728.1	+	6	1986_1987	c.1773_1774insT	c.(1771-1776)ctttttfs	p.LF591fs	RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR																							TTGCTGTTCTCTTTTTTTTGTG	0.371													9	562	---	---	---	---					
RP11-973N13.4	0	broad.mit.edu	37	14	65002366	65002367	+	RNA	INS	-	-	T	rs45532333		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:65002366_65002367insT	ENST00000554918.1	-	0	52																											GTAAGATCTGATTTTTTTTTCA	0.436													7	100	---	---	---	---					
CTD-2540L5.5	0	broad.mit.edu	37	14	71067484	71067504	+	RNA	DEL	GGCAGGAGAGAGGCAGGGGGT	GGCAGGAGAGAGGCAGGGGGT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	ENST00000553982.1	-	0	294																											gggcggggcgggcaggagagaggcagggggtggaggtgcgg	0.710													12	23	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													11	691	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													7	496	---	---	---	---					
RMDN3	55177	broad.mit.edu	37	15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)tgcfs	p.C386fs	RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR					regulator of microtubule dynamics 3																		GGCTGTAGCAGTTTTTTTTTCT	0.450													7	374	---	---	---	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2055)tttfs	p.F685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													7	480	---	---	---	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					8	623	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													10	281	---	---	---	---					
PER1	5187	broad.mit.edu	37	17	8049954	8049955	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:8049954_8049955insT	ENST00000317276.4	-	15	2101_2102	c.1864_1865insA	c.(1864-1866)ctgfs	p.L622fs	PER1_ENST00000354903.5_Frame_Shift_Ins_p.L606fs|PER1_ENST00000581082.1_Frame_Shift_Ins_p.L602fs	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	622	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTAGGAGCAGCTGGAGGCTTCT	0.639			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					41	241	---	---	---	---					
TIAF1	9220	broad.mit.edu	37	17	27401055	27401056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:27401055_27401056delCA	ENST00000359450.6	-	1	4819_4820	c.162_163delTG	c.(160-165)tggafs	p.CG54fs	MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Frame_Shift_Del_p.CG54fs|MYO18A_ENST00000529578.1_5'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	54					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGGATGGTCCACACACACACT	0.564													7	376	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:56387404_56387406delTCC	ENST00000355701.3	-	21	4683_4685	c.3813_3815delGGA	c.(3811-3816)gaa>ga	p.EE1273del	BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1273	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													10	346	---	---	---	---					
ROCK1	6093	broad.mit.edu	37	18	18567059	18567059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:18567059delT	ENST00000399799.1	-	19	3096	c.2156delA	c.(2155-2157)agfs	p.K719fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	719	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTTTCAGCTTTTTTTCCAT	0.368													7	499	---	---	---	---					
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													8	243	---	---	---	---					
LINC00661	0	broad.mit.edu	37	19	16133577	16133601	+	RNA	DEL	TCCCTGCATCCCCTCCTGCCCACAC	TCCCTGCATCCCCTCCTGCCCACAC	-	rs72075779		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:16133577_16133601delTCCCTGCATCCCCTCCTGCCCACAC	ENST00000549354.1	+	0	549					NR_026828.1																						TGCCCCACAGTCCCTGCATCCCCTCCTGCCCACACTCCCTGCATC	0.640													2	4	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													12	1092	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													10	91	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													7	343	---	---	---	---					
GDAP1L1	78997	broad.mit.edu	37	20	42907925	42907926	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:42907925_42907926insA	ENST00000342560.5	+	6	1177_1178	c.1089_1090insA	c.(1087-1092)aaaaaafs	p.KK363fs	GDAP1L1_ENST00000537864.1_Frame_Shift_Ins_p.KK171fs	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	363										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTACCTCAAGAAAAAATACAT	0.559													9	683	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									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)		catcaccaccaccaccatcacc	0.579													8	57	---	---	---	---					
MORC3	23515	broad.mit.edu	37	21	37741376	37741378	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:37741376_37741378delTGA	ENST00000400485.1	+	15	1786_1788	c.1710_1712delTGA	c.(1708-1713)ggt>gg	p.GD570del	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	570					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTATAAAGGTGATGATGATGAT	0.365													8	571	---	---	---	---					
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)cgc>cCAGCTGCTGCGCCCCgc	p.48_49insPAAAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	48	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688													9	146	---	---	---	---					
MGC20647	0	broad.mit.edu	37	22	30642384	30642386	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr22:30642384_30642386delGAG	ENST00000593843.1	+	2	200_202	c.200_202delGAG	c.(199-204)cga>c	p.RG67del	LIF_ENST00000403987.3_Intron|LIF_ENST00000249075.3_Intron																							TGTCCggagcgaggaggaggagg	0.606													3	6	---	---	---	---					
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr22:40816887_40816889delTGC	ENST00000396617.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cac>ca	p.QH281del	MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.660			T	RBM15	acute megakaryocytic leukemia								7	190	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													9	31	---	---	---	---					
UTY	7404	broad.mit.edu	37	Y	15448217	15448218	+	Splice_Site	INS	-	-	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000362096.4_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													8	73	---	---	---	---