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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
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	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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)agcfs	p.S622fs	PER1_ENST00000354903.5_Frame_Shift_Ins_p.S606fs|PER1_ENST00000581082.1_Frame_Shift_Ins_p.S602fs	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		NA	T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					False	1	False	17:8049954	0
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	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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)ctgfs	p.L113fs	RPL15_ENST00000435882.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000415719.1_Frame_Shift_Ins_p.L113fs	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		NA											False	1	False	3:23960714	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:70819981delG	ENST00000370944.4	-	1	424	c.111delC	c.(109-111)accfs	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		NA											False	2	True	1:70819981	0
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000392250.2_Missense_Mutation_p.R649W|DPY19L3_ENST00000586987.1_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	0.632		NA											False	0	True	19:32971419	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	NA											NA						TTTGCCGCCGCGCTGCGCAAG	0.766		NA											False	0	False	16:85667700	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.373		NA											False	0	False	6:143806383	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000446842.2_Missense_Mutation_p.T7120M|DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000370769.4_Missense_Mutation_p.T7446M|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.T7335M|DST_ENST00000244364.6_Missense_Mutation_p.T5045M			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	0.443		NA											False	0	False	6:56325048	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.682		NA											False	0	True	6:36710085	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.348		NA											False	0	True	12:108091262	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000503865.1_Silent_p.L197L|SEMA6A_ENST00000282394.6_Silent_p.L295L|SEMA6A_ENST00000513137.1_Silent_p.L245L|SEMA6A_ENST00000510263.1_Silent_p.L818L	NM_020796.3	NP_065847	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	0.662		NA											False	0	True	5:115782948	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_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	0.458		NA											False	0	False	7:148484186	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	NA											NA						GGGTGCCAAACGCCATTGGCT	0.468		NA											False	0	True	13:42273281	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.423		NA											False	0	False	4:152626389	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	NA								p.R2228H(1)			NA						GTGATCTACCGTTATGACGGC	0.463		NA											False	0	False	4:183714508	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R66C|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R63C|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R66C|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				NA						TTCTCATGGCGGAACTGCCAG	0.667		NA											False	0	False	3:194790821	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000584787.1_Silent_p.L247L|ZNF521_ENST00000538137.2_Silent_p.L467L	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	0.463		NA	T	PAX5	ALL								False	0	False	18:22806481	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L|ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000282292.4_Missense_Mutation_p.R41L			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	0.527		NA											False	0	False	19:58016113	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.408		NA											False	0	True	X:17745920	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.647		NA											False	0	True	10:105349367	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.602		NA											False	0	False	11:1096405	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.662		NA											False	0	False	15:75977834	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1768*	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	0.383		NA						Non-homologous end-joining					False	0	True	8:48790343	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000379853.2_Missense_Mutation_p.F255L|ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L	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	0.443		NA											False	0	True	8:39626980	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000542635.1_Silent_p.R862R|SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000526861.1_Silent_p.R862R|SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000533791.1_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	0.478		NA											False	0	False	17:33767722	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:15655075T>C	ENST00000269703.3	+	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	NA						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	0.542		NA											False	0	False	19:15655075	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.488		NA											False	0	True	1:152882593	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.622		NA											False	0	False	2:128335762	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000383374.2_Missense_Mutation_p.Q134E|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q135E|CCDC125_ENST00000460090.1_Intron			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	0.333		NA											False	0	True	5:68606995	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000442504.1_Missense_Mutation_p.R66C|ELMO1_ENST00000448602.1_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	0.363		NA											False	0	False	7:37311484	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.697		NA											False	0	True	13:110436560	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000337817.5_Missense_Mutation_p.I390V|STIL_ENST00000371877.3_Missense_Mutation_p.I390V|STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000396221.2_Missense_Mutation_p.I390V	NM_001282936.1	NP_001269865.1	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	0.388		NA											False	0	False	1:47748097	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000332211.6_Missense_Mutation_p.T113A|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	0.239		NA											False	0	False	10:76979095	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.637		NA											False	0	False	1:3511972	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.522		NA											False	0	False	9:79323756	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000398774.2_Missense_Mutation_p.S3974L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L	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	0.607		NA											False	0	False	8:144991972	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.473		NA											False	0	False	1:237780691	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	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	0.478		NA											False	0	False	5:121409724	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	NA											NA						AGTGTTTTCATAAATTCTTCT	0.353		NA											False	0	True	3:57616512	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.308		NA											False	0	False	3:121526279	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:88568385G>A	ENST00000266712.6	+	9	1421	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I		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	0.318		NA											False	0	False	12:88568385	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E|MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E|MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E	NM_001282663.1|NM_014632.2	NP_001269592.1|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	0.517		NA											False	0	False	11:12247727	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000361713.1_Missense_Mutation_p.E819G|ANKRD30A_ENST00000602533.1_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	0.328		NA											False	0	False	10:37486218	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000375985.4_Missense_Mutation_p.G365R|MYLK2_ENST00000468730.1_3'UTR			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	0.587		NA											False	0	False	20:30414610	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	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	0.672		NA											False	0	True	16:2161454	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.512		NA											False	0	False	20:6759506	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.597		NA											False	0	False	18:59217416	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000392274.3_Missense_Mutation_p.D390H|FCRL2_ENST00000469986.1_Missense_Mutation_p.D137H|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	0.443		NA											False	0	False	1:157736756	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.453		NA											False	0	True	9:96847575	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000343508.3_Silent_p.G2244G|CSMD3_ENST00000352409.3_Silent_p.G2214G	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	0.348		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113349048	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:128626895A>G	ENST00000335251.6	+	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	NA										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	0.448		NA											False	0	False	4:128626895	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.448		NA											False	0	False	17:18220237	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000332647.4_Silent_p.P185P|FAM133A_ENST00000355813.5_Silent_p.P185P|FAM133A_ENST00000322139.4_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	0.368		NA											False	0	True	X:92964973	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:134084224C>G	ENST00000264360.5	+	4	3716	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	NA					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	0.522		NA											False	0	False	4:134084224	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.567		NA											False	0	True	1:245772663	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.662		NA											False	0	True	16:2024811	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.468		NA											False	0	False	2:125671709	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P|WIPF1_ENST00000272746.5_Silent_p.P316P|WIPF1_ENST00000409415.3_Silent_p.P316P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P316P	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	0.662		NA											False	0	True	2:175436585	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.493		NA											False	0	False	5:80640798	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000370163.3_Silent_p.P1471P|AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361522.4_Silent_p.P1454P	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	0.353		NA											False	0	True	1:100382219	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_024501.2	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	0.557		NA											False	0	False	2:177054576	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:26188829G>A	ENST00000385250.1	-	0	85					NR_030386.1					NA											NA						AGGCATGGCCGGGCCACCAGG	0.756		NA											False	0	True	20:26188829	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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				NA						AGGGCAAGTTCTCTTTGGTTC	0.408		NA											False	0	False	6:47847617	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.458		NA											False	0	False	11:58126293	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000300278.4_Silent_p.P362P|SON_ENST00000381679.4_Silent_p.P362P|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.P362P	NM_138927.1	NP_620305	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	0.587		NA											False	0	False	21:34922623	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000402622.2_Silent_p.T703T|KCNQ5_ENST00000370398.1_Silent_p.T693T|KCNQ5_ENST00000403813.2_Silent_p.T684T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000355635.3_Silent_p.T694T|KCNQ5_ENST00000355194.4_Silent_p.T693T	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	0.502		NA											False	0	False	6:73904417	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000367767.1_Missense_Mutation_p.R56S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_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	0.363		NA											False	0	False	1:170015874	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.383		NA											False	0	False	8:99468195	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000344733.5_Silent_p.R620R|RGS12_ENST00000382788.3_Silent_p.R620R|RGS12_ENST00000543385.1_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	0.582		NA											False	0	False	4:3319755	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000332245.8_Missense_Mutation_p.Y82H|KLHDC3_ENST00000244670.8_Intron	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	0.512		NA											False	0	False	6:42985680	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.478		NA	T	NUP98	AML*								False	0	False	20:39750710	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:70591817C>T	ENST00000260126.4	-	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	NA						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	0.453		NA											False	0	False	8:70591817	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.577		NA											False	0	False	1:208390894	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.328		NA											False	0	False	1:248513002	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000393244.3_Silent_p.A642A|SPATA20_ENST00000356488.4_Silent_p.A686A|SPATA20_ENST00000511937.1_3'UTR	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	0.647		NA											False	0	False	17:48631760	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000377533.3_Missense_Mutation_p.G498R|SCRIB_ENST00000320476.3_Missense_Mutation_p.G579R	NM_182706.4	NP_874365	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	0.642		NA											False	0	True	8:144891159	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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				NA				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGGTTCCTGCCCAGAAAGC	0.552		NA											False	0	True	3:40503613	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.388		NA											False	0	False	12:55688832	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.512		NA											False	0	True	20:30125989	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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				NA										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	0.622		NA											False	0	False	5:140720214	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000527598.1_Silent_p.L263L|ARHGAP20_ENST00000524756.1_Silent_p.L276L|ARHGAP20_ENST00000533353.1_Silent_p.L273L|ARHGAP20_ENST00000357139.3_Silent_p.L273L|ARHGAP20_ENST00000528829.1_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	0.537		NA											False	0	True	11:110477352	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000542749.1_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	0.657		NA											False	0	False	12:123482085	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_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	0.577		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)			False	0	True	17:7577532	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.313		NA											False	0	False	5:118506551	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR			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	0.294		NA											False	0	False	1:235944227	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:62788593A>T	ENST00000582986.1	-	0	2016					NR_024386.1					NA											NA						AGACGCGTTCACCATCTGCAG	0.617		NA											False	0	False	17:62788593	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000392149.2_Missense_Mutation_p.G612E|ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E	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	0.408		NA											False	0	True	19:37903725	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.557		NA											False	0	True	11:66358359	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000424196.1_Missense_Mutation_p.E1017K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E923K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1010K|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	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	0.577		NA											False	0	False	3:184043334	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.607		NA											False	0	False	11:133807360	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000581580.1_Missense_Mutation_p.A467V|DCC_ENST00000412726.1_Missense_Mutation_p.A660V	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	0.333		NA											False	0	True	18:50912488	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.403		NA											False	0	True	5:80376464	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.517		NA											False	0	False	5:121188177	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.532		NA											False	0	True	13:27259854	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.388		NA											False	0	False	3:132407536	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.453		NA											False	0	False	21:28315795	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E	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	0.418		NA											False	0	True	19:52448407	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L166I	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	0.393		NA	T	"""ALK, TFE3"""	"""ALCL, renal """								False	0	False	17:57725004	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000409672.1_Nonsense_Mutation_p.R597*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*|SCN9A_ENST00000409435.1_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	0.542		NA											False	0	False	2:167141148	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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)	NA											NA						TCTCAGTCCTGCACAGATGTG	0.448		NA											False	0	False	16:68900986	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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				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	0.627		NA											False	0	False	14:64854981	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000354675.6_Missense_Mutation_p.S54L|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.S47L|AKAP12_ENST00000253332.1_Missense_Mutation_p.S152L	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	0.423		NA											False	0	False	6:151669981	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.657		NA											False	0	False	9:136508616	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.572		NA											False	0	True	2:96933201	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.517		NA											False	0	False	13:29600278	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	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.438		NA	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"""								False	0	False	12:12037406	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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	0.348	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)			False	0	False	12:25398284	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:173356152G>A	ENST00000375221.2	+	24	3209		c.e24-1		ITGA6_ENST00000409532.1_Splice_Site|ITGA6_ENST00000343713.4_Splice_Site|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000264106.6_Splice_Site			P23229	ITA6_HUMAN	integrin, alpha 6	NA					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	0.463		NA											False	0	False	2:173356152	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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:65271986T>A	ENST00000534336.1	+	0	6754					NR_002819.2					NA											NA						TGATAAAGGCTGAGTGTTGAG	0.368		NA											False	0	False	11:65271986	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000510413.1_Nonsense_Mutation_p.R2777*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.R2789*|LRBA_ENST00000503716.1_5'UTR			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	0.547		NA											False	0	False	4:151199141	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H|BMP1_ENST00000306349.8_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	0.612		NA											False	0	False	8:22037971	0
BRINP2	57795	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	746								p.R746W(1)			NA						CTGCTTGCTCCGGCATCGGCT	0.557		NA											False	0	False	1:177250548	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	0.428		NA											False	0	False	18:30322007	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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	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	0.527		NA											False	0	True	1:43783580	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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	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	PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q			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	0.483		NA											False	0	False	6:13273094	0
