Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ATP13A5	344905	broad.mit.edu	37	3	193081170	193081170	+	Splice_Site	SNP	T	T	A	rs150024258		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:193081170T>A	ENST00000342358.4	-	3	356	c.237_splice	c.e3-1	p.D80_splice		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	80					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.D80V(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGAAATTCGTCCTGGAAAAG	0.403000													9	39					0	0	0.000673	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501869	140501869	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:140501869C>G	ENST00000194152.1	+	1	289	c.289C>G	c.(289-291)Cct>Gct	p.P97A		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		97	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.P97A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTGTGGTCCTATTGAACC	0.483000													20	58					0	0	0.002780	0	0
TEX15	56154	broad.mit.edu	37	8	30704595	30704595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:30704595C>T	ENST00000256246.2	-	1	2013	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	647								p.E647K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTATCAATTTCACAATCAGAA	0.299000													15	28					0	0	0.002450	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90578701	90578701	+	RNA	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:90578701C>G	ENST00000551025.1	+	0	7129							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.P1898A(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAAGGCAACCCCAGGGATTAA	0.398000													4	18					0	0	0.000248	0	0
ABI2	10152	broad.mit.edu	37	2	204267336	204267336	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:204267336C>G	ENST00000295851.4	+	9	1367	c.1071C>G	c.(1069-1071)gcC>gcG	p.A357A	ABI2_ENST00000261018.7_Silent_p.A143A|ABI2_ENST00000261016.6_Silent_p.A245A|ABI2_ENST00000430574.1_3'UTR|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000430418.1_Silent_p.A302A|ABI2_ENST00000261017.5_Silent_p.A290A|ABI2_ENST00000424558.1_Silent_p.A351A|ABI2_ENST00000422511.2_Silent_p.A324A			Q9NYB9	ABI2_HUMAN	abl-interactor 2	357	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.A290A(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						ATAGGCCTGCCTCTCGCCATA	0.423000													10	39					0	0	0.000673	0	0
IRF1	3659	broad.mit.edu	37	5	131822793	131822793	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:131822793C>G	ENST00000245414.4	-	4	475	c.217G>C	c.(217-219)Gat>Cat	p.D73H	IRF1_ENST00000405885.2_Missense_Mutation_p.D73H|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	73					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		p.D73H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GTCTTGGGATCTGGCTCCTTT	0.567000													5	324					0	0	0.000602	0	0
CLRN3	119467	broad.mit.edu	37	10	129676623	129676623	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:129676623G>A	ENST00000368671.3	-	3	633	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	157						integral to membrane		p.S157S(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAACTCTTCGGAGAGTTGGT	0.468000													11	45					0	0	0.000673	0	0
COL9A1	1297	broad.mit.edu	37	6	70944631	70944631	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:70944631C>G	ENST00000357250.6	-	34	2283	c.2125G>C	c.(2125-2127)Ggg>Cgg	p.G709R	COL9A1_ENST00000320755.7_Missense_Mutation_p.G466R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G466R|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	709	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G466R(1)|p.G709R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGTTCCCCAGGATTACCT	0.522000													8	29					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237617733	237617733	+	Silent	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:237617733C>A	ENST00000366574.2	+	15	1652	c.1335C>A	c.(1333-1335)gtC>gtA	p.V445V	RYR2_ENST00000542537.1_Silent_p.V429V|RYR2_ENST00000360064.6_Silent_p.V443V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	445					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	p.V443V(1)		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)			CTTCCACAGTCGATTTGCCTA	0.423000													12	50					7.93312e-07	1.28406e-06	0.002450	1	0
TARSL2	123283	broad.mit.edu	37	15	102241329	102241329	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:102241329C>G	ENST00000335968.3	-	10	1496	c.1280G>C	c.(1279-1281)aGa>aCa	p.R427T		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	427					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.R427T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAAGGCTCCTCTGGGAAGGAA	0.303000													3	60					0	0	0.004672	0	0
SLC14A1	6563	broad.mit.edu	37	18	43329823	43329823	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:43329823C>G	ENST00000321925.4	+	10	1309	c.1077C>G	c.(1075-1077)atC>atG	p.I359M	SLC14A1_ENST00000591541.1_Missense_Mutation_p.I63M|SLC14A1_ENST00000589700.1_3'UTR|SLC14A1_ENST00000535474.1_Missense_Mutation_p.I227M|SLC14A1_ENST00000402943.2_Missense_Mutation_p.I254M|SLC14A1_ENST00000586142.1_Missense_Mutation_p.I359M|SLC14A1_ENST00000415427.3_Missense_Mutation_p.I415M|SLC14A1_ENST00000502059.2_Missense_Mutation_p.I251M|SLC14A1_ENST00000436407.3_Missense_Mutation_p.I415M	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	359						integral to plasma membrane	urea transmembrane transporter activity	p.I359M(1)|p.I415M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ATTCCAACATCTACAAGATGC	0.458000													3	113					0	0	0.004672	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560190	19560190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:19560190C>G	ENST00000397821.3	-	16	2035	c.1745G>C	c.(1744-1746)gGa>gCa	p.G582A	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.G321A|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G545A|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.G344A	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	582					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	p.G582A(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGCTCTGTGTCCAGCTGTTCC	0.667000													14	32					0	0	0.002450	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850179	58850179	+	Silent	SNP	G	G	A	rs139283341	byFrequency	TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567000													8	89					0	0	0.004482	0	0
NACC1	112939	broad.mit.edu	37	19	13249158	13249158	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:13249158C>T	ENST00000292431.4	+	6	1648	c.1522C>T	c.(1522-1524)Cat>Tat	p.H508Y		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	508					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		p.E507_H508>DY(1)		endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GGGTGTGGAGCATGGCTTCGA	0.647000													12	77					0	0	0.001368	0	0
GRIK4	2900	broad.mit.edu	37	11	120833308	120833308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:120833308G>T	ENST00000527524.2	+	18	2471	c.2184G>T	c.(2182-2184)gaG>gaT	p.E728D	GRIK4_ENST00000438375.2_Missense_Mutation_p.E728D			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	728					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E728D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCATGAACGAGTACTATCGGC	0.557000													11	57					3.07112e-06	4.83597e-06	0.000978	1	0
PAXIP1	22976	broad.mit.edu	37	7	154738478	154738478	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:154738478T>C	ENST00000404141.1	-	18	3122	c.2968A>G	c.(2968-2970)Act>Gct	p.T990A	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.T990A			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	990	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.T956A(1)|p.T990A(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCCTTCATAGTGGAAAGACTT	0.383000													4	17					0	0	0.000602	0	0
PON3	5446	broad.mit.edu	37	7	94989416	94989416	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:94989416C>T	ENST00000265627.5	-	9	944	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.L241L	NM_000940.2	NP_000931.1			paraoxonase 3									p.E312K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CTGGGCTTCTCAGACAAAACA	0.453000													11	121					0	0	0.001368	0	0
IRX6	79190	broad.mit.edu	37	16	55361654	55361654	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:55361654C>T	ENST00000290552.7	+	4	1902	c.570C>T	c.(568-570)ctC>ctT	p.L190L	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L190L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGATGACCCTCACCCAGGTGT	0.572000													7	76					0	0	0.004482	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86893267	86893267	+	Silent	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:86893267G>C	ENST00000395184.1	+	6	1144	c.678G>C	c.(676-678)gcG>gcC	p.A226A	ARHGAP24_ENST00000503995.1_Silent_p.A226A|ARHGAP24_ENST00000395183.2_Silent_p.A131A|ARHGAP24_ENST00000264343.4_Silent_p.A133A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	226	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.A133A(2)|p.A226A(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTCCTTATGCGAAGTATGAAG	0.408000													7	85					0	0	0.004482	0	0
MYO7A	4647	broad.mit.edu	37	11	76885842	76885842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:76885842C>A	ENST00000409709.3	+	17	2248	c.1976C>A	c.(1975-1977)tCa>tAa	p.S659*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.S659*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.S659*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.S648*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	659	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S659*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGCGGTACTCAGGAATGATG	0.637000													3	11					0.004672	0.00703834	0.004672	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057941	46057941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr21:46057941T>A	ENST00000380095.1	+	1	669	c.607T>A	c.(607-609)Tgc>Agc	p.C203S	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	203	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.C203S(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GTCCACCTGCTGCGTGCCCGT	0.692000													35	75					0	0	0.006230	0	0
MTOR	2475	broad.mit.edu	37	1	11227550	11227550	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:11227550C>G	ENST00000361445.4	-	29	4354	c.4278G>C	c.(4276-4278)ccG>ccC	p.P1426P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1426	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.P1426P(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCGCTGCCTCCGGCTGCTGTA	0.478000													7	177					0	0	0.004482	0	0
CHD9	80205	broad.mit.edu	37	16	53348933	53348933	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:53348933G>A	ENST00000566029.1	+	36	7722	c.7513G>A	c.(7513-7515)Gaa>Aaa	p.E2505K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2506K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2521K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2505K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2521					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.E2522K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGGTTATGTGGAAGATTTGGG	0.358000													4	56					0	0	0.000248	0	0
SLC28A3	64078	broad.mit.edu	37	9	86903009	86903009	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr9:86903009C>G	ENST00000376238.4	-	12	1283	c.1234G>C	c.(1234-1236)Gaa>Caa	p.E412Q	SLC28A3_ENST00000537648.1_Missense_Mutation_p.E343Q|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	412					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.E412Q(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTAGGTTTTTCTGTCTCAGGC	0.463000													5	130					0	0	0.000602	0	0
KLHL13	90293	broad.mit.edu	37	X	117079539	117079539	+	Splice_Site	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:117079539C>G	ENST00000262820.3	-	2	1008		c.e2-1		KLHL13_ENST00000540167.1_Splice_Site|KLHL13_ENST00000371878.1_Splice_Site|KLHL13_ENST00000545703.1_Splice_Site|KLHL13_ENST00000539496.1_Splice_Site|KLHL13_ENST00000371876.1_5'UTR|KLHL13_ENST00000469946.1_Splice_Site|KLHL13_ENST00000541812.1_Splice_Site|KLHL13_ENST00000371882.1_Splice_Site	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13						cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CACGAGAGATCTGAAAGTTTT	0.378000													5	13					0	0	0.001168	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569134	53569134	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:53569134C>T	ENST00000025008.5	-	15	3778	c.3255G>A	c.(3253-3255)caG>caA	p.Q1085Q	RB1CC1_ENST00000539297.1_Silent_p.Q1085Q|RB1CC1_ENST00000435644.2_Silent_p.Q1085Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1085					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.Q1085Q(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGGTCTCCTTCTGCTGGGCTC	0.358000													15	69					0	0	0.003163	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187588	37187588	+	RNA	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:37187588C>T	ENST00000425901.2	+	0	1430					NR_033753.2																						TCCAACCATTCAGGAGACCCC	0.507000													10	164					0	0	0.000673	0	0
FAT4	79633	broad.mit.edu	37	4	126372722	126372722	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:126372722C>G	ENST00000394329.3	+	9	10564	c.10551C>G	c.(10549-10551)gtC>gtG	p.V3517V	FAT4_ENST00000335110.5_Silent_p.V1815V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3517	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V3517V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGAGAAGTCATGGAAAACA	0.483000													9	178					0	0	0.006214	0	0
USH2A	7399	broad.mit.edu	37	1	216062258	216062258	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:216062258G>A	ENST00000366943.2	-	41	8119	c.7733C>T	c.(7732-7734)aCt>aTt	p.T2578I	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T2578I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2578	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T2578I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTCCAGGAGTTCTCAAGTA	0.408000										HNSCC(13;0.011)			14	104					0	0	0.004007	0	0
POFUT1	23509	broad.mit.edu	37	20	30804435	30804435	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr20:30804435C>T	ENST00000375749.3	+	4	515	c.453C>T	c.(451-453)ttC>ttT	p.F151F	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Silent_p.F151F|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	151					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	p.F151F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGGCCCATTCTGGGATCAGT	0.507000													11	100					0	0	0.001368	0	0
IL5RA	3568	broad.mit.edu	37	3	3139822	3139822	+	Splice_Site	SNP	T	T	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:3139822T>C	ENST00000446632.2	-	6	1094	c.521_splice	c.e6+1	p.R174_splice	IL5RA_ENST00000418488.2_Splice_Site_p.R174_splice|IL5RA_ENST00000311981.8_Splice_Site_p.R174_splice|IL5RA_ENST00000256452.3_Splice_Site_p.R174_splice|IL5RA_ENST00000438560.1_Splice_Site_p.R174_splice|IL5RA_ENST00000456302.1_Splice_Site_p.R174_splice|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Splice_Site_p.R174_splice|IL5RA_ENST00000383846.1_Splice_Site_p.R174_splice	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	174					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.R174G(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGTACTAACCTATAGTAGAGA	0.418000													15	58					0	0	0.004007	0	0
SNRPN	6638	broad.mit.edu	37	15	25221561	25221561	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:25221561G>T	ENST00000444203.2	+	4	1316	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	SNRPN_ENST00000400100.1_Missense_Mutation_p.D89Y|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.D89Y|SNRPN_ENST00000554227.2_Missense_Mutation_p.D93Y|SNRPN_ENST00000346403.6_Missense_Mutation_p.D89Y|SNRPN_ENST00000400097.1_Missense_Mutation_p.D89Y|SNRPN_ENST00000390687.4_Missense_Mutation_p.D89Y|SNRPN_ENST00000400098.1_Missense_Mutation_p.D89Y			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	89					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.D89Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACCCCCCAAAGATGTAAGGAA	0.493000									Prader-Willi syndrome				9	43					1.12685e-05	1.76641e-05	0.004482	1	0
RP1L1	94137	broad.mit.edu	37	8	10464923	10464923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:10464923C>T	ENST00000382483.3	-	4	6908	c.6685G>A	c.(6685-6687)Gag>Aag	p.E2229K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2229					intracellular signal transduction			p.E2229K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCGGGGTCTCTACGCCTTCT	0.602000													15	147					0	0	0.004007	0	0
RGS22	26166	broad.mit.edu	37	8	100994288	100994288	+	Silent	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:100994288A>G	ENST00000360863.6	-	22	3431	c.3237T>C	c.(3235-3237)atT>atC	p.I1079I	RGS22_ENST00000523437.1_Silent_p.I1067I|RGS22_ENST00000523287.1_Silent_p.I898I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1079	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.I1079I(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGCAGTTGATAATAGTTGTAA	0.373000													30	87					0	0	0.007291	0	0
NAV1	89796	broad.mit.edu	37	1	201781101	201781101	+	Splice_Site	SNP	A	A	G	rs148645972		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:201781101A>G	ENST00000367296.4	+	26	5443	c.5024_splice	c.e26+1	p.R1675_splice	NAV1_ENST00000367297.4_Splice_Site_p.R1667_splice|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Splice_Site_p.R1628_splice|NAV1_ENST00000367295.1_Splice_Site_p.R1281_splice|NAV1_ENST00000367300.3_Splice_Site_p.R1615_splice|NAV1_ENST00000295624.6_Splice_Site_p.R1672_splice	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1675					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.R1672G(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTTGAGCTTCAGGTAAGACCT	0.473000													4	109					0	0	0.000602	0	0
PSKH2	85481	broad.mit.edu	37	8	87076709	87076709	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:87076709G>A	ENST00000276616.2	-	2	411	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	113	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R113W(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTAACCCGCCGCAGGACGCTC	0.507000													13	90					0	0	0.001216	0	0
ODAM	54959	broad.mit.edu	37	4	71066318	71066318	+	Splice_Site	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:71066318G>T	ENST00000396094.2	+	6	576	c.528_splice	c.e6+1	p.Q176_splice		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	176	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		p.Q176H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATGAGGAGCAGGTACTGCAAA	0.358000													10	38					0.000978159	0.00148646	0.000978	1	0
ZNF623	9831	broad.mit.edu	37	8	144733502	144733502	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:144733502A>G	ENST00000501748.2	+	1	1549	c.1460A>G	c.(1459-1461)tAt>tGt	p.Y487C	ZNF623_ENST00000526926.1_Missense_Mutation_p.Y447C|ZNF623_ENST00000458270.2_Missense_Mutation_p.Y447C	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y487C(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGAAGCTCTATGAATGTAGT	0.403000													27	65					0	0	0.004656	0	0
ZSCAN32	54925	broad.mit.edu	37	16	3433615	3433615	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:3433615C>T	ENST00000396852.4	-	7	1638	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.G232E|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.G155E|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.G444E					zinc finger and SCAN domain containing 32									p.G232E(1)									CCAATAAACTCCTCTGGACTT	0.403000													6	82					0	0	0.001168	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569287	2569287	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:2569287G>A	ENST00000564543.1	+	2	1151	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ATP6V0C_ENST00000330398.4_Missense_Mutation_p.E50K|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.E7K|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.G32E|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.E7K														p.E50K(1)									CATGCGGCCGGAGCAGATCAT	0.622000													3	30					0	0	0.000248	0	0
ELOVL4	6785	broad.mit.edu	37	6	80636031	80636031	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:80636031A>C	ENST00000369816.4	-	2	468	c.168T>G	c.(166-168)taT>taG	p.Y56*		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	56					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.Y56*(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CAAACAGGAGATAAAGAGTGC	0.398000													4	40					0	0	0.000248	0	0
FAM126B	285172	broad.mit.edu	37	2	201873785	201873785	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:201873785C>G	ENST00000418596.2	-	7	628	c.441G>C	c.(439-441)ttG>ttC	p.L147F	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	147						intracellular		p.L147F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCCCTTCTGTCAAAGCCATGG	0.378000													8	83					0	0	0.004482	0	0
IGSF1	3547	broad.mit.edu	37	X	130420592	130420592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:130420592C>A	ENST00000370904.1	-	9	967	c.57G>T	c.(55-57)ttG>ttT	p.L19F	IGSF1_ENST00000370900.1_Missense_Mutation_p.L19F|IGSF1_ENST00000361420.3_Missense_Mutation_p.L19F|IGSF1_ENST00000370910.1_Missense_Mutation_p.L19F|IGSF1_ENST00000370903.3_Missense_Mutation_p.L19F|IGSF1_ENST00000370901.4_Missense_Mutation_p.L19F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	19					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.L19F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGCAAAAGAGCAAAACAGTGA	0.527000													5	41					0.000602214	0.000919169	0.000602	1	0
TNFSF4	7292	broad.mit.edu	37	1	173155820	173155820	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:173155820C>T	ENST00000281834.3	-	3	523	c.387G>A	c.(385-387)ctG>ctA	p.L129L	TNFSF4_ENST00000367718.1_Silent_p.L79L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	129					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	p.L129L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TGACCTTCTTCAGTTGGAAGA	0.473000													11	42					0	0	0.000978	0	0
ABCA6	23460	broad.mit.edu	37	17	67079099	67079099	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:67079099C>G	ENST00000284425.2	-	36	4705	c.4531G>C	c.(4531-4533)Gag>Cag	p.E1511Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1511	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.E1511Q(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTTTAGCTCTAGAATGTAA	0.433000													25	321					0	0	0.005443	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819573	50819573	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:50819573G>A	ENST00000374115.3	+	1	1227	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	263					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A263T(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTGGCAGTGGCCAAACCCTT	0.662000													3	16					0	0	0.004672	0	0
GRIA4	2893	broad.mit.edu	37	11	105795124	105795124	+	Splice_Site	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:105795124G>C	ENST00000393127.2	+	12	1922		c.e12-1		GRIA4_ENST00000525187.1_Splice_Site|GRIA4_ENST00000282499.5_Splice_Site|GRIA4_ENST00000530497.1_Splice_Site	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTCTCTTATAGAAAGCAGAGA	0.383000													11	100					0	0	0.001368	0	0
PRC1	9055	broad.mit.edu	37	15	91512758	91512758	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:91512758C>G	ENST00000361188.5	-	13	2879	c.1668G>C	c.(1666-1668)ctG>ctC	p.L556L	PRC1_ENST00000394249.3_Silent_p.L556L|PRC1_ENST00000442656.2_Silent_p.L515L|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.L556L|PRC1-AS1_ENST00000556200.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	556	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.L556L(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACCCACCACTCAGGATGCTGC	0.547000													7	96					0	0	0.004482	0	0
NACC1	112939	broad.mit.edu	37	19	13249157	13249157	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:13249157G>T	ENST00000292431.4	+	6	1647	c.1521G>T	c.(1519-1521)gaG>gaT	p.E507D		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	507					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		p.E507_H508>DY(1)		endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGGTGTGGAGCATGGCTTCG	0.647000													12	80					0.00010058	0.000155564	0.001368	1	0
SDK1	221935	broad.mit.edu	37	7	4273011	4273011	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:4273011G>A	ENST00000404826.2	+	41	6091	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	SDK1_ENST00000389531.3_Silent_p.A1964A|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1984	Fibronectin type-III 13.				cell adhesion	integral to membrane		p.A1984A(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAATGAGGCGGGCTACGGGG	0.617000													8	108					0	0	0.004482	0	0
OR8D2	283160	broad.mit.edu	37	11	124189796	124189796	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:124189796G>C	ENST00000357438.2	-	1	388	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAATAAAGTTGAGTAATGCAT	0.408000													3	48					0	0	0.004672	0	0
TEX35	84066	broad.mit.edu	37	1	178489911	178489911	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:178489911G>C	ENST00000367641.3	+	7	504	c.445G>C	c.(445-447)Gtc>Ctc	p.V149L	TEX35_ENST00000367643.3_Missense_Mutation_p.V149L|TEX35_ENST00000367639.1_Missense_Mutation_p.V157L|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Missense_Mutation_p.V73L|TEX35_ENST00000319416.2_Missense_Mutation_p.V149L					testis expressed 35									p.V149L(2)									AGCCAGTGGAGTCAATGGAGC	0.527000													3	44					0	0	0.000248	0	0
OR2H2	7932	broad.mit.edu	37	6	29556336	29556336	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:29556336G>C	ENST00000383640.2	+	1	654	c.615G>C	c.(613-615)ttG>ttC	p.L205F	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	205					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L205F(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTTCATCTTGGTTGTGCCTC	0.507000													13	121					0	0	0.001855	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537149	27537149	+	RNA	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:27537149G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCAATAGTCAGCTCAGTGCTC	0.483000													18	191					5.03518e-11	8.42425e-11	0.007413	1	0
NOP56	10528	broad.mit.edu	37	20	2636241	2636241	+	Splice_Site	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr20:2636241G>T	ENST00000329276.5	+	7	1274	c.757_splice	c.e7-1	p.G253_splice		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	253					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.G253V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTTTTCCTAGGCATGGACATA	0.507000													11	86					2.27111e-07	3.72805e-07	0.001368	1	0
TSPAN8	7103	broad.mit.edu	37	12	71531774	71531774	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:71531774C>T	ENST00000393330.2	-	9	955	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TSPAN8_ENST00000552128.1_Missense_Mutation_p.E52K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E135K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.E135K			P19075	TSN8_HUMAN	tetraspanin 8	135					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.E135K(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATTGTTTTTCACTTTCCCCT	0.338000													10	134					0	0	0.001368	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736874	140736874	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:140736874G>A	ENST00000571252.1	+	1	2107	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTCCTGCGTCTTCCTGGC	0.607000													12	20					0	0	0.003163	0	0
PCGF1	84759	broad.mit.edu	37	2	74733992	74733992	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:74733992C>T	ENST00000233630.6	-	3	1130	c.219G>A	c.(217-219)gtG>gtA	p.V73V	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	73	No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	p.V61V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GGAGGTACTTCACAATACAAC	0.522000													10	75					0	0	0.001855	0	0
CBX2	84733	broad.mit.edu	37	17	77755652	77755652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:77755652G>T	ENST00000269399.5	+	4	382	c.340G>T	c.(340-342)Gta>Tta	p.V114L	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	0	Ser-rich.				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	p.V114L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCTTGGCGTAGGGGGCAG	0.637000													9	69					3.09899e-07	5.06313e-07	0.004482	1	0
KIAA1199	57214	broad.mit.edu	37	15	81171078	81171078	+	Silent	SNP	T	T	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:81171078T>G	ENST00000394685.3	+	4	530	c.111T>G	c.(109-111)ccT>ccG	p.P37P	KIAA1199_ENST00000220244.3_Silent_p.P37P|KIAA1199_ENST00000356249.5_Silent_p.P37P			Q8WUJ3	K1199_HUMAN	KIAA1199	37								p.P37P(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGGTGCCCTGACCAGAGCC	0.587000													4	42					0	0	0.000248	0	0
NEBL	10529	broad.mit.edu	37	10	21108395	21108395	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:21108395C>T	ENST00000377122.4	-	20	2409	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	671					regulation of actin filament length		actin binding|structural constituent of muscle	p.P671P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTCTATCTCCGGGGTCATGC	0.413000													43	122					0	0	0.003214	0	0
TXK	7294	broad.mit.edu	37	4	48081936	48081936	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:48081936C>G	ENST00000264316.4	-	11	1251	c.1166G>C	c.(1165-1167)aGg>aCg	p.R389T	TXK_ENST00000507351.1_Missense_Mutation_p.R44T	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	389	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R389T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TACCAAATCCCTATGAATATA	0.343000													4	120					0	0	0.000248	0	0
HEATR5B	54497	broad.mit.edu	37	2	37217795	37217795	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:37217795G>C	ENST00000233099.5	-	34	5788	c.5693C>G	c.(5692-5694)cCa>cGa	p.P1898R	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1809R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1898							binding	p.P1898R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACTTACCCATGGGTCGCATGA	0.343000													8	51					0	0	0.003080	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865699	19865699	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr22:19865699C>G	ENST00000400519.1	-	16	1355	c.1356G>C	c.(1354-1356)ctG>ctC	p.L452L	TXNRD2_ENST00000400518.1_Silent_p.L423L|TXNRD2_ENST00000535882.1_Silent_p.L452L|TXNRD2_ENST00000400525.1_Silent_p.L430L|TXNRD2_ENST00000542719.1_Silent_p.L423L|TXNRD2_ENST00000400521.1_Silent_p.L453L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	453					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	p.L453L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGGGCTCCCTCAGGCACACCA	0.627000													3	28					0	0	0.004672	0	0
CMSS1	84319	broad.mit.edu	37	3	99890704	99890704	+	Silent	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:99890704A>G	ENST00000421999.2	+	7	686	c.540A>G	c.(538-540)ggA>ggG	p.G180G	CMSS1_ENST00000489081.1_Silent_p.G162G	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)									p.G180G(1)									CATTCAGAGGAGACGGCAAAG	0.413000													11	45					0	0	0.000978	0	0
CENPE	1062	broad.mit.edu	37	4	104064548	104064548	+	Missense_Mutation	SNP	C	C	G	rs146277781	byFrequency	TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:104064548C>G	ENST00000265148.3	-	34	5250	c.5161G>C	c.(5161-5163)Gag>Cag	p.E1721Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1696Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1721					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.E1721Q(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTAGCTCCTCTTGTTTTTCT	0.318000													5	173					0	0	0.001168	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834195	32834195	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:32834195G>C	ENST00000420878.3	-	5	1159	c.704C>G	c.(703-705)tCt>tGt	p.S235C	ZSCAN30_ENST00000333206.5_Missense_Mutation_p.S235C|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Splice_Site|ZNF397_ENST00000589420.1_Splice_Site|ZNF397_ENST00000261333.6_Splice_Site	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	235					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S235C(1)|p.?(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						TTGCTTCTTAGAGTTGTCCAG	0.478000													5	166					0	0	0.001984	0	0
MFSD12	126321	broad.mit.edu	37	19	3546137	3546137	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:3546137C>G	ENST00000355415.2	-	8	1393	c.1224G>C	c.(1222-1224)atG>atC	p.M408I	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.M408I|MFSD12_ENST00000389395.3_Missense_Mutation_p.M408I	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	408					transmembrane transport	integral to membrane		p.M408I(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCAAGAAGCTCATGGAGCCGT	0.602000													9	45					0	0	0.006214	0	0
ROS1	6098	broad.mit.edu	37	6	117647511	117647511	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:117647511G>A	ENST00000368508.3	-	33	5631	c.5433C>T	c.(5431-5433)tgC>tgT	p.C1811C	ROS1_ENST00000368507.3_Silent_p.C1805C|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1811	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.C1811C(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACACTACTGCAGGATCCAT	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	47					0	0	0.003080	0	0
ZNF195	7748	broad.mit.edu	37	11	3380601	3380601	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:3380601C>G	ENST00000354599.6	-	4	1525	c.1421G>C	c.(1420-1422)gGa>gCa	p.G474A	ZNF195_ENST00000399602.4_Missense_Mutation_p.G546A|ZNF195_ENST00000526601.1_Missense_Mutation_p.G527A|ZNF195_ENST00000429541.2_Missense_Mutation_p.G478A|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.G478A|ZNF195_ENST00000005082.9_Missense_Mutation_p.G523A	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G474A(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGGTTTCTCTCCAGTATGAAT	0.403000													14	109					0	0	0.006122	0	0
PRKCG	5582	broad.mit.edu	37	19	54403973	54403973	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:54403973C>T	ENST00000263431.3	+	14	1827	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PRKCG_ENST00000542049.1_Silent_p.F402F|PRKCG_ENST00000540413.1_Silent_p.F515F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	515	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCGCACCTTCTGCGGGACCC	0.557000													6	298					0	0	0.001984	0	0
ACVRL1	94	broad.mit.edu	37	12	52310003	52310003	+	Missense_Mutation	SNP	G	G	A	rs121909284		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:52310003G>A	ENST00000550683.1	+	7	1375	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R411Q	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	411	Protein kinase.		F -> L (in HHT2).|F -> V (in HHT2).|Missing (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.R411Q(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATTGCCCGCCGGACCATCGTG	0.627000													4	28					0	0	0.000248	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139557	125139557	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:125139557C>G	ENST00000368417.1	+	6	620	c.560C>G	c.(559-561)tCt>tGt	p.S187C	NKAIN2_ENST00000546092.1_Missense_Mutation_p.S120C|NKAIN2_ENST00000545433.1_Missense_Mutation_p.S172C	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	187						integral to membrane|plasma membrane		p.S187C(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GGCTTTGACTCTTATGGCTAT	0.378000													11	65					0	0	0.002450	0	0
BRIP1	83990	broad.mit.edu	37	17	59763162	59763162	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:59763162C>G	ENST00000577598.1	-	18	2939	c.2940G>C	c.(2938-2940)gaG>gaC	p.E980D	BRIP1_ENST00000259008.2_Intron			Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	0	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGAAAGACTTCTCTATCAAAG	0.284000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					3	95					0	0	0.004672	0	0
FHL5	9457	broad.mit.edu	37	6	97053872	97053872	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:97053872C>T	ENST00000326771.2	+	5	809	c.429C>T	c.(427-429)atC>atT	p.I143I	FHL5_ENST00000541107.1_Silent_p.I143I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	143	LIM zinc-binding 2.					nucleus	zinc ion binding	p.I143I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGCCTTTGATCTCCAAAGAGA	0.413000													5	68					0	0	0.000602	0	0
POLE	5426	broad.mit.edu	37	12	133209087	133209087	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:133209087G>C	ENST00000320574.5	-	45	6187	c.6144C>G	c.(6142-6144)atC>atG	p.I2048M	POLE_ENST00000535270.1_Missense_Mutation_p.I2021M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2048					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.I2048M(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GAGAGAAGGTGATCATTCCTG	0.552000								DNA polymerases (catalytic subunits)					40	134					0	0	0.001951	0	0
MATR3	9782	broad.mit.edu	37	5	138661298	138661298	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:138661298A>G	ENST00000394800.2	+	17	3011	c.2462A>G	c.(2461-2463)tAt>tGt	p.Y821C	MATR3_ENST00000394805.3_Missense_Mutation_p.Y773C|MATR3_ENST00000504203.1_Missense_Mutation_p.Y435C|MATR3_ENST00000361059.2_Missense_Mutation_p.Y773C|MATR3_ENST00000502499.1_Missense_Mutation_p.Y435C|MATR3_ENST00000510056.1_Missense_Mutation_p.Y773C|MATR3_ENST00000509990.1_Missense_Mutation_p.Y773C|MATR3_ENST00000502929.1_Missense_Mutation_p.Y821C|MATR3_ENST00000503811.1_Missense_Mutation_p.Y485C			P43243	MATR3_HUMAN	matrin 3	773						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.Y773C(1)|p.Y209C(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGACGACTATACAATCCCA	0.423000													6	73					0	0	0.001168	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256498	69256498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr14:69256498C>A	ENST00000439696.2	-	2	1070	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.E257*	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	257					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E257*(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGCCAGCTCCTGGCTGGAG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	151					1.3612e-06	2.18294e-06	0.003163	1	0
ACSM1	116285	broad.mit.edu	37	16	20648732	20648732	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:20648732C>T	ENST00000219151.4	-	8	1225	c.15G>A	c.(13-15)ccG>ccA	p.P5P	ACSM1_ENST00000307493.4_Silent_p.P386P|ACSM1_ENST00000520010.1_Silent_p.P386P			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	386					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.P5P(1)|p.P386P(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCATGAAACCCGGCTTGATCT	0.527000													30	124					0	0	0.002096	0	0
TAF1D	79101	broad.mit.edu	37	11	93469869	93469869	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:93469869G>C	ENST00000448108.2	-	5	1334	c.684C>G	c.(682-684)atC>atG	p.I228M		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I228M(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CTGCCAATTTGATATCACATT	0.338000													4	74					0	0	0.000248	0	0
ZFP64	55734	broad.mit.edu	37	20	50701362	50701362	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr20:50701362G>A	ENST00000361387.2	-	9	1732	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L	ZFP64_ENST00000371523.4_Silent_p.L339L|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L558L(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCTTGCCCAGAGGGGCCCGG	0.657000													4	38					0	0	0.000248	0	0
ITGAD	3681	broad.mit.edu	37	16	31408920	31408920	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:31408920G>A	ENST00000389202.2	+	4	294	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	82					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R82H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTGCAGTCCGCCCTGAGGCC	0.657000													7	33					0	0	0.004482	0	0
PDGFRA	5156	broad.mit.edu	37	4	55146502	55146502	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:55146502G>C	ENST00000257290.5	+	16	2507	c.2176G>C	c.(2176-2178)Gaa>Caa	p.E726Q	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E486Q	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	726	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E726Q(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTTATCTTTTGAAAACAATGG	0.393000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			4	45					0	0	0.000602	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968620	4968620	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrY:4968620G>A	ENST00000333703.4	+	5	3481	c.2968G>A	c.(2968-2970)Gat>Aat	p.D990N	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D1001N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D1001N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1001					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1001N(2)|p.D990N(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTGCCTCTCGATAACACCTT	0.498000													6	128					0	0	0.001984	0	0
FSCN3	29999	broad.mit.edu	37	7	127240303	127240303	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:127240303C>A	ENST00000420086.2	+	7	1605	c.940C>A	c.(940-942)Caa>Aaa	p.Q314K	FSCN3_ENST00000265825.5_Silent_p.G449G			Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	444						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.G449G(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTTGGGGCAAGTTTGCCC	0.557000													9	43					7.48243e-07	1.21677e-06	0.006214	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64507906	64507906	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:64507906C>T	ENST00000498707.1	-	39	6091	c.5749G>A	c.(5749-5751)Ggt>Agt	p.G1917S	ADAMTS9_ENST00000467257.1_5'UTR|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1889S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1917	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1917S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCACAGTAACCACCGCATTTC	0.493000													8	33					0	0	0.004482	0	0
FAM104B	90736	broad.mit.edu	37	X	55170248	55170248	+	Silent	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:55170248G>C	ENST00000358460.4	-	4	465	c.312C>G	c.(310-312)ctC>ctG	p.L104L	FAM104B_ENST00000332132.4_Silent_p.L105L			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	104								p.L105L(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GTGAAGTATTGAGTTTTATTT	0.353000													24	75					0	0	0.004656	0	0
CPNE3	8895	broad.mit.edu	37	8	87544779	87544779	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:87544779G>C	ENST00000521271.1	+	6	592	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	CPNE3_ENST00000198765.4_Missense_Mutation_p.E144Q	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	144	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	p.E144Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCTTGTTTGAAATGGAAGC	0.318000													4	273					0	0	0.000248	0	0
SMYD5	10322	broad.mit.edu	37	2	73448960	73448960	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:73448960G>C	ENST00000389501.4	+	6	589	c.544G>C	c.(544-546)Gac>Cac	p.D182H	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	182							metal ion binding	p.D66H(1)|p.D182H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCAGGCGAAGGACAAGGACCG	0.453000													9	104					0	0	0.006214	0	0
C6orf211	79624	broad.mit.edu	37	6	151789867	151789867	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:151789867G>A	ENST00000367294.3	+	5	1207	c.948G>A	c.(946-948)ggG>ggA	p.G316G	C6orf211_ENST00000545879.1_Silent_p.G197G	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	316							protein binding	p.G316G(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CCAAGTGTGGGGCTGACTGGG	0.373000													9	76					0	0	0.006214	0	0
MPP3	4356	broad.mit.edu	37	17	41905172	41905172	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:41905172G>A	ENST00000398393.1	-	6	805	c.545C>T	c.(544-546)tCa>tTa	p.S182L	MPP3_ENST00000398389.4_Missense_Mutation_p.S157L			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	157	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.S157L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AACAGCCCCTGAGTGCTCGTC	0.622000													15	95					0	0	0.007413	0	0
RAB30	27314	broad.mit.edu	37	11	82693228	82693228	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:82693228C>G	ENST00000533486.1	-	6	875	c.591G>C	c.(589-591)ttG>ttC	p.L197F	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Missense_Mutation_p.L197F|RAB30_ENST00000534141.1_3'UTR|RAB30_ENST00000260056.2_Missense_Mutation_p.L197F	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	197					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	p.L197F(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TACAACAAGTCAAATAGCTGA	0.473000													3	127					0	0	0.004672	0	0
BAIAP2	10458	broad.mit.edu	37	17	79060372	79060372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:79060372G>A	ENST00000321300.6	+	6	574	c.481G>A	c.(481-483)Gag>Aag	p.E161K	BAIAP2_ENST00000428708.2_Missense_Mutation_p.E161K|BAIAP2_ENST00000392411.3_Missense_Mutation_p.E83K|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321280.7_Missense_Mutation_p.E161K|BAIAP2_ENST00000435091.3_Missense_Mutation_p.E161K|BAIAP2_ENST00000575245.1_Missense_Mutation_p.E194K|BAIAP2_ENST00000575712.1_Missense_Mutation_p.E161K	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	161	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.E161K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCGGACAAGGAGCTGCAGGT	0.632000													6	90					0	0	0.001984	0	0
RGS8	85397	broad.mit.edu	37	1	182615944	182615944	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:182615944C>G	ENST00000483095.2	-	7	726	c.469G>C	c.(469-471)Gac>Cac	p.D157H	RGS8_ENST00000367557.4_Missense_Mutation_p.D157H|RGS8_ENST00000367556.1_Missense_Mutation_p.D157H|RGS8_ENST00000258302.4_Missense_Mutation_p.D175H			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	157	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.D175H(1)|p.D157H(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGGTAAGAGTCTTTCTCCATG	0.517000													40	133					0	0	0.006230	0	0
DCP2	167227	broad.mit.edu	37	5	112337369	112337369	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:112337369G>A	ENST00000389063.2	+	7	1002	c.804G>A	c.(802-804)ttG>ttA	p.L268L	DCP2_ENST00000515408.1_Silent_p.L268L|DCP2_ENST00000543319.1_Silent_p.L57L	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	268					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	p.L268L(1)		endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TGGAAAAATTGAGGTAAAGAA	0.373000													9	97					0	0	0.004482	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740398	140740398	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:140740398C>T	ENST00000522605.1	+	1	696	c.696C>T	c.(694-696)gtC>gtT	p.V232V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.V232V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCAAAGTCACGGATGCCA	0.552000													4	26					0	0	0.000248	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75924672	75924672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:75924672G>A	ENST00000262207.4	+	3	731	c.263G>A	c.(262-264)tGg>tAg	p.W88*	CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	88						extracellular region		p.W88*(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTGTAGACATGGGATGTAGAG	0.418000													7	66					0	0	0.003080	0	0
COL1A2	1278	broad.mit.edu	37	7	94038733	94038733	+	Splice_Site	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:94038733G>T	ENST00000297268.6	+	17	1362		c.e17+1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.?(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGACCTCCTGTAAGTAGCCA	0.507000										HNSCC(75;0.22)			27	74					4.87955e-14	8.32395e-14	0.005443	1	0
NPY2R	4887	broad.mit.edu	37	4	156135229	156135229	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:156135229G>A	ENST00000329476.3	+	2	627	c.138G>A	c.(136-138)ctG>ctA	p.L46L	NPY2R_ENST00000506608.1_Silent_p.L46L	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	46					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.L46L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GTACCAAGCTGATTGAGGTAC	0.463000													10	59					0	0	0.000978	0	0
TENM2	57451	broad.mit.edu	37	5	167673884	167673884	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:167673884C>T	ENST00000519204.1	+	26	5695	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	TENM2_ENST00000520394.1_Silent_p.I1741I|TENM2_ENST00000545108.1_Silent_p.I1979I|TENM2_ENST00000403607.2_Silent_p.I1804I|TENM2_ENST00000518659.1_Silent_p.I1980I					teneurin transmembrane protein 2									p.I1813I(1)|p.I1980I(1)|p.I1859I(1)									ACACCTCCATCGGCTACATCC	0.532000													32	110					0	0	0.001786	0	0
CLUL1	27098	broad.mit.edu	37	18	641487	641487	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:641487G>A	ENST00000581619.1	+	7	2077	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	CLUL1_ENST00000400606.2_Silent_p.V385V|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Silent_p.V385V|CLUL1_ENST00000338387.7_Silent_p.V385V|CLUL1_ENST00000540035.1_Silent_p.V437V			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	385					cell death	extracellular region		p.V385V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TTGGCTGGGTGTCTGAACTGG	0.493000													10	53					0	0	0.000978	0	0
CMYA5	202333	broad.mit.edu	37	5	79026143	79026143	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:79026143C>A	ENST00000446378.2	+	2	1586	c.1555C>A	c.(1555-1557)Cct>Act	p.P519T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	519	Glu-rich.					perinuclear region of cytoplasm		p.P519T(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCTATTACCCCTGAACCTGA	0.413000													35	121					4.4194e-11	7.42972e-11	0.002836	1	0
RSPO2	340419	broad.mit.edu	37	8	108970419	108970419	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:108970419G>C	ENST00000276659.5	-	5	1125	c.505C>G	c.(505-507)Ctg>Gtg	p.L169V	RSPO2_ENST00000378439.2_Missense_Mutation_p.L105V|RSPO2_ENST00000517781.1_Missense_Mutation_p.L105V|RSPO2_ENST00000517939.1_Missense_Mutation_p.L102V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	169	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.L169V(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTGGTTTCCAGACCCCATTTA	0.408000													4	159					0	0	0.000248	0	0
ADCY3	109	broad.mit.edu	37	2	25044432	25044432	+	Silent	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:25044432G>C	ENST00000260600.5	-	19	3932	c.3081C>G	c.(3079-3081)ctC>ctG	p.L1027L	CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Silent_p.L614L|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1027					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.L1027L(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGATGTTGGTGAGCGTATCCT	0.617000													3	163					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9048000	9048000	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:9048000G>C	ENST00000397910.4	-	5	33834	c.33631C>G	c.(33631-33633)Ctg>Gtg	p.L11211V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11213	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6844V(1)|p.L11211V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTGACCAGTGAAGTCACC	0.488000													6	21					0	0	0.001168	0	0
TTYH3	80727	broad.mit.edu	37	7	2697955	2697955	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:2697955C>T	ENST00000258796.7	+	12	1491	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	TTYH3_ENST00000407643.1_Missense_Mutation_p.P397L|TTYH3_ENST00000403167.1_Missense_Mutation_p.P258L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	429						chloride channel complex|plasma membrane	chloride channel activity	p.P429L(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAGGCCGCTCCAGGGCCGCGG	0.697000													3	26					0	0	0.004672	0	0
GNB2	2783	broad.mit.edu	37	7	100275742	100275742	+	Silent	SNP	A	A	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:100275742A>T	ENST00000303210.4	+	8	1001	c.519A>T	c.(517-519)acA>acT	p.T173T	GNB2_ENST00000393924.1_Silent_p.T173T|GNB2_ENST00000424361.1_Silent_p.T129T|GNB2_ENST00000436220.1_Silent_p.T129T|GNB2_ENST00000419828.1_Silent_p.T73T|GNB2_ENST00000427895.1_Silent_p.T73T|GNB2_ENST00000393926.1_Silent_p.T173T	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	173					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.T173T(1)		endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				ACATTGAGACAGGCCAGCAGA	0.587000													15	48					0	0	0.003163	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428412	1428412	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:1428412C>T	ENST00000355432.3	+	11	1213	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity	p.S355F(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCTCCGCCTCCGCGACACGG	0.498000													6	181					0	0	0.004482	0	0
SETBP1	26040	broad.mit.edu	37	18	42281614	42281614	+	Silent	SNP	A	A	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:42281614A>T	ENST00000282030.5	+	2	599	c.303A>T	c.(301-303)ggA>ggT	p.G101G	SETBP1_ENST00000426838.4_Silent_p.G101G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	101						nucleus	DNA binding	p.G101G(2)|p.G47G(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCACAGAGGGAAGTCTGAAGC	0.458000									Schinzel-Giedion syndrome				15	75					0	0	0.003163	0	0
NAA25	80018	broad.mit.edu	37	12	112485592	112485592	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:112485592G>A	ENST00000261745.4	-	17	2131	c.1883C>T	c.(1882-1884)tCa>tTa	p.S628L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	628						cytoplasm	protein binding	p.S628L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAAACTGGTTGATCTGTGATA	0.333000													57	151					0	0	0.003610	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007755	32007755	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr21:32007755G>C	ENST00000330798.2	+	1	201	c.173G>C	c.(172-174)aGa>aCa	p.R58T		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	58						intermediate filament		p.R58T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507000													12	163					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9071029	9071029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:9071029G>A	ENST00000397910.4	-	3	16620	c.16417C>T	c.(16417-16419)Cag>Tag	p.Q5473*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5475	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q5473*(2)|p.Q1106*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTAGTCTGAGAGATATTA	0.498000													9	78					0	0	0.006214	0	0
SDC3	9672	broad.mit.edu	37	1	31351584	31351584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:31351584G>A	ENST00000339394.6	-	2	316	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	SDC3_ENST00000336798.7_5'UTR|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	48						integral to membrane	cytoskeletal protein binding	p.Q48*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCAGCGCTGGGCCTAGGGA	0.627000													4	59					0	0	0.000248	0	0
AGR2	10551	broad.mit.edu	37	7	16841359	16841359	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:16841359C>G	ENST00000419304.2	-	2	214	c.62G>C	c.(61-63)aGa>aCa	p.R21T	AGR2_ENST00000419572.2_Missense_Mutation_p.R41T|AGR2_ENST00000401412.1_Missense_Mutation_p.R21T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	21					mucus secretion	endoplasmic reticulum|extracellular region	protein binding	p.R21T(1)		endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TGTGGTATCTCTGGCCAGAGT	0.498000													17	68					0	0	0.006122	0	0
WDFY3	23001	broad.mit.edu	37	4	85687162	85687162	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:85687162C>T	ENST00000322366.6	-	32	5396	c.4989G>A	c.(4987-4989)gtG>gtA	p.V1663V	WDFY3_ENST00000295888.4_Silent_p.V1663V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1663						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.V1663V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCAGTGTCTTCACCAGTTCTT	0.343000													5	72					0	0	0.001168	0	0
TARBP1	6894	broad.mit.edu	37	1	234529176	234529176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:234529176G>A	ENST00000040877.1	-	28	4491	c.4492C>T	c.(4492-4494)Cag>Tag	p.Q1498*	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1498					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.Q1498*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGATACACTGAAGGCTGCCA	0.473000													4	46					0	0	0.000602	0	0
INADL	10207	broad.mit.edu	37	1	62237198	62237198	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:62237198A>G	ENST00000371158.2	+	6	734	c.620A>G	c.(619-621)cAa>cGa	p.Q207R	INADL_ENST00000316485.6_Missense_Mutation_p.Q207R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	207	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Q207R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCATTATTACAACAAACCACT	0.398000													14	66					0	0	0.004007	0	0
KCNH8	131096	broad.mit.edu	37	3	19479731	19479731	+	Missense_Mutation	SNP	G	G	A	rs138531032	byFrequency	TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:19479731G>A	ENST00000328405.2	+	8	1519	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	KCNH8_ENST00000537696.1_Missense_Mutation_p.R59Q	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	418						integral to membrane	two-component sensor activity	p.R418Q(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CCGTCGATCCGAAGTGCCTAT	0.493000													5	163					0	0	0.000602	0	0
LIN7C	55327	broad.mit.edu	37	11	27520959	27520959	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:27520959C>T	ENST00000278193.2	-	4	405	c.385G>A	c.(385-387)Gat>Aat	p.D129N	LIN7C_ENST00000524596.1_Missense_Mutation_p.D105N	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	129	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		p.D129N(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCATGTCTATCAGCAATTCCA	0.413000													20	95					0	0	0.001882	0	0
C11orf82	220042	broad.mit.edu	37	11	82645329	82645329	+	Silent	SNP	T	T	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:82645329T>G	ENST00000533655.1	+	6	3161	c.2949T>G	c.(2947-2949)ccT>ccG	p.P983P	C11orf82_ENST00000430323.2_Silent_p.P983P|C11orf82_ENST00000329143.3_Silent_p.P682P|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	983					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.P983P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGGCCCACCTTCAGTGTGTG	0.408000													14	86					0	0	0.002450	0	0
OR2L3	391192	broad.mit.edu	37	1	248224188	248224188	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:248224188G>C	ENST00000359959.3	+	1	205	c.205G>C	c.(205-207)Gac>Cac	p.D69H	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D69H(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCCCTCATTGACCTAAATTA	0.423000													43	353					0	0	0.003214	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819935	50819935	+	Silent	SNP	A	A	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:50819935A>T	ENST00000374115.3	+	1	1589	c.1149A>T	c.(1147-1149)ctA>ctT	p.L383L	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	383					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.L383L(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGCGCCGCTAGTGGTCTCAC	0.657000													8	26					0	0	0.000673	0	0
LRRC23	10233	broad.mit.edu	37	12	7016626	7016626	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:7016626G>A	ENST00000433346.1	+	6	1116	c.638G>A	c.(637-639)aGa>aAa	p.R213K	LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000443597.2_Intron|LRRC23_ENST00000007969.8_Intron			Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	213										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CACTGGGTCAGagggtggtgc	0.517000													7	38					0	0	0.001984	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617525	37617525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr21:37617525G>A	ENST00000399151.3	+	19	3332	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1083					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.E1083K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTGCGAGGCGAGCTGAGCGA	0.627000													6	42					0	0	0.001984	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817734	200817734	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:200817734C>G	ENST00000358823.2	+	11	2107	c.1837C>G	c.(1837-1839)Cac>Gac	p.H613D	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.H597D|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.H624D	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	624						cytoplasm|microtubule	protein binding	p.H613D(1)									CACTGGAATTCACGTTCCTTC	0.368000													10	83					0	0	0.000978	0	0
MGA	23269	broad.mit.edu	37	15	42052655	42052655	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:42052655C>G	ENST00000219905.7	+	20	7507	c.7326C>G	c.(7324-7326)ctC>ctG	p.L2442L	MGA_ENST00000389936.4_Silent_p.L2403L|MGA_ENST00000566586.1_Silent_p.L2233L|MGA_ENST00000545763.1_Silent_p.L2233L|MGA_ENST00000570161.1_Silent_p.L2442L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2403						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L2491L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAGGGATCTCTTTGAGAAAT	0.433000													4	91					0	0	0.000248	0	0
TPO	7173	broad.mit.edu	37	2	1418189	1418189	+	Silent	SNP	G	G	A	rs61758084		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:1418189G>A	ENST00000345913.4	+	2	100	c.9G>A	c.(7-9)gcG>gcA	p.A3A	TPO_ENST00000382269.3_Silent_p.A3A|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Silent_p.A3A|TPO_ENST00000329066.4_Silent_p.A3A|TPO_ENST00000337415.3_Silent_p.A3A|TPO_ENST00000382198.1_Silent_p.A3A|TPO_ENST00000382201.3_Silent_p.A3A|TPO_ENST00000346956.3_Silent_p.A3A|TPO_ENST00000349624.3_Silent_p.A3A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	3					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A3A(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAATGAGAGCGCTCGCTGTGC	0.522000													4	18					0	0	0.000602	0	0
CFTR	1080	broad.mit.edu	37	7	117282538	117282538	+	Nonsense_Mutation	SNP	C	C	G	rs76649725		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:117282538C>G	ENST00000003084.6	+	23	3896	c.3764C>G	c.(3763-3765)tCa>tGa	p.S1255*	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Nonsense_Mutation_p.S1194*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1255	ABC transporter 2.		S -> P (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.S1255*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACTTTGTTATCAGCTTTTTTG	0.433000									Cystic Fibrosis				6	67					0	0	0.001984	0	0
RFX4	5992	broad.mit.edu	37	12	107080752	107080752	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:107080752G>A	ENST00000392842.1	+	6	882	c.468G>A	c.(466-468)acG>acA	p.T156T	RFX4_ENST00000229387.5_Silent_p.T62T|RFX4_ENST00000357881.4_Silent_p.T165T|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	156					transcription, DNA-dependent	nucleus	DNA binding	p.T62T(1)|p.T165T(1)|p.T156T(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TGAGTGAGACGGGCAAGAAAG	0.468000													14	172					0	0	0.002450	0	0
HELZ	9931	broad.mit.edu	37	17	65144729	65144729	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:65144729C>G	ENST00000358691.5	-	20	2743	c.2577G>C	c.(2575-2577)agG>agC	p.R859S	HELZ_ENST00000580168.1_Missense_Mutation_p.R860S	NM_014877.3	NP_055692.2			helicase with zinc finger									p.R859S(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACAGGAGAATCCTACATGGGA	0.483000													23	322					0	0	0.002299	0	0
JPH1	56704	broad.mit.edu	37	8	75227253	75227253	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:75227253C>T	ENST00000342232.4	-	2	1022	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	328					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.E328K(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TATTTTCCCTCTTCTTTGGAG	0.448000													10	151					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179468736	179468736	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:179468736C>T	ENST00000589042.1	-	282	54902	c.54678G>A	c.(54676-54678)ttG>ttA	p.L18226L	TTN_ENST00000342175.6_Silent_p.L9353L|TTN_ENST00000359218.5_Silent_p.L9286L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L9161L|TTN_ENST00000342992.6_Silent_p.L15658L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.L16585L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16585	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L15658L(2)|p.L9353L(1)|p.L9286L(1)|p.L9161L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACGCCTTTCAATCCCACTT	0.468000													26	358					0	0	0.007291	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145724389	145724389	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:145724389C>T	ENST00000292539.4	+	4	1338	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	PPP1R16A_ENST00000435887.1_Silent_p.L141L|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	141						plasma membrane	protein binding	p.L141L(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGACGCCTCTGCATGCTGC	0.622000													6	51					0	0	0.001168	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528641	6528641	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:6528641G>C	ENST00000377748.1	-	21	2983	c.2486C>G	c.(2485-2487)tCa>tGa	p.S829*	PLEKHG5_ENST00000377728.3_Nonsense_Mutation_p.S752*|PLEKHG5_ENST00000400913.1_Nonsense_Mutation_p.S752*|PLEKHG5_ENST00000537245.1_Nonsense_Mutation_p.S831*|PLEKHG5_ENST00000340850.5_Nonsense_Mutation_p.S752*|PLEKHG5_ENST00000400915.3_Nonsense_Mutation_p.S808*|PLEKHG5_ENST00000377732.1_Nonsense_Mutation_p.S789*|PLEKHG5_ENST00000377737.2_Nonsense_Mutation_p.S752*|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Nonsense_Mutation_p.S752*|PLEKHG5_ENST00000535355.1_Nonsense_Mutation_p.S821*|PLEKHG5_ENST00000377725.1_Nonsense_Mutation_p.S752*	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	808					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.S829*(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGCCATCTGAGGCACTGTG	0.622000													3	36					0	0	0.004672	0	0
FMO3	2328	broad.mit.edu	37	1	171077331	171077331	+	Missense_Mutation	SNP	T	T	C	rs72549327		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:171077331T>C	ENST00000367755.4	+	5	707	c.596T>C	c.(595-597)aTt>aCt	p.I199T	FMO3_ENST00000392085.2_Missense_Mutation_p.I199T|FMO3_ENST00000538429.1_Missense_Mutation_p.I136T|FMO3_ENST00000542847.1_Missense_Mutation_p.I179T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	199					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.I199T(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCTGTGATATTGCCACAGAA	0.493000													6	60					0	0	0.001984	0	0
PILRB	29990	broad.mit.edu	37	7	99956586	99956586	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:99956586C>G	ENST00000310771.4	+	16	2834	c.338C>G	c.(337-339)tCa>tGa	p.S113*	PILRB_ENST00000444874.1_Silent_p.L43L|PILRB_ENST00000452089.1_Nonsense_Mutation_p.S113*|PILRB_ENST00000448382.1_Silent_p.L165L|PILRB_ENST00000444073.1_Nonsense_Mutation_p.S113*			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	113	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.S113*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGGATCTCAAACCTGCGG	0.552000													11	131					0	0	0.000978	0	0
CREB5	9586	broad.mit.edu	37	7	28858876	28858876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:28858876G>T	ENST00000357727.2	+	11	1897	c.1507G>T	c.(1507-1509)Gac>Tac	p.D503Y	CREB5_ENST00000409603.1_Missense_Mutation_p.D470Y|CREB5_ENST00000396299.2_Missense_Mutation_p.D470Y|CREB5_ENST00000396300.2_Missense_Mutation_p.D496Y|CREB5_ENST00000396298.2_Missense_Mutation_p.D364Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	503					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D503Y(1)|p.D364Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCACAGAACAGACCTGAATCC	0.478000													13	135					0.000151284	0.000232951	0.001855	1	0
SVOP	55530	broad.mit.edu	37	12	109313526	109313526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:109313526C>A	ENST00000299134.5	-	11	996	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	p.G333W(2)		breast(2)|lung(4)	6						CTTCTTGCGCCCCAGGCGGTC	0.537000													3	11					6.4e-05	9.94286e-05	0.004672	1	0
CPNE6	9362	broad.mit.edu	37	14	24545604	24545604	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr14:24545604G>C	ENST00000397016.2	+	13	1405	c.1094G>C	c.(1093-1095)cGa>cCa	p.R365P	CPNE6_ENST00000537691.1_Missense_Mutation_p.R420P|CPNE6_ENST00000216775.2_Missense_Mutation_p.R365P			O95741	CPNE6_HUMAN	copine VI (neuronal)	365	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	p.R365P(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TTTGGGGCTCGAATCCCCCCC	0.602000													32	106					0	0	0.002445	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476411	140476411	+	Silent	SNP	A	A	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:140476411A>C	ENST00000194155.4	+	1	2185	c.2037A>C	c.(2035-2037)gcA>gcC	p.A679A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A679A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGAGGCGGCACCGGCCCAGG	0.687000													11	144					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9071370	9071370	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:9071370G>A	ENST00000397910.4	-	3	16279	c.16076C>T	c.(16075-16077)cCc>cTc	p.P5359L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5361	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5359L(2)|p.P992L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGAGGAGGGGATGCTCTG	0.527000													10	86					0	0	0.006214	0	0
DAPP1	27071	broad.mit.edu	37	4	100774382	100774382	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:100774382G>A	ENST00000296414.7	+	4	447	c.366G>A	c.(364-366)ctG>ctA	p.L122L	DAPP1_ENST00000512369.1_Silent_p.L122L			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	122	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	p.L122L(2)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CAGGCACTCTGATGGTTCTAA	0.423000													4	38					0	0	0.000248	0	0
ZAN	7455	broad.mit.edu	37	7	100345986	100345986	+	RNA	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:100345986C>A	ENST00000542585.1	+	0	1290				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P381H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACGCCCATCCCTTCTGTGAC	0.567000													18	63					1.15919e-05	1.80895e-05	0.001216	1	0
SOGA2	23255	broad.mit.edu	37	18	8813163	8813163	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:8813163G>A	ENST00000359865.3	+	12	2933	c.2791G>A	c.(2791-2793)Gac>Aac	p.D931N	SOGA2_ENST00000306329.11_Missense_Mutation_p.D1250N|SOGA2_ENST00000306285.7_Missense_Mutation_p.D284N|SOGA2_ENST00000518815.1_Missense_Mutation_p.D284N|SOGA2_ENST00000400050.3_Missense_Mutation_p.D890N|SOGA2_ENST00000517570.1_Missense_Mutation_p.D890N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1241								p.D931N(1)									GGAACTTCTCGACCGCCTGGA	0.597000													3	10					0	0	0.004672	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619791	15619791	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:15619791C>G	ENST00000464847.2	+	5	1306	c.753C>G	c.(751-753)ctC>ctG	p.L251L	ZNF286A_ENST00000593105.1_Silent_p.L241L|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.L251L|ZNF286A_ENST00000421016.1_Silent_p.L251L|ZNF286A_ENST00000413242.2_Silent_p.L251L|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L251L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GTGGTGAACTCTTCACCTACC	0.358000													6	52					0	0	0.001168	0	0
SALL1	6299	broad.mit.edu	37	16	51174513	51174513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:51174513G>T	ENST00000440970.1	-	2	1760	c.1329C>A	c.(1327-1329)agC>agA	p.S443R	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S540R|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	540					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S540R(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTCTAGCCAGCTGGTGACTG	0.557000													16	63					1.3612e-06	2.18294e-06	0.003163	1	0
ENPP3	5169	broad.mit.edu	37	6	131973774	131973774	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:131973774G>A	ENST00000414305.1	+	5	698	c.370G>A	c.(370-372)Gat>Aat	p.D124N	ENPP3_ENST00000543135.1_Missense_Mutation_p.D90N|ENPP3_ENST00000358229.5_Missense_Mutation_p.D124N|ENPP3_ENST00000357639.3_Missense_Mutation_p.D124N|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Missense_Mutation_p.D90N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	124	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.D124N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCAGAGGAAAGATTGCTGTGC	0.453000													10	82					0	0	0.000978	0	0
YBEY	54059	broad.mit.edu	37	21	47706941	47706941	+	Silent	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr21:47706941G>C	ENST00000329319.3	+	2	512	c.114G>C	c.(112-114)ggG>ggC	p.G38G	YBEY_ENST00000397691.1_Silent_p.G38G|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397701.4_Silent_p.G38G|YBEY_ENST00000339195.6_Silent_p.G38G	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	38							metal ion binding|metalloendopeptidase activity	p.G38G(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTGACCTGGGGATCATCTGTG	0.418000													4	48					0	0	0.000248	0	0
DOK6	220164	broad.mit.edu	37	18	67365639	67365639	+	Splice_Site	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:67365639G>C	ENST00000382713.5	+	5	599		c.e5-1		DOK6_ENST00000584435.1_Splice_Site	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6								insulin receptor binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCTTCACAGAGAGATTCAA	0.388000													9	46					0	0	0.000673	0	0
CIRH1A	84916	broad.mit.edu	37	16	69189791	69189791	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr16:69189791C>G	ENST00000563094.1	+	11	1216	c.1182C>G	c.(1180-1182)atC>atG	p.I394M	CIRH1A_ENST00000314423.7_Missense_Mutation_p.I394M|CIRH1A_ENST00000352319.4_Intron			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	394						nucleolus	protein binding	p.I394M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGAACATTATCTGTAGCTGTA	0.423000													5	107					0	0	0.000602	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127270	42127270	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:42127270G>A	ENST00000382448.4	+	3	330	c.321G>A	c.(319-321)ctG>ctA	p.L107L	JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L107L|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|JMJD7_ENST00000397299.4_Silent_p.L107L|JMJD7_ENST00000408047.1_Silent_p.L8L|JMJD7-PLA2G4B_ENST00000542534.1_Silent_p.L107L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.L107L(3)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGCGCCGCCTGCCCCTGAGCT	0.657000													24	71					0	0	0.003330	0	0
PEAK1	79834	broad.mit.edu	37	15	77406519	77406519	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:77406519C>G	ENST00000560626.2	-	7	5695	c.5220G>C	c.(5218-5220)gtG>gtC	p.V1740V	PEAK1_ENST00000312493.4_Silent_p.V1740V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1740					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.V1740V(2)									GCAGAATTTTCACAATACAAC	0.483000													5	113					0	0	0.000602	0	0
CCDC69	26112	broad.mit.edu	37	5	150584997	150584997	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:150584997C>G	ENST00000355417.2	-	2	262	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	30								p.E30Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATGGGGCTCTGGTCTGGGT	0.552000													5	139					0	0	0.000602	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550502	22550502	+	RNA	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr22:22550502C>T	ENST00000390285.2	+	0	265																											CAGCAGCGCCCGGGCAGTTCC	0.597000													4	40					0	0	0.000602	0	0
MST1L	11223	broad.mit.edu	37	1	17085014	17085014	+	RNA	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:17085014G>A	ENST00000455405.2	-	0	174																		p.R456R(1)|p.R487R(1)									CCCCAGCCACGCGCAGCTTGG	0.602000													6	80					0	0	0.001168	0	0
CYP51A1	1595	broad.mit.edu	37	7	91752461	91752461	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:91752461C>G	ENST00000003100.8	-	7	1224	c.1059G>C	c.(1057-1059)gaG>gaC	p.E353D	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.E248D	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	347					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	p.E353D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GAGGCAGATTCTCTCCACAGA	0.373000													4	102					0	0	0.000248	0	0
EFR3A	23167	broad.mit.edu	37	8	132958769	132958769	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:132958769C>T	ENST00000254624.5	+	4	480	c.255C>T	c.(253-255)ctC>ctT	p.L85L	EFR3A_ENST00000519656.1_Silent_p.L49L|EFR3A_ENST00000334503.4_Silent_p.L85L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	85						plasma membrane	binding	p.L85L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ACCAACTTCTCATGGCTTGCC	0.418000													5	36					0	0	0.000602	0	0
UTRN	7402	broad.mit.edu	37	6	145156988	145156988	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:145156988G>C	ENST00000367545.3	+	69	9738	c.9738G>C	c.(9736-9738)caG>caC	p.Q3246H	UTRN_ENST00000367526.4_Missense_Mutation_p.Q801H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3246					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.Q3246H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCAGCCGCAGAGCCCAGCTC	0.552000													9	117					0	0	0.004482	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611669	42611669	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:42611669C>G	ENST00000276410.2	-	5	1028	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	CHRNA6_ENST00000534622.1_Missense_Mutation_p.E210Q	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	225						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.E225Q(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGTATATCTCTTCACAACAG	0.338000													7	87					0	0	0.001984	0	0
TCF4	6925	broad.mit.edu	37	18	53254359	53254359	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:53254359C>G	ENST00000398339.1	-	3	351	c.295G>C	c.(295-297)Gat>Cat	p.D99H	TCF4_ENST00000565018.2_5'UTR|TCF4_ENST00000566279.1_5'UTR|TCF4_ENST00000564403.2_5'UTR|TCF4_ENST00000354452.3_5'UTR|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000564999.1_5'UTR|TCF4_ENST00000356073.4_5'UTR	NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN	transcription factor 4	193					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.D99H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTAGCAAAATCACACAAACCT	0.458000													6	42					0	0	0.001168	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555493	155555493	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:155555493C>G	ENST00000295101.2	+	1	683	c.206C>G	c.(205-207)tCg>tGg	p.S69W	KCNJ3_ENST00000544049.1_Missense_Mutation_p.S69W	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	69					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S69W(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CGCTACCTCTCGGACCTCTTC	0.592000													13	39					0	0	0.002450	0	0
SDHD	6392	broad.mit.edu	37	11	111958662	111958662	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:111958662G>A	ENST00000375549.3	+	2	269	c.134G>A	c.(133-135)gGa>gAa	p.G45E	SDHD_ENST00000525291.1_Intron|SDHD_ENST00000526592.1_Missense_Mutation_p.G45E|SDHD_ENST00000528048.1_Missense_Mutation_p.G45E|SDHD_ENST00000528182.1_Missense_Mutation_p.G45E|SDHD_ENST00000532699.1_Missense_Mutation_p.G45E|SDHD_ENST00000528021.1_Missense_Mutation_p.G45E	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	45					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	p.G45E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	GAATGGTGTGGAGTGCAGCAC	0.493000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				12	185					0	0	0.001368	0	0
EYS	346007	broad.mit.edu	37	6	66204732	66204732	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:66204732C>A	ENST00000503581.1	-	4	1109	c.572G>T	c.(571-573)aGt>aTt	p.S191I	EYS_ENST00000370616.2_Missense_Mutation_p.S191I|EYS_ENST00000393380.2_Missense_Mutation_p.S191I|EYS_ENST00000370621.3_Missense_Mutation_p.S191I|EYS_ENST00000370618.3_Missense_Mutation_p.S191I|EYS_ENST00000342421.5_Missense_Mutation_p.S191I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	191	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S191I(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCAAGCTTCACTAAGACATTT	0.423000													7	28					0.00198382	0.0030016	0.001984	1	0
PKD1L1	168507	broad.mit.edu	37	7	47870862	47870862	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:47870862C>T	ENST00000289672.2	-	42	6476	c.6426G>A	c.(6424-6426)ggG>ggA	p.G2142G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2142					cell-cell adhesion	integral to membrane		p.G2142G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGAAGCGGTCCCACAAATGG	0.552000													32	66					0	0	0.001512	0	0
KLHL4	56062	broad.mit.edu	37	X	86921487	86921487	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:86921487A>G	ENST00000373119.4	+	11	2255	c.2110A>G	c.(2110-2112)Aac>Gac	p.N704D	KLHL4_ENST00000373114.4_Intron	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	704						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.N704D(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGTTCCTGTTAACATTGGAAG	0.318000													3	39					0	0	0.004672	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648398	75648398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chrX:75648398G>T	ENST00000361470.2	+	1	353	c.75G>T	c.(73-75)tgG>tgT	p.W25C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	25						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.W25C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACAGCAGCTGGGGCGAAATGC	0.667000													7	2					1.6384e-10	2.72805e-10	0.001984	1	0
DNAH2	146754	broad.mit.edu	37	17	7637925	7637925	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:7637925A>G	ENST00000572933.1	+	7	2337	c.877A>G	c.(877-879)Aag>Gag	p.K293E	DNAH2_ENST00000570791.1_Missense_Mutation_p.K293E|DNAH2_ENST00000082259.3_Missense_Mutation_p.K293E|DNAH2_ENST00000389173.2_Missense_Mutation_p.K293E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	293	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K293E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCAGTAAGCAGCTGGT	0.532000													7	43					0	0	0.000978	0	0
MYH4	4622	broad.mit.edu	37	17	10354166	10354166	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:10354166C>T	ENST00000255381.2	-	29	4022	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1304					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1304Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCGGGATAGCTGAGAAACCA	0.383000													17	53					0	0	0.006122	0	0
OVCH2	341277	broad.mit.edu	37	11	7722003	7722003	+	RNA	SNP	C	C	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:7722003C>A	ENST00000454689.1	-	0	740				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)									p.R247R(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTTCTTATTCCGGCACATGA	0.512000													6	11					2.0095e-06	3.20782e-06	0.001984	1	0
KRT79	338785	broad.mit.edu	37	12	53227843	53227843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:53227843G>T	ENST00000330553.5	-	1	236	c.202C>A	c.(202-204)Cac>Aac	p.H68N		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	68	Head.					keratin filament	structural molecule activity	p.H68N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATACTCTTGTGGCCCCCCAAG	0.652000													8	44					6.5536e-12	1.11251e-11	0.003080	1	0
TNR	7143	broad.mit.edu	37	1	175355363	175355363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:175355363G>A	ENST00000367674.1	-	8	2290	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R528*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	528	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R528*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTTTGGCTCGAGGGGGAATC	0.552000													5	20					0	0	0.000602	0	0
OR4C15	81309	broad.mit.edu	37	11	55321870	55321870	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:55321870A>C	ENST00000314644.2	+	1	88	c.88A>C	c.(88-90)Aag>Cag	p.K30Q		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K30Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AATTGATCTGAAGCAAATTTT	0.343000										HNSCC(20;0.049)			4	168					0	0	0.000248	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:46620496A>G	ENST00000330070.4	-	2	2172	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P	HOXB2_ENST00000504772.3_5'UTR	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													3	133					0	0	0.004672	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770030	31770030	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:31770030G>A	ENST00000240587.4	-	2	996	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	223					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y223Y(1)|p.Y40Y(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCAGGGTGTCGTAGGCAGCGC	0.592000													33	131					0	0	0.003271	0	0
GLCCI1	113263	broad.mit.edu	37	7	8062112	8062112	+	Splice_Site	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:8062112G>A	ENST00000223145.5	+	3	1166		c.e3-1		GLCCI1_ENST00000474269.1_Splice_Site	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1									p.?(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		attttttaaaGACACCTAGCT	0.348000													4	43					0	0	0.000602	0	0
MET	4233	broad.mit.edu	37	7	116435946	116435946	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:116435946A>G	ENST00000397752.3	+	21	4141	c.3941A>G	c.(3940-3942)gAa>gGa	p.E1314G	MET_ENST00000318493.6_Missense_Mutation_p.E1332G|MET_ENST00000539704.1_Missense_Mutation_p.E184G	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1314	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.E1332G(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACAGATATGAAGTAATGCTA	0.428000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				20	89					0	0	0.001523	0	0
DSC3	1825	broad.mit.edu	37	18	28588282	28588282	+	Silent	SNP	G	G	A	rs138254140		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr18:28588282G>A	ENST00000434452.1	-	10	1627	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_ENST00000360428.4_Silent_p.N491N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	491	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.N491N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388000													5	46					0	0	0.000602	0	0
OTOGL	283310	broad.mit.edu	37	12	80704403	80704403	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:80704403G>A	ENST00000458043.2	+	29	3325	c.3319G>A	c.(3319-3321)Gat>Aat	p.D1107N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1107N	NM_173591.3	NP_775862.3			otogelin-like									p.D1107N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAAAGTCCAGATGAAACAAT	0.343000													8	75					0	0	0.004482	0	0
ENPP3	5169	broad.mit.edu	37	6	131973770	131973770	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr6:131973770G>A	ENST00000414305.1	+	5	694	c.366G>A	c.(364-366)agG>agA	p.R122R	ENPP3_ENST00000543135.1_Silent_p.R88R|ENPP3_ENST00000358229.5_Silent_p.R122R|ENPP3_ENST00000357639.3_Silent_p.R122R|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Silent_p.R88R			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	122	SMB 2.			R -> K (in Ref. 1; AAC51813).	immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R122R(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTTTGCAGAGGAAAGATTGCT	0.448000													10	82					0	0	0.001368	0	0
NVL	4931	broad.mit.edu	37	1	224495875	224495875	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:224495875C>T	ENST00000281701.6	-	6	692	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	NVL_ENST00000482491.1_Intron|NVL_ENST00000391875.2_Missense_Mutation_p.E39K|NVL_ENST00000340871.4_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.E39K|NVL_ENST00000469075.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	145						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	p.E145K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GAGGTGGTTTCTCTTTGCTCC	0.433000													7	110					0	0	0.001984	0	0
ZNF479	90827	broad.mit.edu	37	7	57188673	57188673	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:57188673G>C	ENST00000331162.4	-	5	719	c.449C>G	c.(448-450)tCa>tGa	p.S150*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S150*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGGGTAGTTGACAAACATTG	0.299000													9	118					0	0	0.000673	0	0
BZW2	28969	broad.mit.edu	37	7	16736596	16736596	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:16736596G>A	ENST00000433922.2	+	9	1057	c.879G>A	c.(877-879)gtG>gtA	p.V293V	BZW2_ENST00000407633.1_Silent_p.V99V|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Silent_p.V217V|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Silent_p.V293V	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	293	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding	p.V293V(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AAACAGCAGTGATTGGTCTTC	0.443000													4	84					0	0	0.000248	0	0
DENND2A	27147	broad.mit.edu	37	7	140301553	140301553	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:140301553C>G	ENST00000275884.6	-	2	1062	c.645G>C	c.(643-645)caG>caC	p.Q215H	DENND2A_ENST00000492720.1_Missense_Mutation_p.Q215H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Q215H|DENND2A_ENST00000537639.1_Missense_Mutation_p.Q215H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	215								p.Q215H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGTGGACCCTCTGGCTGACTT	0.632000													5	128					0	0	0.000602	0	0
SPTBN4	57731	broad.mit.edu	37	19	41078030	41078030	+	Silent	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:41078030C>G	ENST00000352632.3	+	34	7511	c.7425C>G	c.(7423-7425)ctC>ctG	p.L2475L	SPTBN4_ENST00000392025.1_Silent_p.L1218L|SPTBN4_ENST00000598249.1_Silent_p.L2475L|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2475	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L2475L(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACCGCTGCTCAGCCTGCACA	0.597000													11	146					0	0	0.000673	0	0
CYP4F2	8529	broad.mit.edu	37	19	15997064	15997064	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:15997064A>G	ENST00000221700.5	-	8	1068	c.973T>C	c.(973-975)Ttt>Ctt	p.F325L	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Missense_Mutation_p.F325L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	325					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.F325L(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAAACATAAAGGTGTCAGCT	0.562000													50	236					0	0	0.003610	0	0
LINC00969	440993	broad.mit.edu	37	3	195404612	195404612	+	RNA	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:195404612C>T	ENST00000445430.1	+	0	1469																											TAAAGTCCCTCCAATTAAACC	0.348000													8	22					0	0	0.006214	0	0
CYP4V2	285440	broad.mit.edu	37	4	187122497	187122497	+	Splice_Site	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr4:187122497G>T	ENST00000378802.4	+	7	1291		c.e7+1			NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2						response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CATGTTTGAGGTATTGTATAT	0.313000													9	72					9.70103e-10	1.6076e-09	0.000673	1	0
MLLT10	8028	broad.mit.edu	37	10	22015199	22015199	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:22015199C>T	ENST00000377072.3	+	16	2301	c.1953C>T	c.(1951-1953)ctC>ctT	p.L651L	MLLT10_ENST00000446906.2_Silent_p.L635L|MLLT10_ENST00000377059.3_Silent_p.L635L|MLLT10_ENST00000307729.7_Silent_p.L635L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	651	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L635L(1)|p.L651L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATCTTCTCTCAGTCAGGCAC	0.313000			T	"""MLL, PICALM, CDK6"""	AL								24	231					0	0	0.005443	0	0
CACNA1C	775	broad.mit.edu	37	12	2566832	2566832	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:2566832C>T	ENST00000399655.1	+	5	982	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CACNA1C_ENST00000399641.1_Silent_p.F239F|CACNA1C_ENST00000399617.1_Silent_p.F239F|CACNA1C_ENST00000399638.1_Silent_p.F239F|CACNA1C_ENST00000480911.1_Silent_p.F239F|CACNA1C_ENST00000399597.1_Silent_p.F239F|CACNA1C_ENST00000399591.1_Silent_p.F239F|CACNA1C_ENST00000347598.4_Silent_p.F239F|CACNA1C_ENST00000399595.1_Silent_p.F239F|CACNA1C_ENST00000344100.3_Silent_p.F239F|CACNA1C_ENST00000335762.5_Silent_p.F239F|CACNA1C_ENST00000399634.1_Silent_p.F239F|CACNA1C_ENST00000327702.7_Silent_p.F239F|CACNA1C_ENST00000399649.1_Silent_p.F239F|CACNA1C_ENST00000399637.1_Silent_p.F239F|CACNA1C_ENST00000399601.1_Silent_p.F239F|CACNA1C_ENST00000399629.1_Silent_p.F239F|CACNA1C_ENST00000406454.3_Silent_p.F239F|CACNA1C_ENST00000399644.1_Silent_p.F239F|CACNA1C_ENST00000402845.3_Silent_p.F239F|CACNA1C_ENST00000399606.1_Silent_p.F239F|CACNA1C_ENST00000399603.1_Silent_p.F239F|CACNA1C_ENST00000399621.1_Silent_p.F239F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	239					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.F239F(3)|p.F269F(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAGGGCCTTCCGCGTGCTGC	0.557000													18	283					0	0	0.001216	0	0
THADA	63892	broad.mit.edu	37	2	43779386	43779386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr2:43779386G>A	ENST00000405006.4	-	18	3118	c.2767C>T	c.(2767-2769)Cga>Tga	p.R923*	THADA_ENST00000405975.2_Nonsense_Mutation_p.R923*|THADA_ENST00000415080.2_Nonsense_Mutation_p.R633*|THADA_ENST00000330266.7_Nonsense_Mutation_p.R633*|THADA_ENST00000402360.2_Nonsense_Mutation_p.R923*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	923							binding	p.R923*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGTGGACTCGCCCATACATT	0.408000													4	18					0	0	0.000248	0	0
DDHD2	23259	broad.mit.edu	37	8	38105235	38105235	+	Missense_Mutation	SNP	C	C	T	rs145943165	byFrequency	TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:38105235C>T	ENST00000397166.2	+	10	1655	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	DDHD2_ENST00000517385.1_5'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.S377L|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	377					lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.S377L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTTTAGGATTCGCTAAATATT	0.294000													6	76					0	0	0.001168	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508105	14508105	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:14508105G>T	ENST00000454876.2	+	7	1143	c.814G>T	c.(814-816)Gca>Tca	p.A272S	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A272S			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	272				A -> R (in Ref. 1; CAA79481).	cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.A272S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGGCGCGGGCGCAGGCATCAA	0.622000													17	50					2.5808e-16	4.44613e-16	0.006122	1	0
C6	729	broad.mit.edu	37	5	41160464	41160464	+	Silent	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:41160464G>T	ENST00000263413.3	-	11	1728	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.A488A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	488	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.A488A(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCACGATGGGGGCAAGCTAGG	0.502000													14	59					2.61681e-11	4.42064e-11	0.002450	1	0
USH2A	7399	broad.mit.edu	37	1	216348701	216348701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:216348701G>T	ENST00000366943.2	-	21	4906	c.4520C>A	c.(4519-4521)tCa>tAa	p.S1507*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.S1507*|USH2A_ENST00000307340.3_Nonsense_Mutation_p.S1507*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1507					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S1507*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTAGAGATGACTCTCTCCT	0.443000										HNSCC(13;0.011)			12	34					3.07112e-06	4.83597e-06	0.000978	1	0
FAM135B	51059	broad.mit.edu	37	8	139144882	139144882	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr8:139144882A>G	ENST00000395297.1	-	20	4345	c.4175T>C	c.(4174-4176)tTc>tCc	p.F1392S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1392								p.F1392S(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTCTCCAGGAAGAGTTCTGA	0.522000										HNSCC(54;0.14)			5	265					0	0	0.001168	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209814	19209814	+	Missense_Mutation	SNP	C	C	A	rs138334153		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:19209814C>A	ENST00000375341.3	-	6	819	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.V188L|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V188L|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V128L	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	188					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.V188L(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CTCGGGGGCACGCTGATGGGC	0.637000													11	33					3.07112e-06	4.83597e-06	0.000978	1	0
SYT13	57586	broad.mit.edu	37	11	45274044	45274044	+	Silent	SNP	G	G	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr11:45274044G>A	ENST00000020926.3	-	4	885	c.774C>T	c.(772-774)ctC>ctT	p.L258L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	258	C2 1.					transport vesicle		p.L258L(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGCCCAGGCGGAGCTCCCCGG	0.662000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	57					0	0	0.000602	0	0
SMG7	9887	broad.mit.edu	37	1	183502430	183502430	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:183502430G>T	ENST00000367537.3	+	10	1257	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	SMG7_ENST00000515829.2_Missense_Mutation_p.Q325H|SMG7_ENST00000347615.2_Missense_Mutation_p.Q325H|SMG7_ENST00000507469.1_Missense_Mutation_p.Q325H|SMG7_ENST00000508461.1_Missense_Mutation_p.Q283H|SMG7_ENST00000456731.2_Missense_Mutation_p.Q283H			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	325					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.Q325H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAGATGAGCAGCTATGTTGGA	0.398000													26	125					2.65835e-16	4.55716e-16	0.007291	1	0
PRRX1	5396	broad.mit.edu	37	1	170695400	170695400	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:170695400G>C	ENST00000239461.6	+	3	770	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	PRRX1_ENST00000497230.2_Missense_Mutation_p.E153Q|PRRX1_ENST00000367760.3_Missense_Mutation_p.E153Q|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E153Q(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCGCAGGAATGAGAGAGCCAT	0.512000													5	25					0	0	0.001168	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59901643	59901643	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr5:59901643C>G	ENST00000265036.5	-	8	1006	c.939G>C	c.(937-939)caG>caC	p.Q313H	DEPDC1B_ENST00000509006.1_5'UTR|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q313H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q286H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	313	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q313H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GGCAGCAAATCTGAAATGCTT	0.378000													9	141					0	0	0.004482	0	0
ZNF566	84924	broad.mit.edu	37	19	36940775	36940775	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr19:36940775C>T	ENST00000454319.1	-	5	498	c.364G>A	c.(364-366)Gat>Aat	p.D122N	ZNF566_ENST00000434377.2_Missense_Mutation_p.D121N|ZNF566_ENST00000493391.1_Missense_Mutation_p.D17N|ZNF566_ENST00000392170.2_Missense_Mutation_p.D122N|ZNF566_ENST00000424129.2_Missense_Mutation_p.D121N	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D121N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATTCCCAATCATCTCTGAAA	0.383000													11	176					0	0	0.001368	0	0
SV2B	9899	broad.mit.edu	37	15	91769556	91769556	+	Silent	SNP	C	C	T			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:91769556C>T	ENST00000394232.1	+	2	533	c.63C>T	c.(61-63)cgC>cgT	p.R21R	SV2B_ENST00000330276.4_Silent_p.R21R|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	21					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R21R(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCTATTACCGCGGCAATGAGT	0.522000													7	31					0	0	0.003080	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577073	158577073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr1:158577073delC	ENST00000361284.1	+	1	845	c.845delC	c.(844-846)acfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ACTGTAGTGACCCCCCTCCTT	0.458													21	284	---	---	---	---					
SEMA3B	7869	broad.mit.edu	37	3	50312960	50312960	+	RNA	DEL	G	G	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr3:50312960delG	ENST00000418948.1	+	0	1883							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGAAAGAAGGGCTCACAGA	0.672													17	72	---	---	---	---					
WBSCR28	135886	broad.mit.edu	37	7	73280192	73280193	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:73280192_73280193delCC	ENST00000320531.2	+	3	823_824	c.787_788delCC	c.(787-789)cfs	p.P263fs		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	263						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAAGAAACTCCCAGAGAATAA	0.540													21	147	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82544361	82544361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr7:82544361delA	ENST00000423517.2	-	7	13278	c.12941delT	c.(12940-12942)cafs	p.L4314fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.L4314fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.L1034fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4245					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCAGTCTTAGGGAAGAGCT	0.453													7	38	---	---	---	---					
DAPK1	1612	broad.mit.edu	37	9	90315030	90315037	+	Splice_Site	DEL	AGGTTTGG	AGGTTTGG	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr9:90315030_90315037delAGGTTTGG	ENST00000469640.2	+	24	3125_3131	c.2750_splice	c.e24-1	p.917_splice	DAPK1_ENST00000472284.1_Splice_Site_p.917_splice|DAPK1_ENST00000408954.3_Splice_Site_p.917_splice|DAPK1_ENST00000358077.5_Splice_Site_p.917_splice|DAPK1_ENST00000491893.1_Splice_Site_p.851_splice			P53355	DAPK1_HUMAN	death-associated protein kinase 1	917					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTCTTCCCTTAGGTTTGGAAATGATCTT	0.490									Chronic Lymphocytic Leukemia, Familial Clustering of				11	82	---	---	---	---					
WAPAL	23063	broad.mit.edu	37	10	88213425	88213442	+	In_Frame_Del	DEL	TTAAATTAAGCAACACCC	TTAAATTAAGCAACACCC	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr10:88213425_88213442delTTAAATTAAGCAACACCC	ENST00000298767.5	-	13	3276_3293	c.2804_2821delGGGTGTTGCTTAATTTAA	c.(2803-2823)gct>g	p.GVLLNLT935del	WAPAL_ENST00000372075.1_In_Frame_Del_p.GVLLNLT202del|WAPAL_ENST00000263070.7_In_Frame_Del_p.GVLLNLT202del	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	935	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTATCATTAGTTAAATTAAGCAACACCCCGATGATGGC	0.394													9	96	---	---	---	---					
NCOR2	9612	broad.mit.edu	37	12	124957515	124957516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr12:124957515_124957516insA	ENST00000356219.3	-	5	728_729	c.573_574insT	c.(571-576)tcagctfs	p.A192fs	NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A192fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.A192fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A192fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A192fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	192					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTCTTCAGCTTAGAGATCTGCT	0.574													22	186	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42042623	42042629	+	Frame_Shift_Del	DEL	ACTTACT	ACTTACT	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr15:42042623_42042629delACTTACT	ENST00000219905.7	+	17	6999_7005	c.6818_6824delACTTACT	c.(6817-6825)cgfs	p.HLL2273fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.HLL2064fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.HLL2064fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.HLL2234fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.HLL2273fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2234						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTTCAGGGTCACTTACTGCTACCTGGA	0.440													12	42	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Frame_Shift_Del	DEL	C	C	-	rs17882252		TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr17:7574012delC	ENST00000269305.4	-	10	1204	c.1015delG	c.(1015-1017)agfs	p.E339fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.E339fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; 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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)		CGGAACATCTCGAAGCGCTCA	0.537		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)			12	33	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6712-01A-11D-1855-08	TCGA-55-6712-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc6eaf2b-9ccc-4ac7-9b19-204b0ff420a3	46dd81ba-62e9-42bb-8a84-461d79531d24	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													8	308	---	---	---	---