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
TUBB8	347688	broad.mit.edu	37	10	94562	94562	+	Missense_Mutation	SNP	G	G	A	rs145350711	byFrequency	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:94562G>A	ENST00000332708.5	-	2	191	c.161C>T	c.(160-162)tCa>tTa	p.S54L	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.F90F|TUBB8_ENST00000447903.2_Silent_p.F18F			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	0					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CACCGAAGATGAAGTTGTCTG	0.637000													18	29					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423533	88423533	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:88423533T>C	ENST00000394480.1	-	18	2581	c.2260A>G	c.(2260-2262)Aag>Gag	p.K754E	NTRK3_ENST00000360948.2_Missense_Mutation_p.K768E|NTRK3_ENST00000357724.2_Missense_Mutation_p.K760E|NTRK3_ENST00000355254.2_Missense_Mutation_p.K754E|NTRK3_ENST00000557856.1_Missense_Mutation_p.K746E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	768	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGCTGCTTTCCATAGGTG	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			24	94					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490737	65490737	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:65490737G>A	ENST00000261883.4	-	9	2053	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	629					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AAATATTCCGGGGATCCAGGA	0.527000													33	116					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22394187	22394187	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:22394187G>A	ENST00000334304.5	-	17	2877	c.2608C>T	c.(2608-2610)Cca>Tca	p.P870S	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	870					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTCTTGGTGGAGGTGGTGGT	0.373000													21	53					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539360	120539360	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:120539360C>T	ENST00000602566.1	-	6	1089	c.644G>A	c.(643-645)aGa>aAa	p.R215K	NOTCH2_ENST00000256646.2_Intron			Q04721	NOTC2_HUMAN	notch 2	828	EGF-like 5; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCTTATTTCTCACTGTTTC	0.398000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				12	61					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6387447	6387447	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:6387447G>A	ENST00000394456.5	-	5	914	c.450C>T	c.(448-450)gcC>gcT	p.A150A	GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TGCGATGCCGGGCCAGCGGTG	0.627000													12	70					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5800642	5800642	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:5800642C>T	ENST00000425013.2	-	2	283	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	RNF216_ENST00000389902.3_Missense_Mutation_p.R20Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	20					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACCTTGTCCCCGATGGCAGTG	0.378000													26	26					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545616	82545616	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82545616G>A	ENST00000423517.2	-	7	12023	c.11686C>T	c.(11686-11688)Cct>Tct	p.P3896S	PCLO_ENST00000333891.8_Missense_Mutation_p.P3896S|PCLO_ENST00000437081.1_Missense_Mutation_p.P616S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3827	Gln-rich.				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						GCTTGGGTAGGAAGAGCAGGG	0.443000													90	335					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538652	152538652	+	Silent	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152538652T>C	ENST00000368789.1	-	2	88	c.33A>G	c.(31-33)caA>caG	p.Q11Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	11					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGGTGGGGGTTGGCACTGCT	0.562000													69	42					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14564695	14564695	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:14564695C>T	ENST00000273083.3	-	0	556							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGGACCTTGTCCTTGCTATCC	0.512000													4	5					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405705	106405705	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:106405705C>T	ENST00000390593.2	-	0	320																											GATGGTTATTCGACTTTTCAC	0.493000													67	90					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654918	247654918	+	RNA	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:247654918G>A	ENST00000522351.1	+	0	549							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCTCAGACGATGCAGCTCT	0.557000													33	73					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80083553	80083553	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:80083553C>T	ENST00000328827.4	-	2	844	c.472G>A	c.(472-474)Gag>Aag	p.E158K	PAWR_ENST00000547571.1_5'UTR	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	158	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGCCGCTTCTCCCGCAGCTTC	0.731000													3	5					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27105628	27105628	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:27105628C>T	ENST00000324856.7	+	20	5610	c.5239C>T	c.(5239-5241)Cct>Tct	p.P1747S	ARID1A_ENST00000540690.1_Missense_Mutation_p.P75S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1364S|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1530S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1747					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1740fs*19(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACTGGATCCTGGGAGGTT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								57	19					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78412625	78412625	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:78412625T>C	ENST00000278550.7	-	28	5495	c.5033A>G	c.(5032-5034)aAt>aGt	p.N1678S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AAGGCCGGAATTGCCATGGTA	0.453000													11	7					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228604	4228604	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:4228604G>A	ENST00000379453.4	-	1	1117	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	334					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGGCGCACGGAGAGCGAGCT	0.662000													7	11					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055774	94055774	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:94055774G>A	ENST00000297268.6	+	46	3508	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1013					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		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)	AGAGCCCGGTGAAAAGGGGCC	0.478000										HNSCC(75;0.22)			10	5					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905392	905392	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:905392C>T	ENST00000579794.1	+	1	283	c.5C>T	c.(4-6)aCc>aTc	p.T2I	RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.T2I	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	2					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGCAGAATGACCATGTGTAGC	0.637000													23	27					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389640	48389640	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:48389640G>A	ENST00000224600.4	-	1	1351	c.1238C>T	c.(1237-1239)cCa>cTa	p.P413L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	413	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCAACTCTGGGGCCACCCC	0.637000													21	14					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101847806	101847806	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:101847806C>T	ENST00000360264.3	+	19	3096	c.3076C>T	c.(3076-3078)Cta>Tta	p.L1026L	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.L1015L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.L857L|CUX1_ENST00000550008.2_Silent_p.L959L|CUX1_ENST00000549414.2_Silent_p.L993L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.L913L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1015					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGGTGTTCTACCCGTCCA	0.652000													33	83					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278832	152278832	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152278832C>T	ENST00000368799.1	-	3	8565	c.8530G>A	c.(8530-8532)Gag>Aag	p.E2844K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2844	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.567000									Ichthyosis				294	917					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729996	237729996	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:237729996T>C	ENST00000366574.2	+	28	3661	c.3344T>C	c.(3343-3345)gTt>gCt	p.V1115A	RYR2_ENST00000542537.1_Missense_Mutation_p.V1099A|RYR2_ENST00000360064.6_Missense_Mutation_p.V1113A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1115	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGAGGGTTGGTTGGAGT	0.532000													132	191					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168493	142168493	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:142168493C>T	ENST00000454561.2	-	0	430																											AGGGAAGTTTCCTCTGCCATT	0.517000													13	82					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100992375	100992375	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:100992375C>T	ENST00000335290.6	+	5	1496	c.1270C>T	c.(1270-1272)Cac>Tac	p.H424Y	WDR25_ENST00000402312.3_Missense_Mutation_p.H424Y|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000554998.1_Missense_Mutation_p.H424Y|WDR25_ENST00000542471.2_Missense_Mutation_p.H167Y	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	424										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCAGATTTTCCACGTAAGAAA	0.532000													7	30					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501479	150501479	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:150501479C>T	ENST00000484928.1	+	6	1166	c.585C>T	c.(583-585)ctC>ctT	p.L195L	TMEM176A_ENST00000004103.3_Silent_p.L195L|TMEM176A_ENST00000461345.1_Silent_p.L136L			Q96HP8	T176A_HUMAN	transmembrane protein 176A	195						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCCATGCTCTTGGGTGTCT	0.567000													55	39					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429440	20429440	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:20429440C>T	ENST00000331849.4	+	3	411	c.264C>T	c.(262-264)atC>atT	p.I88I	ACSM5_ENST00000575584.1_Silent_p.I88I	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	88					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGCAGAGATCAAGTGGAGCT	0.557000													12	44					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167792341	167792341	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:167792341A>C	ENST00000367848.1	-	29	4294	c.3797T>G	c.(3796-3798)gTg>gGg	p.V1266G	ADCY10_ENST00000545172.1_Missense_Mutation_p.V1205G|ADCY10_ENST00000367851.4_Missense_Mutation_p.V1358G|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1358					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCGCCCCAGCACCTGGATCAA	0.468000													45	39					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067360	190067360	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:190067360C>T	ENST00000367462.3	-	8	2320	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D595N	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		697						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTGCTGAATCCTGGGATCCC	0.468000													31	71					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545582	234545582	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:234545582G>A	ENST00000344644.5	+	1	483	c.414G>A	c.(412-414)aaG>aaA	p.K138K	UGT1A10_ENST00000373445.1_Silent_p.K138K|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATACTTAAAGGAGAGTTCTT	0.368000													64	43					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543823	54543823	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:54543823C>T	ENST00000566473.2	+	14	1673	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	ANKFN1_ENST00000318698.2_Missense_Mutation_p.S558L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	558										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCTTTATTCATTTTTTAAT	0.418000													12	34					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100200610	100200610	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:100200610C>T	ENST00000209668.2	-	8	1189	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	359					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTCAAATCCTTCATTTAT	0.328000													29	19					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:123813896G>A	ENST00000321252.2	-	1	684	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542000													12	22					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579887	7579887	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:7579887G>T	ENST00000379802.3	+	23	3805	c.3464G>T	c.(3463-3465)tGg>tTg	p.W1155L	DSP_ENST00000418664.2_Missense_Mutation_p.W1155L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1155	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACCTTGGTTGGCAGAAATTA	0.433000													21	41					2.89027e-11	2.90768e-11	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97356795	97356795	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:97356795G>A	ENST00000389672.5	+	14	2691	c.2653G>A	c.(2653-2655)Gat>Aat	p.D885N	EPHA6_ENST00000514100.1_Missense_Mutation_p.D277N|EPHA6_ENST00000502694.1_Missense_Mutation_p.D277N|EPHA6_ENST00000442602.2_3'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTATCTTTCTGATATGGGTTA	0.453000													28	91					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76789962	76789962	+	Silent	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:76789962T>C	ENST00000287239.4	+	18	5869	c.5380T>C	c.(5380-5382)Tta>Cta	p.L1794L	KAT6B_ENST00000372714.1_Silent_p.L1502L|KAT6B_ENST00000372711.1_Silent_p.L1611L|KAT6B_ENST00000372724.1_Silent_p.L1502L|KAT6B_ENST00000372725.1_Silent_p.L1502L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1794	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAACATTGGCTTATACGAGCG	0.562000													13	18					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236343186	236343186	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:236343186C>T	ENST00000366592.3	+	4	786	c.695C>T	c.(694-696)tCc>tTc	p.S232F	GPR137B_ENST00000366591.4_Missense_Mutation_p.S141F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	232						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAGGGCTCCTCCGTGTGTCAA	0.557000													97	108					0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134364	71134364	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:71134364T>G	ENST00000256367.2	+	2	833	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	164							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGGGGAGAACTTCAAGGCCCT	0.512000													41	59					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52550414	52550414	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:52550414G>A	ENST00000321725.6	+	39	4263	c.4187G>A	c.(4186-4188)gGg>gAg	p.G1396E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1396					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCTGCAAGGGGACGGAAGC	0.632000													30	81					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76456130	76456130	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:76456130G>A	ENST00000396423.2	+	2	297	c.173G>A	c.(172-174)gGa>gAa	p.G58E	HNF4G_ENST00000354370.1_Missense_Mutation_p.G21E	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	21					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGAGCAACAGGAAAACACTAT	0.463000													28	21					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21907529	21907529	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:21907529G>A	ENST00000328843.6	+	73	11795	c.11764G>A	c.(11764-11766)Gac>Aac	p.D3922N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D3915N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3922	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACCAGATTGGACTTAGTTAA	0.423000									Kartagener syndrome				3	3					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147068	26147068	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:26147068C>T	ENST00000331351.5	+	2	1262	c.870C>T	c.(868-870)ccC>ccT	p.P290P	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	290					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGAGAAACCCCGTGACCAGGG	0.532000													57	85					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39293030	39293030	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:39293030G>A	ENST00000307751.4	-	8	1062	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	195	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCAGCCTCCCGAAATATGGCA	0.502000													40	33					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10258705	10258705	+	Silent	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:10258705T>C	ENST00000256458.4	+	7	966	c.876T>C	c.(874-876)ggT>ggC	p.G292G		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	292	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGGCAAATGGTTCCCTACAGG	0.552000													36	32					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100522785	100522785	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:100522785G>A	ENST00000457717.1	+	11	1514	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.G420S|MTTP_ENST00000511045.1_Missense_Mutation_p.G447S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	420	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGGTTCTATTGGTAGCAGTGA	0.348000													11	64					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42191041	42191041	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:42191041G>A	ENST00000006724.3	-	2	377	c.176C>T	c.(175-177)tCc>tTc	p.S59F	CEACAM7_ENST00000338196.4_Missense_Mutation_p.S59F|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S59F|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S59F	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	59	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AAGATTCTGGGACTCATTATG	0.438000													75	40					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:52321411G>A	ENST00000356297.4	-	17	2873	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P925S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000													15	11					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114422904	114422904	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:114422904G>A	ENST00000317135.8	-	2	409	c.379C>T	c.(379-381)Cct>Tct	p.P127S	LRCH2_ENST00000538422.1_Missense_Mutation_p.P127S	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	127										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACATCAGAAGGAATTTCTGTA	0.294000													3	4					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278059	89278059	+	RNA	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:89278059G>A	ENST00000390247.2	-	0	372																											TGGTGAGAGTGAAGTCTGTCC	0.512000													31	32					0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14627707	14627707	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:14627707C>T	ENST00000254322.2	-	2	433	c.363G>A	c.(361-363)ggG>ggA	p.G121G	DNAJB1_ENST00000396969.4_Silent_p.G21G	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	121					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TGCCTTCCTCCCCGTTCCGCT	0.547000													36	24					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786895	125786895	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:125786895C>T	ENST00000360370.4	-	2	211	c.168G>A	c.(166-168)gaG>gaA	p.E56E	SLC41A3_ENST00000315891.6_Silent_p.E56E|SLC41A3_ENST00000346785.5_Silent_p.E56E|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR			Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	56						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCCTGCTAGGCTCAGTCTCCA	0.612000													70	85					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	21					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205585717	205585717	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:205585717G>A	ENST00000357992.4	-	5	1592	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L		NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AGGGGTGGAAGGTCCATCCAG	0.458000			T	SLC45A3	prostate								18	34					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919361	227919361	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:227919361C>T	ENST00000396625.3	-	31	3016	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E937K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	937	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGCCCTTCTCTCCAGGTTCT	0.547000													8	45					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900476	123900476	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:123900476G>A	ENST00000431524.1	+	1	180	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGATCAGGGTGGATTCTCACC	0.557000													30	52					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	65					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228755	57228755	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:57228755C>T	ENST00000396721.2	-	2	282	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SDR16C5_ENST00000303749.3_Missense_Mutation_p.G51E|SDR16C5_ENST00000522671.1_Missense_Mutation_p.G51E			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	51					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CCTTCCGAGTCCACTTCCAGC	0.483000													19	30					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419275	130419275	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:130419275G>A	ENST00000370904.1	-	11	1428	c.518C>T	c.(517-519)gCc>gTc	p.A173V	IGSF1_ENST00000370903.3_Missense_Mutation_p.A182V|IGSF1_ENST00000370901.4_Missense_Mutation_p.A182V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A182V|IGSF1_ENST00000370900.1_Missense_Mutation_p.A182V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A173V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	182	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			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						GGAGAATATGGCCATTGTCCC	0.512000													45	23					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18314777	18314777	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:18314777G>A	ENST00000441493.2	-	21	3250	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	966	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGATCCGCACGGCCTCCTTCC	0.592000													4	9					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377324	55377324	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:55377324C>T	ENST00000326321.3	+	7	1098	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	KIR3DL1_ENST00000402254.2_Silent_p.L355L|KIR3DL2_ENST00000270442.5_Silent_p.L338L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	355					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tcatcctcctcctcttctttc	0.502000													24	8					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241875	160241875	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:160241875T>G	ENST00000392783.2	-	23	3972	c.3477A>C	c.(3475-3477)aaA>aaC	p.K1159N	BAZ2B_ENST00000392782.1_Missense_Mutation_p.K1123N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K1125N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.K1059N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAAGAGCTGTTTTAGCCTATA	0.323000													22	11					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118225630	118225630	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:118225630C>T	ENST00000369230.3	+	8	1023	c.877C>T	c.(877-879)Cct>Tct	p.P293S		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	293					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CATTCTTAATCCTGATGCATT	0.308000													10	15					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089873	12089873	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:12089873C>T	ENST00000235332.4	+	7	936	c.767C>T	c.(766-768)cCc>cTc	p.P256L	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.P256L	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	256	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCTGTGGATCCCGGTACCCCC	0.667000													21	6					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	67					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64142934	64142934	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:64142934G>A	ENST00000295902.6	-	5	1089	c.504C>T	c.(502-504)ctC>ctT	p.L168L	PRICKLE2_ENST00000564377.1_Silent_p.L224L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	168	LIM zinc-binding 1.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GATCCACCAGGAGCTCATTGC	0.567000													7	22					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26667998	26667998	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:26667998G>A	ENST00000264866.4	+	9	913	c.635G>A	c.(634-636)gGt>gAt	p.G212D	TBC1D19_ENST00000511789.1_Missense_Mutation_p.G147D	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	212						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGACAACTGGGTATAGATGAT	0.343000													22	36					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180144484	180144484	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:180144484C>T	ENST00000367602.3	+	3	469	c.395C>T	c.(394-396)tCg>tTg	p.S132L	QSOX1_ENST00000367600.5_Missense_Mutation_p.S132L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	132	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGAACGGCTCGGGAGCAGTA	0.547000													37	49					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427765	47427765	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:47427765G>A	ENST00000295454.3	+	9	1447	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	GABRB1_ENST00000538619.1_Silent_p.T315T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	385					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTGCTCACGAGCGTGAGCG	0.622000													34	24					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760815	2760815	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:2760815G>A	ENST00000399655.1	+	32	4220	c.3955G>A	c.(3955-3957)Gaa>Aaa	p.E1319K	CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1367K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1341K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1319K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1319K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1339K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1336K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1319K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1347K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1306K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1344K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1308K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1308K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1319K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1319K	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	1367					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			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)	GAACGCAGAGGAAAACTCCCG	0.612000													31	47					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350745	134350745	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:134350745C>T	ENST00000357304.4	+	15	3284	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1077							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTTCACTTTTCGTGGTCGGCC	0.627000													23	4					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482054	39482054	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:39482054C>T	ENST00000513652.1	+	0	180																											CAGACTGCCTCTGTCATCAGG	0.662000													5	8					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28196959	28196959	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:28196959G>A	ENST00000354638.3	-	18	2077	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L	OCA2_ENST00000353809.5_Missense_Mutation_p.S617L|OCA2_ENST00000382996.2_Missense_Mutation_p.S641L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	641					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.S641W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGGACAAACGAATTGAGGAA	0.443000									Oculocutaneous Albinism				12	30					0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010835	173010835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:173010835C>T	ENST00000404377.3	-	3	272	c.272G>A	c.(271-273)tGg>tAg	p.W91*	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.W69*	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	91					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TGCCATTTGCCATTTTGAGGG	0.348000													48	106					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003615	119003615	+	Silent	SNP	G	G	A	rs363388	byFrequency	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:119003615G>A	ENST00000298472.5	+	3	398	c.255G>A	c.(253-255)tcG>tcA	p.S85S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	85					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATGATAACTCGACTATGGTCA	0.532000													22	29					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241864	109241864	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:109241864C>T	ENST00000370021.1	+	7	1167	c.530C>T	c.(529-531)tCt>tTt	p.S177F	PRPF38B_ENST00000370025.4_Missense_Mutation_p.S288F			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	288					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GGCCATGGGTCTTCTAGTTTT	0.502000													41	84					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623667	92623667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:92623667G>A	ENST00000298047.6	+	27	13175	c.13158G>A	c.(13156-13158)tgG>tgA	p.W4386*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.W4236*|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Nonsense_Mutation_p.W689*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W4354*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4386					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTATCACTGGGACACCTCTG	0.542000										TCGA Ovarian(4;0.039)			9	18					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:22024875C>T	ENST00000406385.1	+	3	163	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	PPIL2_ENST00000398831.3_Missense_Mutation_p.R35C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R35C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R35C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R35C|PPIL2_ENST00000412327.1_Missense_Mutation_p.R35C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368000													26	46					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136507525	136507525	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:136507525C>T	ENST00000393056.2	+	3	695	c.683C>T	c.(682-684)aCc>aTc	p.T228I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	228					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGCCAGGAGACCACGTACTGG	0.597000													15	2					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460171	107460171	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:107460171G>A	ENST00000409382.3	-	2	873	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S88F|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S88F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	88					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCATGAAAGGAACCGGCTGG	0.632000													38	24					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36588256	36588256	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:36588256G>A	ENST00000431169.1	-	15	1395	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	AOAH_ENST00000258749.5_Silent_p.I365I|AOAH_ENST00000538464.1_Silent_p.I87I|AOAH_ENST00000535891.1_Silent_p.I333I|AOAH_ENST00000491444.1_5'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	365					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CATATATAACGATGGCGGGAT	0.438000													61	38					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22361043	22361043	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:22361043G>A	ENST00000268383.2	-	3	627	c.320C>T	c.(319-321)gCc>gTc	p.A107V		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	107						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTGCTGTGAGGCCTTGCTGTC	0.413000													64	81					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890656	229890656	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:229890656C>T	ENST00000392054.3	-	4	778	c.439G>A	c.(439-441)Gac>Aac	p.D147N	PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.D149N|PID1_ENST00000409462.1_Missense_Mutation_p.D67N|PID1_ENST00000392055.3_Missense_Mutation_p.D116N	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	149	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTTTGTGGTCGAGATGATGG	0.587000													16	45					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839806	40839806	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:40839806C>T	ENST00000264638.4	+	8	1330	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	371					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.F371F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCACAACTTCGTTCAAGTGC	0.607000													60	33					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556293	29556293	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:29556293C>T	ENST00000383640.2	+	1	611	c.572C>T	c.(571-573)tCc>tTc	p.S191F	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	191					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAGACACCTCCTACAATGAG	0.547000													54	101					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12203093	12203093	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:12203093C>T	ENST00000432424.2	+	0	994							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCACGCTCACTCAGGCATGG	0.532000													12	24					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68204357	68204357	+	Splice_Site	SNP	A	A	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:68204357A>G	ENST00000262215.3	-	6	1030	c.639_splice	c.e6-1	p.L214_splice		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	214					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCTTCCTGTAACTGGAAATA	0.353000													28	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246630	113246630	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:113246630C>T	ENST00000297405.5	-	68	10948	c.10704G>A	c.(10702-10704)aaG>aaA	p.K3568K	CSMD3_ENST00000343508.3_Silent_p.K3528K|CSMD3_ENST00000455883.2_Silent_p.K3399K|CSMD3_ENST00000352409.3_Silent_p.K3498K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3568						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCATTTTCTTCACAGAAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	75					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													4	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9011382	9011382	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9011382T>A	ENST00000397910.4	-	36	39054	c.38851A>T	c.(38851-38853)Acc>Tcc	p.T12951S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12953	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						ATGCCATGGGTCAGCTGGCTC	0.567000													113	57					0	0	1	0	0
HESX1	8820	broad.mit.edu	37	3	57232472	57232472	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:57232472C>T	ENST00000295934.3	-	3	442	c.406G>A	c.(406-408)Gat>Aat	p.D136N	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TCTCTAATATCGATACCAGGA	0.289000													12	11					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341909	85341909	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:85341909C>T	ENST00000299927.3	+	5	2849	c.2827C>T	c.(2827-2829)Ccc>Tcc	p.P943S	ZNF592_ENST00000560079.2_Missense_Mutation_p.P943S			Q92610	ZN592_HUMAN	zinc finger protein 592	943					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTCGAGTTCCCACTGAGCC	0.652000													7	29					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52529693	52529693	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:52529693C>T	ENST00000261839.7	-	22	3015	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	952						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCACAGCATCCCTGTATCTC	0.512000													168	111					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066570	9066570	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9066570G>A	ENST00000397910.4	-	3	21079	c.20876C>T	c.(20875-20877)tCc>tTc	p.S6959F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6961	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6959F(2)|p.S2592F(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						GGCATTTTGGGAAATGCTGGT	0.448000													28	93					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:32209518C>T	ENST00000396193.1	-	3	780	c.187G>A	c.(187-189)Ggg>Agg	p.G63R		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517000													32	109					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392252	78392252	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:78392252C>T	ENST00000238561.5	+	9	1253	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ADCK1_ENST00000341211.5_Missense_Mutation_p.S317L|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	392	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGGCGCGATCGTGGGACTCG	0.602000													115	112					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196837	31196837	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:31196837C>T	ENST00000357033.4	-	70	10378	c.10172G>A	c.(10171-10173)cGa>cAa	p.R3391Q	DMD_ENST00000474231.1_Missense_Mutation_p.R931Q|DMD_ENST00000541735.1_Missense_Mutation_p.R931Q|DMD_ENST00000378702.4_Missense_Mutation_p.R323Q|DMD_ENST00000378677.2_Missense_Mutation_p.R3387Q|DMD_ENST00000378707.3_Missense_Mutation_p.R931Q|DMD_ENST00000343523.2_Missense_Mutation_p.R931Q|DMD_ENST00000361471.4_Missense_Mutation_p.R323Q|DMD_ENST00000378723.3_Missense_Mutation_p.R323Q|DMD_ENST00000378680.2_Missense_Mutation_p.R323Q|DMD_ENST00000359836.1_Missense_Mutation_p.R931Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3391	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTAGCCCATTCGGGGATGCTT	0.423000													26	22					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			203	70					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187443325	187443325	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:187443325G>A	ENST00000406870.2	-	8	2167	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P545S|BCL6_ENST00000232014.4_Missense_Mutation_p.P601S|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	601					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATTTGTAGGGCTTCTCTCCA	0.597000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								22	83					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121203198	121203198	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:121203198G>A	ENST00000392870.2	+	12	1529	c.1200G>A	c.(1198-1200)cgG>cgA	p.R400R	GRK5_ENST00000369108.3_Silent_p.R295R	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	400	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGGACCGCCGGGTCCTGGAGA	0.627000													11	14					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286175	223286175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:223286175G>A	ENST00000540964.1	-	4	660	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	TLR5_ENST00000342210.6_Missense_Mutation_p.P67S			O60602	TLR5_HUMAN	toll-like receptor 5	67					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCAGAAAGGGGAAGGATGAA	0.537000													17	81					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667830	106667830	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:106667830C>T	ENST00000390606.2	-	0	163																											TCAGGGACCCCCCAGGCCGTA	0.587000													43	74					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132423121	132423121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:132423121C>T	ENST00000326682.8	-	9	1521	c.1445G>A	c.(1444-1446)tGg>tAg	p.W482*	NPHP3_ENST00000337331.5_Nonsense_Mutation_p.W482*			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	482					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTATGTCCCACAGAACATC	0.408000													5	216					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581311	82581311	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82581311C>T	ENST00000423517.2	-	5	9295	c.8958G>A	c.(8956-8958)ggG>ggA	p.G2986G	PCLO_ENST00000333891.8_Silent_p.G2986G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2917					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						TTCCCCCAATCCCTCTATAAC	0.423000													157	82					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													5	326					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136381	220136381	+	RNA	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:220136381G>A	ENST00000490341.1	+	0	851					NR_003063.1																						TGGTGGCAGAGATTACCAATG	0.552000													14	59					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48667891	48667891	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:48667891C>T	ENST00000352832.5	+	10	2733	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A	CACNA1G_ENST00000505165.1_Silent_p.A787A|CACNA1G_ENST00000510366.1_Silent_p.A787A|CACNA1G_ENST00000360761.4_Silent_p.A787A|CACNA1G_ENST00000503485.1_Silent_p.A787A|CACNA1G_ENST00000502264.1_Silent_p.A787A|CACNA1G_ENST00000507609.1_Silent_p.A787A|CACNA1G_ENST00000507896.1_Silent_p.A787A|CACNA1G_ENST00000514181.1_Silent_p.A787A|CACNA1G_ENST00000515411.1_Silent_p.A787A|CACNA1G_ENST00000429973.2_Silent_p.A787A|CACNA1G_ENST00000359106.5_Silent_p.A787A|CACNA1G_ENST00000507510.2_Silent_p.A787A|CACNA1G_ENST00000507336.1_Silent_p.A787A|CACNA1G_ENST00000442258.2_Silent_p.A787A|CACNA1G_ENST00000514717.1_Silent_p.A787A|CACNA1G_ENST00000416767.4_Silent_p.A787A|CACNA1G_ENST00000514079.1_Silent_p.A787A|CACNA1G_ENST00000515765.1_Silent_p.A787A|CACNA1G_ENST00000358244.5_Silent_p.A787A|CACNA1G_ENST00000515165.1_Silent_p.A787A|CACNA1G_ENST00000354983.4_Silent_p.A787A|CACNA1G_ENST00000513964.1_Silent_p.A787A|CACNA1G_ENST00000512389.1_Silent_p.A787A|CACNA1G_ENST00000513689.2_Silent_p.A787A|CACNA1G_ENST00000510115.1_Silent_p.A787A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	787					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCTTTGCCCTGGAGATGC	0.522000													17	43					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38151622	38151622	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:38151622T>G	ENST00000308059.6	+	23	3314	c.3293T>G	c.(3292-3294)cTc>cGc	p.L1098R	DLEC1_ENST00000452631.2_Missense_Mutation_p.L1101R|DLEC1_ENST00000346219.3_Missense_Mutation_p.L1098R			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1098					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAAGGAGCTCCGCCTGGAC	0.597000													37	89					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90023568	90023568	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:90023568G>A	ENST00000268122.4	-	4	662	c.594C>T	c.(592-594)atC>atT	p.I198I	RHCG_ENST00000544600.1_Silent_p.I198I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	198					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTCGGTAGAGGATCCGGGTCA	0.557000													29	123					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17513423	17513423	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:17513423C>T	ENST00000381869.3	-	8	3368	c.2895G>A	c.(2893-2895)cgG>cgA	p.R965R	MTUS1_ENST00000400046.1_Silent_p.R91R|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Silent_p.R266R|MTUS1_ENST00000519263.1_Silent_p.R965R|MTUS1_ENST00000297488.6_Silent_p.R185R|MTUS1_ENST00000262102.6_Silent_p.R1019R|MTUS1_ENST00000544260.1_Silent_p.R164R	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1019						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTAAGTGTCCCGAAGCTTTT	0.453000													32	25					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384804	48384804	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:48384804C>T	ENST00000264313.6	+	5	1500	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S168L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	361						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCCAGAAATTCACCTCGTTCA	0.488000													41	28					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963426	57963426	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:57963426G>A	ENST00000455537.2	+	11	1351	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	KIF5A_ENST00000286452.5_Silent_p.T270T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	359					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						agaaggagaCGATTGCGAAGC	0.527000													46	3					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281310	25281310	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:25281310C>T	ENST00000218548.6	+	16	2670	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	ATP12A_ENST00000381946.3_Silent_p.I773I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	773					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCGCATCCATCGTCACAGGGG	0.537000													14	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057632	9057632	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9057632C>T	ENST00000397910.4	-	3	30017	c.29814G>A	c.(29812-29814)gtG>gtA	p.V9938V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9940	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GCCTGGTGATCACTTCAGTGA	0.448000													132	72					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71428082	71428082	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:71428082G>A	ENST00000373657.1	-	3	768	c.166C>T	c.(166-168)Cct>Tct	p.P56S	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P179S			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	179					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCCTTGCTAGGACCATGAAAG	0.403000													24	12					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842556	7842556	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:7842556G>A	ENST00000329913.3	-	2	1060	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	338					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTAGAGCATGGAAATGGGAGA	0.478000													36	3					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95847189	95847189	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:95847189G>A	ENST00000376887.4	-	9	1278	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	ABCC4_ENST00000431522.1_Silent_p.T388T|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.T388T|ABCC4_ENST00000536256.1_Silent_p.T313T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	388					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTAGCAAAAAGGTCTAAAGAA	0.368000													23	4					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:90162462A>G	ENST00000567960.1	+	0	1198				TUBB8P7_ENST00000564451.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													4	123					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37436376	37436376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:37436376G>T	ENST00000374660.1	+	9	1465	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.E456*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E456*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATAAATAGAGAAGTAGAAGG	0.289000													3	12					0.004672	0.004672	1	1	0
SPPL2B	56928	broad.mit.edu	37	19	2339852	2339852	+	RNA	SNP	G	G	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:2339852G>C	ENST00000452401.2	+	0	709				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGACGATGGGCCCGAGAAG	0.647000													7	6					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667118	157667118	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:157667118C>A	ENST00000368184.3	-	6	947	c.656G>T	c.(655-657)aGg>aTg	p.R219M	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R219M	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	219	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACATCTGGCCTCTGTGGAGA	0.577000													44	81					5.78141e-17	5.85149e-17	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71428081	71428081	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:71428081G>A	ENST00000373657.1	-	3	769	c.167C>T	c.(166-168)cCt>cTt	p.P56L	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P179L			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	179					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATCCTTGCTAGGACCATGAAA	0.398000													24	12					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91009295	91009295	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:91009295C>T	ENST00000268182.5	+	16	1963	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S	IQGAP1_ENST00000560738.1_Silent_p.S41S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	613					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TCTGGCAGTCCAACAAAGACA	0.413000													22	68					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199420	89199420	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:89199420C>T	ENST00000295908.6	-	2	705	c.316G>A	c.(316-318)Gag>Aag	p.E106K	PPM1K_ENST00000506423.1_Missense_Mutation_p.E106K|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000315194.4_Missense_Mutation_p.E106K	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	106	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTTCATTCTCTTTCCGTTTG	0.493000													9	13					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816886	82816886	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:82816886G>A	ENST00000265077.3	+	7	3326	c.2761G>A	c.(2761-2763)Gaa>Aaa	p.E921K	VCAN_ENST00000512590.2_Missense_Mutation_p.E873K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E921K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	921	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCAACCATGGAAGGAAGTGC	0.423000													49	15					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384540	12384540	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:12384540G>A	ENST00000356109.5	-	5	792	c.674C>T	c.(673-675)aCc>aTc	p.T225I	ZNF44_ENST00000355684.5_Missense_Mutation_p.T177I	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGAACTGAAGGTTTTTCCACA	0.423000													16	27					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66476448	66476448	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:66476448G>A	ENST00000533211.1	-	11	1447	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	SPTBN2_ENST00000529997.1_Silent_p.I372I|SPTBN2_ENST00000309996.2_Silent_p.I372I			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	372					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCTTGCTCTGGATGGTGAAGA	0.602000													23	40					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508025	37508025	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:37508025G>A	ENST00000374660.1	+	40	3673	c.3574G>A	c.(3574-3576)Gaa>Aaa	p.E1192K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1073K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1073K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAGGAAAAGGAAAATAAATA	0.318000													21	29					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019375	23019375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:23019375C>T	ENST00000327968.5	+	1	1289	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	401	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCGCCCAGACCGACAGACTGT	0.383000													5	98					0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65633313	65633313	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:65633313C>T	ENST00000308110.4	+	15	1886	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MUS81_ENST00000533035.1_Missense_Mutation_p.P438S	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	513					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CTGTGCCACCCCCAAGGAACA	0.627000								Homologous recombination					20	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	C	T	rs35647804		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:179465822C>T	ENST00000589042.1	-	288	56033	c.55809G>A	c.(55807-55809)ccG>ccA	p.P18603P	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P16962P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN_ENST00000342175.6_Silent_p.P9730P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTCTTCGGGGGTTTCC	0.458000													22	53					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738712	8738712	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:8738712C>T	ENST00000311434.9	-	8	762	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	175					platelet activation	cytosol											GCCTCGATCTCCAGTAGCAGA	0.637000													4	23					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864090	6864090	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:6864090C>T	ENST00000307659.5	+	7	2436	c.1981C>T	c.(1981-1983)Cca>Tca	p.P661S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P661S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	661							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTCTGTTTTACCATTTTCTTT	0.343000													13	16					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529495	97529495	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:97529495G>A	ENST00000305476.5	-	12	1499	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	456	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTGAACCCAGGGCCCCAGGCT	0.592000													20	20					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345582	38345582	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:38345582G>A	ENST00000436615.3	+	6	941	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.G206R|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.G200R|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.G151R	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	357					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGAGCCCGCGGGGCGTGAGGA	0.552000													53	122					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79610720	79610720	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:79610720C>T	ENST00000263849.4	+	7	778	c.676C>T	c.(676-678)Cat>Tat	p.H226Y		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	226																	ATCTCCCTCTCATAAAGGGAT	0.343000													29	25					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603588	95603588	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:95603588G>A	ENST00000343958.4	-	2	1695	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	FGD6_ENST00000549499.1_Missense_Mutation_p.S491F|FGD6_ENST00000546711.1_Missense_Mutation_p.S491F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	491					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.S491C(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTCGTAGAGAATTTTCCTC	0.408000													66	12					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152553840	152553840	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:152553840T>C	ENST00000305097.3	+	1	1105	c.269T>C	c.(268-270)aTg>aCg	p.M90T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	90					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCCGTGTACATGTTCAATTTG	0.512000													19	56					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39670314	39670314	+	Silent	SNP	C	C	T	rs150390543		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:39670314C>T	ENST00000254043.3	-	8	4917	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	KRT15_ENST00000393974.3_Silent_p.V279V|KRT15_ENST00000393981.3_3'UTR|KRT15_ENST00000393976.2_Silent_p.V444V	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	444	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCTGTCCATCCACTGACTCTT	0.512000													55	53					0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340208	38340208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:38340208G>A	ENST00000249079.2	-	7	884	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	C22orf23_ENST00000403026.1_Missense_Mutation_p.L210F|C22orf23_ENST00000403305.1_Missense_Mutation_p.L210F			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	210										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCCTTCCTAAGTTCCTCACTC	0.562000													18	37					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101847807	101847807	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:101847807T>C	ENST00000360264.3	+	19	3097	c.3077T>C	c.(3076-3078)cTa>cCa	p.L1026P	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.L1015P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.L857P|CUX1_ENST00000550008.2_Missense_Mutation_p.L959P|CUX1_ENST00000549414.2_Missense_Mutation_p.L993P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.L913P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1015					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGGTGTTCTACCCGTCCAG	0.647000													33	82					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918212	57918212	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:57918212G>A	ENST00000564448.1	-	33	3654	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S	CNGB1_ENST00000251102.8_Silent_p.S1204S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1204					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCCAAGGGAGGCAGGCG	0.746000													26	29					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432476	30432476	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:30432476G>A	ENST00000375978.3	-	1	944	c.870C>T	c.(868-870)ccC>ccT	p.P290P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	290					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGTTGGCAGGGGCAGTGGGG	0.677000													25	37					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509746	105509746	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:105509746G>A	ENST00000276654.5	-	5	1142	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	LRP12_ENST00000424843.2_Missense_Mutation_p.S326F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	345	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCAGAAGAAGAAACAACTGT	0.398000													19	20					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225175	49225175	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:49225175G>A	ENST00000327979.2	-	10	1184	c.773C>T	c.(772-774)aCg>aTg	p.T258M	FAM65C_ENST00000045083.2_Missense_Mutation_p.T258M|FAM65C_ENST00000535356.1_Missense_Mutation_p.T262M			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	258										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCATGCAGCGTGGGGATGAA	0.657000													38	163					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535178	71535178	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:71535178C>T	ENST00000355327.3	+	5	789	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	THSD4_ENST00000261862.6_Missense_Mutation_p.P219S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	219	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCACCAGGTCCCCCAACATGG	0.602000													16	60					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367371	107367371	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:107367371C>T	ENST00000542196.1	-	1	580	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAATTTCACAGGTGAAA	0.418000													45	50					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72294580	72294580	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:72294580G>A	ENST00000263563.6	+	10	1476	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GAAGGTATCCGACCGGAGAGC	0.542000													5	3					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108192078	108192078	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:108192078C>T	ENST00000278616.4	+	45	6888	c.6503C>T	c.(6502-6504)tCg>tTg	p.S2168L	ATM_ENST00000452508.2_Missense_Mutation_p.S2168L|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2168	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCTGTGTATTCGCTCTATCCC	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			29	37					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931615	184931615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:184931615C>T	ENST00000308497.4	+	3	3059	c.1624C>T	c.(1624-1626)Caa>Taa	p.Q542*	STOX2_ENST00000438269.1_Nonsense_Mutation_p.Q542*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	542					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CGTTAGTCTCCAAAGGGCTCA	0.537000													9	29					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119467364	119467364	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:119467364G>A	ENST00000369429.3	-	4	607	c.598C>T	c.(598-600)Cct>Tct	p.P200S	TBX15_ENST00000207157.3_Missense_Mutation_p.P94S			Q96SF7	TBX15_HUMAN	T-box 15	200						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H93>?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAGAATCAGGGTGTATATAA	0.458000													122	125					0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659527	63659527	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:63659527C>T	ENST00000523211.1	+	4	442	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.R104W	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	104						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTCTGTACATCGGTCATGGTG	0.473000													14	28					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734223	26734223	+	Missense_Mutation	SNP	G	G	A	rs145373937		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:26734223G>A	ENST00000396005.3	-	2	679	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124C	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R124C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCAGCATAGCGAACTGGTTTG	0.398000													50	107					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455278	84455278	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:84455278C>T	ENST00000377084.2	-	1	1250	c.365G>A	c.(364-366)cGa>cAa	p.R122Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	122						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCTGCTTTCGAAAAGACTT	0.468000													42	76					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845870	94845870	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:94845870G>A	ENST00000448921.1	-	6	1568	c.996C>T	c.(994-996)atC>atT	p.I332I	SERPINA1_ENST00000437397.1_Silent_p.I332I|SERPINA1_ENST00000449399.3_Silent_p.I332I|SERPINA1_ENST00000440909.1_Silent_p.I332I|SERPINA1_ENST00000393088.4_Silent_p.I332I|SERPINA1_ENST00000355814.4_Silent_p.I332I|SERPINA1_ENST00000393087.4_Silent_p.I332I|SERPINA1_ENST00000402629.1_Silent_p.I332I|SERPINA1_ENST00000404814.4_Silent_p.I332I	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	332					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AGACCTTAGTGATGCCCAGTT	0.532000													59	117					0	0	1	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883604	58883604	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:58883604C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						gcagctgcctctgaggcctca	0.582000													23	26					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517613	173517613	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:173517613G>T	ENST00000367714.3	-	12	1798	c.1376C>A	c.(1375-1377)aCa>aAa	p.T459K	SLC9C2_ENST00000536496.1_Missense_Mutation_p.T357K|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	459					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAAAGTTATTGTGTTCTGTAC	0.353000													22	23					5.26018e-13	5.30785e-13	1	1	0
ZMAT4	79698	broad.mit.edu	37	8	40625172	40625172	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:40625172G>A	ENST00000297737.6	-	3	326	c.180C>T	c.(178-180)ctC>ctT	p.L60L	ZMAT4_ENST00000315769.7_Silent_p.L60L	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	60						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTTCTGACCGGAGCCTCTTGG	0.473000													5	26					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512810	41512810	+	Splice_Site	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:41512810G>A	ENST00000324071.4	+	4	492	c.484_splice	c.e4-1	p.G162_splice	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	162					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTCTTCCTAGGGGCCCTCATG	0.512000													15	9					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582602	82582602	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82582602G>A	ENST00000423517.2	-	5	8004	c.7667C>T	c.(7666-7668)tCc>tTc	p.S2556F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2556F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2487					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S2556F(3)|p.S2487F(2)		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						GGAGGTAGGGGAAGGCAATTT	0.398000													57	38					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179257198	179257198	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:179257198A>G	ENST00000190611.4	+	23	2882	c.2506A>G	c.(2506-2508)Aat>Gat	p.N836D	OSBPL6_ENST00000409045.3_Missense_Mutation_p.N805D|OSBPL6_ENST00000392505.2_Missense_Mutation_p.N861D|OSBPL6_ENST00000409631.1_Missense_Mutation_p.N800D|OSBPL6_ENST00000315022.2_Missense_Mutation_p.N840D|OSBPL6_ENST00000359685.3_Missense_Mutation_p.N800D	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	836					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TATTGAGCTCAATGAGTTAGA	0.468000													27	24					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708742	203708742	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:203708742C>T	ENST00000357681.5	+	21	4501	c.3378C>T	c.(3376-3378)tcC>tcT	p.S1126S	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1162					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCAAAAGTCCATCCACAGCT	0.488000													62	47					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574496	22574496	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:22574496C>T	ENST00000357774.5	-	4	1662	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGGTTTCTCTCCAGTATGAAT	0.388000													7	16					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113014	145113014	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:145113014G>A	ENST00000426825.1	-	8	1068	c.987C>T	c.(985-987)ttC>ttT	p.F329F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	329							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGACGTGCTCGAATTCCCCAG	0.667000													28	77					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662768	138662768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:138662768C>T	ENST00000298480.5	+	18	1909	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	KCNT1_ENST00000490355.2_Missense_Mutation_p.P593L|KCNT1_ENST00000263604.3_Missense_Mutation_p.P593L|KCNT1_ENST00000371757.2_Missense_Mutation_p.P612L|KCNT1_ENST00000491806.2_Missense_Mutation_p.P579L|KCNT1_ENST00000487664.1_Missense_Mutation_p.P567L|KCNT1_ENST00000488444.2_Missense_Mutation_p.P593L|KCNT1_ENST00000486577.2_Missense_Mutation_p.P573L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	612						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCCGGGGCCCCGGCACATC	0.607000													6	0					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185705121	185705121	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:185705121C>T	ENST00000515030.1	-	4	660	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000504900.1_Missense_Mutation_p.R112Q|ACSL1_ENST00000507295.1_Missense_Mutation_p.R112Q|ACSL1_ENST00000513317.1_Missense_Mutation_p.R112Q|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Missense_Mutation_p.R112Q|ACSL1_ENST00000504342.1_Missense_Mutation_p.R112Q			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	112					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCTGGTTTCCGAGAGCCTAA	0.418000													54	48					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127472	152127472	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152127472C>T	ENST00000316073.3	-	3	2167	c.2103G>A	c.(2101-2103)ctG>ctA	p.L701L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	701	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCAGTGGCTCAGCCCCTCAC	0.557000													91	177					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42849681	42849681	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:42849681C>T	ENST00000200557.6	+	7	759	c.590C>T	c.(589-591)cCc>cTc	p.P197L	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	197					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTCCCAGATCCCCTCGGATGC	0.662000													5	4					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000													42	37					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													5	43					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281232	152281232	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:152281232C>T	ENST00000368799.1	-	3	6165	c.6130G>A	c.(6130-6132)Gcc>Acc	p.A2044T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2044	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCACTGGCCTGACTACCA	0.562000									Ichthyosis				379	356					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699120	49699120	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:49699120C>T	ENST00000296452.4	+	6	9956	c.9842C>T	c.(9841-9843)cCc>cTc	p.P3281L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3281					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCACACTGCCCTGCTGCTAT	0.642000													24	68					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15175054	15175054	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:15175054C>T	ENST00000355694.2	-	19	1957	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	TTC39B_ENST00000297615.5_Missense_Mutation_p.E572K|TTC39B_ENST00000507993.1_Missense_Mutation_p.E476K|TTC39B_ENST00000512701.1_Missense_Mutation_p.E641K|TTC39B_ENST00000380850.4_Missense_Mutation_p.E628K|TTC39B_ENST00000507285.1_Missense_Mutation_p.E476K	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	575							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTGTCAATTTCCCCCTGGCTT	0.408000													35	13					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867112	34867112	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:34867112G>A	ENST00000360581.1	+	5	706	c.578G>A	c.(577-579)gGt>gAt	p.G193D	NPSR1_ENST00000381539.3_Missense_Mutation_p.G193D|NPSR1_ENST00000531252.1_Missense_Mutation_p.G182D|NPSR1_ENST00000381542.1_Missense_Mutation_p.G127D|NPSR1_ENST00000359791.1_Missense_Mutation_p.G193D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	193						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGTCCAACGGTGAAGTGCAG	0.537000													59	31					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867292	7867292	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:7867292G>A	ENST00000264669.5	-	2	1041	c.905C>T	c.(904-906)gCc>gTc	p.A302V	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	302					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AACCACCAGGGCAGTGAGCAT	0.383000													52	12					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334253	77334253	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:77334253G>A	ENST00000282849.5	-	17	2999	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	861	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGACCTTGGGAAGTGCATAC	0.478000													26	21					0	0	1	0	0
ZNF575	284346	broad.mit.edu	37	19	44039589	44039589	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:44039589C>T	ENST00000458714.2	+	5	1592	c.785C>T	c.(784-786)gCg>gTg	p.A262V	ZNF575_ENST00000601282.1_Missense_Mutation_p.A163V|ZNF575_ENST00000314228.5_Missense_Mutation_p.A163V			Q86XF7	ZN575_HUMAN	zinc finger protein 575	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				TCCAAGCTGGCGGCCCACCGC	0.692000													3	36					0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903309	55903309	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:55903309G>A	ENST00000247219.5	-	2	648	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	193					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ACAACATTCTGAAATAGGGGT	0.418000													40	45					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763916	14763916	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:14763916C>T	ENST00000358984.4	+	7	1232	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.S351L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	351										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGAAATTTTCATGGCCAGCA	0.388000													3	9					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321881	55321881	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:55321881C>T	ENST00000314644.2	+	1	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		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			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						AGCAAATTTTCCTTTGTCCTA	0.368000										HNSCC(20;0.049)			13	53					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141904	54141904	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:54141904C>T	ENST00000265572.3	-	4	1393	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D277N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D366N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	366					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TAAGCAGGATCCTGAACTGTA	0.478000													16	41					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231248225	231248225	+	Splice_Site	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:231248225G>A	ENST00000243810.6	+	8	638	c.637_splice	c.e8-1	p.R213_splice	SP140L_ENST00000415673.2_Splice_Site_p.R213_splice|SP140L_ENST00000396563.4_Splice_Site_p.R213_splice|SP140L_ENST00000444636.1_Splice_Site_p.R213_splice			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	213						nucleus	DNA binding|metal ion binding	p.R213K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGTTTGAAGGAAAAAAGAAG	0.343000													3	5					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420502	37420502	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:37420502C>T	ENST00000397225.2	+	2	1161	c.246C>T	c.(244-246)ttC>ttT	p.F82F	MPST_ENST00000401419.3_Silent_p.F82F|MPST_ENST00000341116.3_Silent_p.F82F|MPST_ENST00000404802.3_Silent_p.F82F|MPST_ENST00000429360.2_Silent_p.F82F|MPST_ENST00000397129.1_Silent_p.F102F|MPST_ENST00000404393.1_Silent_p.F82F			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	82	Rhodanese 1.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCGAGCATTTCGCGGAGTACG	0.706000													3	4					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71603952	71603952	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:71603952G>A	ENST00000230053.6	-	2	1223	c.615C>T	c.(613-615)tcC>tcT	p.S205S		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	205					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAGGCCAGACGGAGACCTTGC	0.517000													35	7					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000													16	49					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614751	36614751	+	Missense_Mutation	SNP	C	C	T	rs139419162		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:36614751C>T	ENST00000311485.3	-	2	1129	c.968G>A	c.(967-969)gGa>gAa	p.G323E		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	323					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.G323E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGTTCCATTTCCCATGTTGCT	0.383000									Familial Hemophagocytic Lymphohistiocytosis				34	71					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641436	104641436	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:104641436C>T	ENST00000315264.7	+	11	2272	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S	KIF26A_ENST00000423312.2_Missense_Mutation_p.P771S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	771	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCGCACGCCTCCCTGCCTGCC	0.726000													9	13					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:138341226C>T	ENST00000419765.3	-	6	534	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_ENST00000288513.5_Silent_p.T15T|SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_Silent_p.T15T	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	167						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353000													20	85					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73222230	73222230	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:73222230C>T	ENST00000447371.2	+	10	992	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	NUP85_ENST00000245544.4_Missense_Mutation_p.H358Y|NUP85_ENST00000579324.1_Missense_Mutation_p.H246Y|NUP85_ENST00000579298.1_Missense_Mutation_p.H313Y|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.H312Y			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	358					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTTTGACATCCATCAAGTAAT	0.502000													16	47					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254931	51254931	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:51254931C>T	ENST00000404971.1	-	2	1820	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	NRXN1_ENST00000402717.3_Missense_Mutation_p.E161K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E161K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E161K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E161K|NRXN1_ENST00000405581.1_Missense_Mutation_p.E161K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E161K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	161	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGCGCAGTTCCGGGGGCAGC	0.662000													4	21					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840382	47840382	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:47840382G>A	ENST00000289672.2	-	54	8108	c.8058C>T	c.(8056-8058)ttC>ttT	p.F2686F	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2686					cell-cell adhesion	integral to membrane			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						GCAGCCCGGGGAAGGCGTCTG	0.577000													18	124					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193564	68193564	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:68193564G>A	ENST00000294304.7	+	16	3652	c.3546G>A	c.(3544-3546)aaG>aaA	p.K1182K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1182	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGTGGAGAAGACCACCGGGG	0.617000													29	54					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36033244	36033244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:36033244G>A	ENST00000222286.4	+	5	589	c.473G>A	c.(472-474)tGg>tAg	p.W158*	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	158					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CAGATCCCCTGGAGGGCTGTC	0.607000													4	24					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57149395	57149395	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:57149395C>T	ENST00000535318.2	+	5	729	c.368C>T	c.(367-369)tCc>tTc	p.S123F	CPNE2_ENST00000290776.8_Missense_Mutation_p.S123F|CPNE2_ENST00000565874.1_Missense_Mutation_p.S123F|CPNE2_ENST00000537605.1_Missense_Mutation_p.S21F			Q96FN4	CPNE2_HUMAN	copine II	123										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TAGATCGTCTCCAGCAAGAAG	0.602000													13	79					0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44967325	44967325	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:44967325C>T	ENST00000605505.1	+	0	316					NR_028409.1															lung(3)	3						TCTGGAACTTCCTCTGGACAT	0.572000													16	18					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45752145	45752145	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:45752145G>A	ENST00000290158.4	+	15	2316	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	KPNB1_ENST00000535458.2_Missense_Mutation_p.E492K|KPNB1_ENST00000537679.1_Missense_Mutation_p.E421K|KPNB1_ENST00000540627.1_Missense_Mutation_p.E492K	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	637					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CACACTGGTGGAAGGTCGGTG	0.512000													16	33					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757451	61757451	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:61757451C>T	ENST00000423902.2	+	22	5358	c.4879C>T	c.(4879-4881)Cac>Tac	p.H1627Y	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1627					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATTCTTTCCCACGGACGCTA	0.443000													16	44					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635152	33635152	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:33635152G>A	ENST00000380099.3	+	4	1944	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	646	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGAACCAAGGACTGCCGCG	0.637000													15	82					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33390918	33390918	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:33390918C>T	ENST00000242067.6	+	14	2041	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	BBS9_ENST00000354265.4_Intron|BBS9_ENST00000350941.3_Intron|BBS9_ENST00000396127.2_Intron|BBS9_ENST00000355070.2_Missense_Mutation_p.S507F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	507					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTGTTGTTTCTTATTCCAGA	0.328000									Bardet-Biedl syndrome				29	11					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626652	49626652	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:49626652G>A	ENST00000371571.4	-	2	509	c.224C>T	c.(223-225)tCg>tTg	p.S75L	KCNG1_ENST00000396017.3_Missense_Mutation_p.S75L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGGGCAGCGAGTACTTGAT	0.672000													27	63					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250671	43250671	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:43250671G>A	ENST00000259750.4	+	14	2276	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	731						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGCTAATGGGAaggaggaag	0.592000													15	5					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409535	47409535	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:47409535G>A	ENST00000378688.4	-	3	984	c.853C>T	c.(853-855)Cct>Tct	p.P285S	HTR2A_ENST00000542664.1_Missense_Mutation_p.P285S|HTR2A_ENST00000543956.1_Missense_Mutation_p.P201S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	285					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GAACTCTGAGGGAGGAAGCTG	0.478000													5	49					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:90162338T>C	ENST00000567960.1	+	0	1074				TUBB8P7_ENST00000564451.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													5	145					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565348	169565348	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:169565348C>T	ENST00000263686.6	-	12	1953	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	SELP_ENST00000367791.2_Missense_Mutation_p.G453E|SELP_ENST00000367786.2_Missense_Mutation_p.G577E|SELP_ENST00000367793.2_Missense_Mutation_p.G577E|SELP_ENST00000458599.2_Missense_Mutation_p.G455E|SELP_ENST00000367792.2_Missense_Mutation_p.G455E|SELP_ENST00000367794.2_Missense_Mutation_p.G577E|SELP_ENST00000367788.2_Missense_Mutation_p.G577E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	639					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.G639E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACATTGCACCCCTGGAGTAGG	0.468000													119	102					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17379639	17379639	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:17379639C>T	ENST00000242057.4	+	10	2833	c.2190C>T	c.(2188-2190)ccC>ccT	p.P730P		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	730					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCCCATACCCCACTACTTCTA	0.398000													55	23					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31392326	31392326	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:31392326A>G	ENST00000268296.4	+	29	3506	c.3385A>G	c.(3385-3387)Aaa>Gaa	p.K1129E	ITGAX_ENST00000562522.1_Missense_Mutation_p.K1129E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1129					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTACTGTACAAAGTGAGTGT	0.532000													16	27					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989579	2989579	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:2989579G>A	ENST00000246112.4	+	13	1241	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.R224K	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	224					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAACAGCAGGAGCCTGCTC	0.662000													6	22					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40629626	40629626	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:40629626C>T	ENST00000397536.2	-	3	242	c.207G>A	c.(205-207)ctG>ctA	p.L69L	C15orf52_ENST00000559313.1_Silent_p.L279L			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	279										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTCTCCCCTCAGCTGGCTGC	0.647000													12	67					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580064	82580064	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:82580064C>T	ENST00000423517.2	-	6	10177	c.9840G>A	c.(9838-9840)atG>atA	p.M3280I	PCLO_ENST00000333891.8_Missense_Mutation_p.M3280I|PCLO_ENST00000437081.1_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3211					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						CCTGCCTCATCATGAACTGGG	0.483000													98	48					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884892	39884892	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:39884892C>T	ENST00000341184.6	+	2	1755	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	514					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGCGGGTGGCGCCACAGGGG	0.657000													17	9					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116213214	116213214	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:116213214G>A	ENST00000369252.4	-	13	1591	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	ABLIM1_ENST00000277895.5_Silent_p.S490S|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000533213.2_Silent_p.S430S	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	490					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGGGAGAGGGGAGTTCCGGC	0.502000													8	24					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196529917	196529917	+	Silent	SNP	A	A	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:196529917A>G	ENST00000327134.3	+	4	640	c.318A>G	c.(316-318)ctA>ctG	p.L106L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	106	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTCGATTACTACAGACCTCCA	0.378000													5	30					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169684707	169684707	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:169684707G>A	ENST00000444448.2	+	6	713	c.237G>A	c.(235-237)atG>atA	p.M79I	NOSTRIN_ENST00000421711.2_Missense_Mutation_p.M51I|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.M51I|NOSTRIN_ENST00000397206.2_Start_Codon_SNP_p.M1I|NOSTRIN_ENST00000445023.2_Start_Codon_SNP_p.M1I|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.M79I|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.M79I			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	79					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGAGGGAATGAAATCCACAG	0.463000													12	15					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97846714	97846714	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:97846714G>A	ENST00000447648.2	-	26	3785	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P	TECPR1_ENST00000379795.3_Silent_p.P1164P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1162						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCAGCAGACGGGGCCATGGG	0.672000													14	21					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155025184	155025184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:155025184C>T	ENST00000447332.3	+	3	181	c.146C>T	c.(145-147)cCc>cTc	p.P49L	ADAM15_ENST00000531455.1_Silent_p.A49A|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Silent_p.A39A|ADAM15_ENST00000356955.2_Silent_p.A39A|ADAM15_ENST00000359280.4_Silent_p.A39A|ADAM15_ENST00000368412.3_Silent_p.A39A|ADAM15_ENST00000271836.6_Silent_p.A39A|ADAM15_ENST00000355956.2_Silent_p.A39A|ADAM15_ENST00000368413.1_Silent_p.A39A|ADAM15_ENST00000368410.2_Silent_p.A39A|ADAM15_ENST00000449910.2_Silent_p.A39A	NM_001261466.1	NP_001248395.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	40					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAGAGAAGGCCCCGAGGGAGC	0.577000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782395	209782395	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:209782395T>C	ENST00000009105.1	+	8	951	c.706T>C	c.(706-708)Tat>Cat	p.Y236H	CAMK1G_ENST00000361322.2_Missense_Mutation_p.Y236H|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	236	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGAGGGCTACTATGAGTTTGA	0.493000													76	114					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245374	84245374	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:84245374G>A	ENST00000324537.5	+	9	1021	c.529G>A	c.(529-531)Gat>Aat	p.D177N	SH3GL3_ENST00000535412.1_Missense_Mutation_p.D169N|SH3GL3_ENST00000427482.2_Missense_Mutation_p.D169N|SH3GL3_ENST00000434347.1_Missense_Mutation_p.D177N			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	169	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CCTGGATTACGATTATAAAAA	0.418000													19	32					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834808	24834808	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:24834808C>T	ENST00000376454.3	+	21	5417	c.5387C>T	c.(5386-5388)tCc>tTc	p.S1796F	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1117F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1227F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1202F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1796	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTTCCCCCTCCTTACCTGCT	0.493000													23	43					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306086	58306086	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:58306086G>A	ENST00000249750.4	-	3	1100	c.333C>T	c.(331-333)gaC>gaT	p.D111D	ALDH1A2_ENST00000537372.1_Silent_p.D90D|ALDH1A2_ENST00000559517.1_Silent_p.D15D|ALDH1A2_ENST00000558231.1_Silent_p.D82D|ALDH1A2_ENST00000347587.3_Silent_p.D111D	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	111					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GTTCCACCAAGTCTGCAAGCT	0.473000													60	238					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100729538	100729538	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:100729538G>A	ENST00000358544.2	+	37	6780	c.6669G>A	c.(6667-6669)ggG>ggA	p.G2223G	VPS13B_ENST00000357162.2_Silent_p.G2198G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2223					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACACAGCGGGAATCCAGGCC	0.413000													12	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529403	113529403	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:113529403C>T	ENST00000297405.5	-	28	4860	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R1499Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1435Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1539Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1539	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCCCATTTCGAGTCCCATT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	23					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749390	33749390	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:33749390C>T	ENST00000394562.1	-	4	1181	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SLFN12_ENST00000304905.5_Missense_Mutation_p.E220K|SLFN12_ENST00000452764.3_Missense_Mutation_p.E220K			Q8IYM2	SLN12_HUMAN	schlafen family member 12	220							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGAATCTCTTTAATTCGT	0.313000													18	56					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242713	158242713	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:158242713G>A	ENST00000296526.7	+	6	1169	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	GRIA2_ENST00000393815.2_Missense_Mutation_p.E235K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E235K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E282K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E235K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	282					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACACTGGAAGAAAAAGAATA	0.373000													17	28					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672618	62672618	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:62672618C>T	ENST00000498273.1	+	3	613	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	106										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agcaaataatcaatttagcat	0.318000													35	11					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34662998	34662998	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:34662998C>A	ENST00000488417.1	+	2	613	c.493C>A	c.(493-495)Cct>Act	p.P165T	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	104							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTTGCCCCTCCTCTAGTGGC	0.602000													17	5					1.99824e-07	2.00424e-07	1	1	0
SF3A2	8175	broad.mit.edu	37	19	2247808	2247808	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:2247808C>T	ENST00000221494.4	+	9	1076	c.658C>T	c.(658-660)Cca>Tca	p.P220S		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	220	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCGGCTCCACCCAGCCT	0.662000													51	30					0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29286936	29286936	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:29286936C>T	ENST00000266943.6	-	3	1310	c.941G>A	c.(940-942)gGa>gAa	p.G314E	SLC46A3_ENST00000380814.4_Missense_Mutation_p.G314E	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	314					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAGCCATATTCCTAGGAAACT	0.383000													62	29					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228783561	228783561	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:228783561G>A	ENST00000309931.2	+	11	1122	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.E332K	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		TCATGAAGGTGAAATTTCAAA	0.408000													15	38					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088789	35088789	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr6:35088789C>T	ENST00000311875.5	-	6	1068	c.651G>A	c.(649-651)atG>atA	p.M217I	TCP11_ENST00000412155.2_Missense_Mutation_p.M166I|TCP11_ENST00000244645.3_Missense_Mutation_p.M142I|TCP11_ENST00000418521.2_Missense_Mutation_p.M141I|TCP11_ENST00000512012.1_Missense_Mutation_p.M204I|TCP11_ENST00000373974.4_Missense_Mutation_p.M171I|TCP11_ENST00000373979.2_Missense_Mutation_p.M142I|TCP11_ENST00000444780.2_Missense_Mutation_p.M212I			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	204					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TCACCATGTCCATTTTCATCC	0.463000													68	23					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799920	159799920	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:159799920C>T	ENST00000289707.5	+	2	454	c.305C>T	c.(304-306)tCc>tTc	p.S102F	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	102						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCAACTTCTCCGTGTTGATG	0.632000													30	69					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151271270	151271270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:151271270C>T	ENST00000535741.1	-	48	7709	c.7236G>A	c.(7234-7236)tgG>tgA	p.W2412*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.W2412*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.W2423*|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonsense_Mutation_p.W2412*			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2423	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAGATCAATCCATTGGTGAA	0.388000													23	19					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255764	240255764	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:240255764C>T	ENST00000319653.9	+	1	585	c.355C>T	c.(355-357)Cca>Tca	p.P119S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	119					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACCAAGACTCCAGACCTCAG	0.682000													7	14					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321400	141321400	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr8:141321400G>A	ENST00000389328.4	-	10	1877	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	TRAPPC9_ENST00000389327.3_Silent_p.L514L|TRAPPC9_ENST00000438773.2_Silent_p.L523L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	523					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCCGCCAGGGAGGGCGATGG	0.557000													25	19					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405896	68405896	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:68405896G>A	ENST00000219334.5	-	3	792	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SMPD3_ENST00000568373.1_Silent_p.F63F|SMPD3_ENST00000563226.1_Silent_p.F63F	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	63					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGATGGGCGTGAAGAGGGCAG	0.657000													9	21					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102888084	102888084	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr5:102888084A>C	ENST00000230792.2	-	6	1208	c.1112T>G	c.(1111-1113)gTa>gGa	p.V371G	NUDT12_ENST00000507423.1_Missense_Mutation_p.V353G	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	371	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTCCTCTTCTACTTCTCTCCT	0.443000													26	7					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109746501	109746501	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:109746501C>T	ENST00000277225.5	+	10	7156	c.6867C>T	c.(6865-6867)tcC>tcT	p.S2289S	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Silent_p.S246S|ZNF462_ENST00000441147.2_Silent_p.S1195S|ZNF462_ENST00000457913.1_Silent_p.S2349S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2289					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTTGCCGGTCCAAACTGTCCA	0.428000													40	11					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909400	24909400	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:24909400C>T	ENST00000347898.3	+	10	1598	c.976C>T	c.(976-978)Cct>Tct	p.P326S	SLC5A11_ENST00000539472.1_Missense_Mutation_p.P262S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P291S|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P256S|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P291S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P262S|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P193L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P193L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P256S	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	326					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.P326T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AATGGTGTTCCCTGGGATGGT	0.527000													37	93					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019567	111019567	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:111019567C>T	ENST00000262839.2	-	11	3814	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	966					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTTGTTCTTCCTGTCCATCA	0.433000													16	10					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861013	147861013	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:147861013G>A	ENST00000513335.1	-	4	312	c.113C>T	c.(112-114)cCg>cTg	p.P38L	TTC29_ENST00000325106.4_Missense_Mutation_p.P12L|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000398886.4_Missense_Mutation_p.P38L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	12							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTAAGCTTCGGGCGTGTCAT	0.428000													6	14					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368848	86368848	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr13:86368848C>T	ENST00000400286.2	-	2	2394	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	599						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGTAAGAGATCGTAAAATAGT	0.418000													81	73					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117062911	117062911	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:117062911C>T	ENST00000356083.3	+	51	5036	c.4645C>T	c.(4645-4647)Cct>Tct	p.P1549S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1549	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGGGCCCGCCTGGAGACAT	0.622000													18	4					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:56321612G>A	ENST00000443188.1	-	5	1074	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_ENST00000592953.1_Missense_Mutation_p.R23C|NLRP11_ENST00000589824.2_Missense_Mutation_p.R122C|NLRP11_ENST00000589093.1_Missense_Mutation_p.R122C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R122C	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	122							ATP binding	p.R122C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383000													7	16					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179101	55179101	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:55179101G>A	ENST00000391736.1	+	13	1372	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LILRB4_ENST00000430952.2_Missense_Mutation_p.E352K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E354K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E353K|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	353						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACACGATGAAGACCCCCA	0.577000													7	30					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14564696	14564696	+	RNA	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:14564696C>T	ENST00000273083.3	-	0	556							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGACCTTGTCCTTGCTATCCA	0.512000													4	5					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739400	38739400	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:38739400G>A	ENST00000449082.2	-	27	5310	c.5311C>T	c.(5311-5313)Ctc>Ttc	p.L1771F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1771					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGACCAGAGAGAGTGTCTGCA	0.483000													28	40					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr4:187455191C>T	ENST00000307161.5	-	2	906	c.705G>A	c.(703-705)agG>agA	p.R235R	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	235					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000													58	60					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893282	23893282	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:23893282A>C	ENST00000355349.3	-	23	2918	c.2756T>G	c.(2755-2757)gTg>gGg	p.V919G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	919					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATCTCCTTCACCTTGGCCTC	0.527000													24	114					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446435	29446435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:29446435C>T	ENST00000544604.2	+	8	2441	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q656*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q656*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q656*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	756						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGGAAGCTCCCAGGGCTTGTA	0.657000													22	40					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182571103	182571103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:182571103C>A	ENST00000367558.5	-	4	533	c.385G>T	c.(385-387)Gag>Tag	p.E129*		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	129	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GCTCTAACCTCTTTAGGGGCC	0.567000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	99					9.10829e-22	9.24671e-22	1	1	0
AIPL1	23746	broad.mit.edu	37	17	6329137	6329137	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:6329137G>A	ENST00000381129.3	-	6	878	c.798C>T	c.(796-798)gcC>gcT	p.A266A	AIPL1_ENST00000570466.1_Silent_p.A244A|AIPL1_ENST00000250087.5_Silent_p.A203A|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Silent_p.A254A|AIPL1_ENST00000576776.1_Silent_p.A242A|AIPL1_ENST00000576307.1_Silent_p.A206A	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	266					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GCACGTAGTAGGCCTTCACGA	0.652000													9	21					0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71961519	71961519	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:71961519C>T	ENST00000378799.6	+	10	1260	c.904C>T	c.(904-906)Cct>Tct	p.P302S	IST1_ENST00000606369.1_Missense_Mutation_p.P154S|IST1_ENST00000378798.5_Missense_Mutation_p.P271S|IST1_ENST00000544564.1_Missense_Mutation_p.P302S|IST1_ENST00000541571.2_Missense_Mutation_p.P302S|IST1_ENST00000329908.8_Silent_p.V300V|IST1_ENST00000538850.1_Missense_Mutation_p.P154S|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.P315S	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	300	Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										CTAATTAGGTCCTGGACCCAA	0.453000													69	110					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466488	56466488	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:56466488C>T	ENST00000291971.3	+	3	1135	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	NLRP8_ENST00000590542.1_Missense_Mutation_p.P355L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	355	NACHT.					cytoplasm	ATP binding	p.P355L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTAACCCTTCCGGGGTTTAAT	0.448000													23	55					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394514	86394514	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:86394514G>A	ENST00000361669.2	+	2	1152	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G18E|GRM3_ENST00000394720.2_Missense_Mutation_p.G16E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	18					synaptic transmission	integral to plasma membrane		p.G18E(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTCAAAGGGATTTTTACTC	0.398000													18	93					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598108	93598108	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:93598108G>A	ENST00000394236.3	-	13	1859	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	PROS1_ENST00000407433.1_Missense_Mutation_p.R384C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	515	Laminin G-like 2.		R -> C (in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant).|R -> P (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTGGATGGACGAATATTCAAG	0.433000													25	53					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	49					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6387446	6387446	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:6387446G>A	ENST00000394456.5	-	5	915	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	151					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GTGCGATGCCGGGCCAGCGGT	0.627000													13	69					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10943698	10943698	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:10943698G>A	ENST00000591695.1	-	3	599	c.473C>T	c.(472-474)tCc>tTc	p.S158F	TMED1_ENST00000588289.1_Silent_p.F74F|TMED1_ENST00000214869.2_Silent_p.F219F			Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	0					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GCTTGTCCTGGAAGAAGCGCT	0.617000													14	43					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137798447	137798447	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:137798447T>G	ENST00000242375.3	+	8	909	c.867T>G	c.(865-867)ttT>ttG	p.F289L	AKR1D1_ENST00000432161.1_Intron|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.F248L	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	289					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTTTGACTTTTCTCTCACTG	0.398000													4	23					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:6007457G>A	ENST00000332249.4	-	1	758	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000													24	46					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567174	4567174	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:4567174C>T	ENST00000360213.1	+	1	754	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGCCATCCTGATCTTTTA	0.512000													22	36					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21478990	21478990	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:21478990C>T	ENST00000313654.9	+	46	6038	c.5797C>T	c.(5797-5799)Ctg>Ttg	p.L1933L	LAMA3_ENST00000399516.3_Silent_p.L1933L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L324L|LAMA3_ENST00000269217.6_Silent_p.L324L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1933	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAAAAGAACTGGATGTGAA	0.333000													14	14					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151739683	151739683	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:151739683C>T	ENST00000321531.5	+	2	244	c.77C>T	c.(76-78)tCc>tTc	p.S26F	OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000315067.8_Splice_Site_p.P26_splice|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_Missense_Mutation_p.S39F			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	23					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGCCCCGTTCCTGCCTCCAG	0.512000													99	77					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342507	36342507	+	Silent	SNP	C	C	T	rs145683325		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:36342507C>T	ENST00000378910.5	-	2	125	c.126G>A	c.(124-126)acG>acA	p.T42T	NPHS1_ENST00000353632.6_Silent_p.T42T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	42	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCCACCACCGTCAGGTTTT	0.677000													5	18					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813495	248813495	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:248813495C>T	ENST00000344889.3	-	1	690	c.691G>A	c.(691-693)Gca>Aca	p.A231T		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCCCTCTGCCTCGCTCATC	0.507000													9	0					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056805	9056805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr19:9056805C>T	ENST00000397910.4	-	3	30844	c.30641G>A	c.(30640-30642)tGg>tAg	p.W10214*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10216	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGCTGGAGGCCAGTCTGGGGA	0.468000													24	24					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121203199	121203199	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:121203199G>A	ENST00000392870.2	+	12	1530	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	GRK5_ENST00000369108.3_Missense_Mutation_p.V296I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	401	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGACCGCCGGGTCCTGGAGAC	0.627000													11	14					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	by1000genomes	TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:90162340C>T	ENST00000567960.1	+	0	1076				TUBB8P7_ENST00000564451.1_RNA														p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478000													4	143					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25280099	25280099	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr22:25280099C>T	ENST00000400358.4	+	15	1632	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	SGSM1_ENST00000400359.4_Silent_p.D580D	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	580						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGTCTCCAGACTTGCCCTGCG	0.577000													12	24					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48741114	48741114	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr12:48741114G>A	ENST00000544117.2	-	3	947	c.239C>T	c.(238-240)cCc>cTc	p.P80L	ZNF641_ENST00000448928.3_Missense_Mutation_p.P66L|ZNF641_ENST00000301042.3_Missense_Mutation_p.P80L|ZNF641_ENST00000547026.1_Missense_Mutation_p.P66L			Q96N77	ZN641_HUMAN	zinc finger protein 641	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						AGGAACCCAGGGAGCAGACTG	0.537000													23	5					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43655058	43655058	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:43655058C>T	ENST00000378069.4	-	7	843	c.696G>A	c.(694-696)gaG>gaA	p.E232E	MAOB_ENST00000538942.1_Silent_p.E216E|MAOB_ENST00000536181.1_Silent_p.E216E	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	232					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCACAGGCCTCTCCAGCTTCA	0.448000													28	23					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588324	247588324	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:247588324G>A	ENST00000366497.2	+	4	2359	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.E527K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E527K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E527K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E527K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E527K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	527	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACTTTCCAGGAGTTCTTTGC	0.512000													10	54					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239523	3239523	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chrX:3239523C>T	ENST00000217939.6	-	5	4357	c.4203G>A	c.(4201-4203)ggG>ggA	p.G1401G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1401						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAAGATTTTCCCCAGAAGTGG	0.507000													6	4					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451940	151451940	+	Silent	SNP	C	C	T	rs146278742		TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:151451940C>T	ENST00000356517.3	+	1	226	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	39						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGATGCCATCGCTAAAACTT	0.363000													7	8					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71415384	71415384	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:71415384T>C	ENST00000392650.3	-	16	2107	c.2107A>G	c.(2107-2109)Acc>Gcc	p.T703A	SDK2_ENST00000388726.3_Missense_Mutation_p.T703A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	703	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACTGGTTGGTTCGACCGCTG	0.592000													10	7					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848418	78848418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:78848418G>A	ENST00000545128.1	+	22	3310	c.2772G>A	c.(2770-2772)tgG>tgA	p.W924*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	625					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCCTCATGGAAATTTGAAT	0.502000													25	7					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:20683155C>T	ENST00000404938.2	+	7	1230	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000													50	34					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45633728	45633728	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr14:45633728G>A	ENST00000267430.5	+	10	1833	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	FANCM_ENST00000556036.1_Missense_Mutation_p.G583D|FANCM_ENST00000542564.2_Missense_Mutation_p.G557D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	583	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACGTCAAGGCAGGATAGTT	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	15					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120465350	120465350	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr1:120465350G>A	ENST00000256646.2	-	27	5130	c.4911C>T	c.(4909-4911)gaC>gaT	p.D1637D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1637	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGCAGTGGTCTGAGTCTT	0.542000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				145	110					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31335980	31335980	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr16:31335980C>T	ENST00000544665.3	+	18	2240	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	ITGAM_ENST00000287497.8_Silent_p.I722I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	722					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGAATTGCATCGAGGACCCAG	0.602000													6	16					0	0	1	0	0
KCMF1	56888	broad.mit.edu	37	2	85280376	85280376	+	Silent	SNP	T	T	G			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:85280376T>G	ENST00000409785.3	+	7	1349	c.990T>G	c.(988-990)cgT>cgG	p.R330R		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	330						intracellular	ligase activity|zinc ion binding			ovary(3)	3						CTTTAGTGCGTGAAGAGAGCT	0.488000													5	24					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54823787	54823787	+	Splice_Site	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr20:54823787G>A	ENST00000243911.2	+	1	0		c.e1-1			NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGGCCAGATTGAATGAGCATC	0.507000													110	91					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196620881	196620881	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:196620881G>A	ENST00000312428.6	-	62	11662	c.11562C>T	c.(11560-11562)ttC>ttT	p.F3854F	DNAH7_ENST00000409063.1_Silent_p.F337F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3854					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCTTGCAAGGAAGTCATTCA	0.368000													29	17					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107615834	107615834	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:107615834G>A	ENST00000393561.1	-	9	1470	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	LAMB1_ENST00000393560.1_Missense_Mutation_p.S405F|LAMB1_ENST00000222399.6_Missense_Mutation_p.S405F			P07942	LAMB1_HUMAN	laminin, beta 1	405	Laminin EGF-like 3.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATTTTGAGAGCCAGCTGG	0.398000													15	9					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr18:44559889C>T	ENST00000332567.4	-	1	2099	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	583	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCGTAATTCGTCTGTCTCT	0.517000													11	32					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067872	43067872	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:43067872G>A	ENST00000267890.6	-	13	1567	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	487					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGAGCAGGGAGAATAGAT	0.443000													14	77					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081458	53081458	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr15:53081458G>A	ENST00000305901.5	-	1	751	c.624C>T	c.(622-624)ccC>ccT	p.P208P	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	208					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCTTGTCGGTGGGCATGGCGG	0.711000													28	123					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520021	113520021	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:113520021G>A	ENST00000284601.3	-	4	1194	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	376					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATGAACTTGGAGACAGAGAC	0.398000													38	125					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100853624	100853624	+	Silent	SNP	G	G	A			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr7:100853624G>A	ENST00000223127.3	-	14	2000	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	534					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CGGGGTTGTCGAAGATCTGCC	0.607000													19	14					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71591282	71591282	+	Silent	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr2:71591282C>T	ENST00000409544.1	+	5	2247	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.S539S|ZNF638_ENST00000264447.4_Silent_p.S539S|ZNF638_ENST00000355812.3_Silent_p.S539S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	539	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.S539S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GATCCAGATCCCGTTCACCAT	0.438000													12	31					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517205	195517205	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr3:195517205C>T	ENST00000463781.3	-	2	1705	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G416R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	421					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAATGGTTCCACTTACAGAT	0.443000													27	74					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116263892	116263892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr9:116263892delG	ENST00000343817.5	+	1	186	c.36delG	c.(34-36)tcfs	p.S12fs	RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Frame_Shift_Del_p.S12fs|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000317613.6_Intron	NM_130795.2	NP_570613.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGTGTGCTCGGAGCGCCGCT	0.657													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89685271	89685271	+	Splice_Site	DEL	T	T	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr10:89685271delT	ENST00000371953.3	+	3	1523	c.164_splice	c.e3-1	p.F56_splice		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	56	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56V(2)|p.R55fs*2(1)|p.L57fs*6(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTTAAGGTTTTTGGATTC	0.254		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			2	4	---	---	---	---					
ARHGEF17	9828	broad.mit.edu	37	11	73019689	73019689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr11:73019689delG	ENST00000263674.3	+	1	356	c.6delG	c.(4-6)gcfs	p.A2fs	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACTATGGCGGACGGGGCAC	0.746													2	4	---	---	---	---					
ATP2A3	489	broad.mit.edu	37	17	3856998	3856998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A69P-06A-21D-A30X-08	TCGA-FR-A69P-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4373b4fd-bc97-4d8e-b4d5-7eaeb5d96110	2612b8c1-d115-4f19-a0de-1edb7bd64faa	g.chr17:3856998delG	ENST00000309890.7	-	2	275	c.125delC	c.(124-126)cgfs	p.P42fs	ATP2A3_ENST00000359983.3_Frame_Shift_Del_p.P42fs|ATP2A3_ENST00000397043.3_Frame_Shift_Del_p.P42fs|ATP2A3_ENST00000397041.3_Frame_Shift_Del_p.P42fs|ATP2A3_ENST00000352011.3_Frame_Shift_Del_p.P42fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Frame_Shift_Del_p.P42fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	42					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TTCCTCACTCGGGAGCTCTGC	0.657													2	4	---	---	---	---