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
CYHR1	50626	broad.mit.edu	37	8	145690204	145690204	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr8:145690204C>T	ENST00000438911.2	-	1	214	c.81G>A	c.(79-81)gtG>gtA	p.V27V	CYHR1_ENST00000306145.5_Silent_p.V27V|CYHR1_ENST00000403000.2_Silent_p.V27V|CYHR1_ENST00000424149.2_Silent_p.V27V|CTD-2517M22.16_ENST00000525461.1_RNA	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	27						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGGCTGTGCTCACGGCTGCGT	0.632000													17	33					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136071137	136071137	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:136071137C>T	ENST00000401392.1	-	8	1100	c.888G>A	c.(886-888)atG>atA	p.M296I	ZRANB3_ENST00000536680.1_Missense_Mutation_p.M296I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.M296I			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	296						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTGGAGTTCTCATTATTTTTT	0.378000													43	65					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64418350	64418350	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:64418350G>A	ENST00000353874.4	+	6	619	c.583G>A	c.(583-585)Gag>Aag	p.E195K	SNX1_ENST00000560829.1_Intron|SNX1_ENST00000261889.5_Missense_Mutation_p.E195K|SNX1_ENST00000561026.1_Missense_Mutation_p.E130K|SNX1_ENST00000559844.1_Missense_Mutation_p.E195K			Q13596	SNX1_HUMAN	sorting nexin 1	195	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGGTCTTTATGAGAAGCTTTC	0.453000													27	53					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93202150	93202150	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:93202150G>T	ENST00000370331.1	-	2	95	c.86C>A	c.(85-87)tCt>tAt	p.S29Y	EVI5_ENST00000540033.1_Missense_Mutation_p.S29Y|EVI5_ENST00000543509.1_Missense_Mutation_p.S29Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	29	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TGAGAGAGTAGAGCTCAGCTT	0.408000													46	92					4.10826e-27	4.57445e-27	1	1	0
RTN2	6253	broad.mit.edu	37	19	45997882	45997882	+	Translation_Start_Site	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:45997882G>A	ENST00000590526.1	-	0	765				RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.T154M|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.T154M			O75298	RTN2_HUMAN	reticulon 2							integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCGGATCCCGTTCCCCGGGC	0.642000													47	107					0	0	1	0	0
STH	246744	broad.mit.edu	37	17	44076766	44076766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:44076766C>T	ENST00000537309.1	+	1	151	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	41						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGGATGATTCAGGTTGCCAG	0.522000													35	45					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824761	8824761	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr18:8824761G>A	ENST00000359865.3	+	15	3395	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K	SOGA2_ENST00000518815.1_Missense_Mutation_p.E410K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E410K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1044K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1404K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1044K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1395																	CTTCCTGCCTGAGAAGGGCCT	0.577000													7	44					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332828	70332828	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:70332828C>G	ENST00000373644.4	+	2	942	c.733C>G	c.(733-735)Cag>Gag	p.Q245E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	245					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATGTTTGCTCAGGACACAGT	0.488000													12	33					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965835	49965835	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:49965835C>T	ENST00000293350.4	+	8	1084	c.921C>T	c.(919-921)ctC>ctT	p.L307L	ALDH16A1_ENST00000540132.1_Silent_p.L144L|ALDH16A1_ENST00000455361.2_Silent_p.L256L|ALDH16A1_ENST00000433981.2_Silent_p.L142L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	307							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AGGGTGGCCTCAGGCTCCTCA	0.592000													76	115					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822465	103822465	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:103822465C>T	ENST00000296422.7	-	12	1498	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	453						integral to membrane	solute:hydrogen antiporter activity										CTTGCTGTTTCTAGAGCCAGA	0.418000													28	125					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892651	11892651	+	Missense_Mutation	SNP	A	A	G	rs138221659		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:11892651A>G	ENST00000357901.4	+	4	2114	c.2012A>G	c.(2011-2013)tAt>tGt	p.Y671C	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAAACCCTATAAGTGTAAA	0.398000													20	35					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73505317	73505317	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr13:73505317G>C	ENST00000326291.6	+	14	2083	c.1745G>C	c.(1744-1746)aGa>aCa	p.R582T		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	582						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CACTTGGCAAGAAGAGTGCTT	0.318000													6	26					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600518	27600518	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:27600518G>T	ENST00000323703.6	-	4	1718	c.1520C>A	c.(1519-1521)tCt>tAt	p.S507Y	ZNF513_ENST00000407879.1_Missense_Mutation_p.S445Y	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	507					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCCTCAGAGGCAGAGAG	0.662000													50	103					1.23713e-20	1.36781e-20	1	1	0
CCL28	56477	broad.mit.edu	37	5	43412358	43412358	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:43412358C>T	ENST00000361115.4	-	1	135	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	CCL28_ENST00000537013.1_Missense_Mutation_p.E21K	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	21					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						CACTCACCTTCTGAGGCATGT	0.562000													6	11					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86122824	86122824	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:86122824G>C	ENST00000394518.2	+	7	1620	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.E509Q|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	509	RII-binding.				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAAAGATTTGAGAACTCTAA	0.498000													7	91					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54871248	54871248	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:54871248G>A	ENST00000474759.1	+	15	1509	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	CACNA2D3_ENST00000490478.1_Silent_p.Q393Q|CACNA2D3_ENST00000415676.2_Silent_p.Q487Q|CACNA2D3_ENST00000288197.5_Silent_p.Q487Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	487	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTAGTAAGCAGAACGAAACCG	0.522000													63	159					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138478044	138478044	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:138478044G>A	ENST00000477593.1	-	2	215	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	PIK3CB_ENST00000289153.2_Missense_Mutation_p.R48W			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	48	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTAGCTTCCCGAGGTACCTCC	0.408000													17	34					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48622718	48622718	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:48622718G>A	ENST00000358350.4	-	6	856	c.252C>T	c.(250-252)cgC>cgT	p.R84R	FRYL_ENST00000503238.1_Silent_p.R84R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.R84R|FRYL_ENST00000537810.1_Silent_p.R84R	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTCCATTTTGGCGTCTGTACC	0.418000													30	135					0	0	1	0	0
MVB12A	93343	broad.mit.edu	37	19	17534562	17534562	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17534562G>A	ENST00000528515.1	+	5	521	c.467G>A	c.(466-468)gGa>gAa	p.G156E	MVB12A_ENST00000317040.7_Silent_p.R198R|MVB12A_ENST00000392702.2_Silent_p.R158R|MVB12A_ENST00000543795.1_Silent_p.R198R|MVB12A_ENST00000529939.1_Silent_p.R198R					multivesicular body subunit 12A																		CCACTCTGCGGAGGAATGACT	0.602000													34	87					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092748	27092748	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:27092748G>A	ENST00000324856.7	+	9	3140	c.2769G>A	c.(2767-2769)atG>atA	p.M923I	ARID1A_ENST00000457599.2_Missense_Mutation_p.M923I|ARID1A_ENST00000374152.2_Missense_Mutation_p.M540I	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	923					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		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)		AAGGGGGCATGATGGGAACTG	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								26	36					0	0	1	0	0
APH1B	83464	broad.mit.edu	37	15	63594548	63594548	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:63594548C>T	ENST00000261879.5	+	5	553	c.483C>T	c.(481-483)ttC>ttT	p.F161F	APH1B_ENST00000560716.1_3'UTR|APH1B_ENST00000380343.4_Silent_p.F120F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	161					apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TTTCAGCTTTCATGACGCTGG	0.507000													93	190					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086749	92086749	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:92086749G>A	ENST00000298047.6	+	1	1488	c.1471G>A	c.(1471-1473)Gtt>Att	p.V491I	FAT3_ENST00000409404.2_Missense_Mutation_p.V491I|FAT3_ENST00000541502.1_Missense_Mutation_p.V491I|FAT3_ENST00000525166.1_Missense_Mutation_p.V341I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	491	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V491I(1)		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)				GGGAACCAGCGTTCTAACAGT	0.413000										TCGA Ovarian(4;0.039)			14	37					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178986032	178986032	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:178986032A>G	ENST00000286070.5	+	5	891	c.799A>G	c.(799-801)Ata>Gta	p.I267V		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	269					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CATTTTTGATATAGTACCAGG	0.328000													18	26					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154295554	154295554	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:154295554C>T	ENST00000484864.1	+	3	365	c.329C>T	c.(328-330)tCt>tTt	p.S110F	AQP10_ENST00000324978.3_Missense_Mutation_p.S110F|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	110					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTTGCTGTCTGCTTTCTGT	0.592000													41	140					0	0	1	0	0
CPLX1	10815	broad.mit.edu	37	4	780459	780459	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:780459C>T	ENST00000304062.6	-	4	466	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E58K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	79					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCCTCGGCCTCGCGCTCCTCC	0.756000													5	69					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921257	148921257	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:148921257G>T	ENST00000262085.3	+	8	1639	c.1534G>T	c.(1534-1536)Ggc>Tgc	p.G512C	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	512					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCTCCTGCACGGCGCCCGCAG	0.761000													7	18					0.00198382	0.00200942	1	1	0
C17orf47	284083	broad.mit.edu	37	17	56619989	56619989	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:56619989A>G	ENST00000321691.3	-	1	1740	c.1559T>C	c.(1558-1560)cTg>cCg	p.L520P	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	520										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACATACCCAGGAAGAAAGC	0.527000													52	215					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595173	55595173	+	Missense_Mutation	SNP	C	C	T	rs148523172		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55595173C>T	ENST00000378397.1	+	1	479	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGATTCACTCGTCCTTAGCT	0.483000										HNSCC(27;0.073)			31	160					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30948416	30948416	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr8:30948416C>G	ENST00000298139.5	+	15	2036	c.1787C>G	c.(1786-1788)tCt>tGt	p.S596C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	596	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTGTTATCTCTCCCCTTATT	0.358000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				9	77					0	0	1	0	0
MIF	4282	broad.mit.edu	37	22	24236670	24236670	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr22:24236670G>A	ENST00000215754.7	+	1	480	c.9G>A	c.(7-9)atG>atA	p.M3I	AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Intron	NM_002415.1	NP_002406.1	P14174	MIF_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	3					cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation	cell surface|cytoplasm|extracellular space	cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity			urinary_tract(1)	1						TCATGCCGATGTTCATCGTAA	0.687000													27	63					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559773	48559773	+	Missense_Mutation	SNP	G	G	A	rs142190158		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:48559773G>A	ENST00000258955.2	+	4	881	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	266					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGTCCTTCGGGAGGCTGGCTT	0.642000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	59					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144922570	144922570	+	Silent	SNP	T	T	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:144922570T>C	ENST00000529945.1	-	3	1765	c.1326A>G	c.(1324-1326)caA>caG	p.Q442Q	PDE4DIP_ENST00000479408.2_Silent_p.Q66Q|PDE4DIP_ENST00000530740.1_Silent_p.Q416Q|PDE4DIP_ENST00000313431.9_Silent_p.Q442Q|PDE4DIP_ENST00000369354.3_Silent_p.Q279Q|PDE4DIP_ENST00000369351.3_Silent_p.Q279Q|PDE4DIP_ENST00000369349.3_Silent_p.Q279Q|PDE4DIP_ENST00000369359.4_Silent_p.Q416Q|PDE4DIP_ENST00000369356.4_Silent_p.Q279Q|PDE4DIP_ENST00000313382.9_Silent_p.Q345Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	279					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGTACCATCTTGCTTTTGAG	0.388000			T	PDGFRB	MPD								19	343					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113142	65113142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:65113142G>T	ENST00000528416.1	+	7	776	c.643G>T	c.(643-645)Gga>Tga	p.G215*	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Nonsense_Mutation_p.G229*|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	215					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCAGTTTGTGGAAAACGTTA	0.552000													27	57					7.01153e-11	7.5918e-11	1	1	0
ADCY6	112	broad.mit.edu	37	12	49165644	49165644	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:49165644T>C	ENST00000307885.4	-	18	3594	c.2900A>G	c.(2899-2901)aAt>aGt	p.N967S	ADCY6_ENST00000357869.3_Missense_Mutation_p.N914S|ADCY6_ENST00000550422.1_Missense_Mutation_p.N914S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	967					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGTTCATCATTGCGGCGCTC	0.542000													50	81					0	0	1	0	0
PRAMEF14	729528	broad.mit.edu	37	1	13669152	13669152	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:13669152G>A	ENST00000344998.3	-	4	1216	c.1034C>T	c.(1033-1035)gCc>gTc	p.A345V	PRAMEF14_ENST00000334600.6_Missense_Mutation_p.A393V|PRAMEF14_ENST00000602491.1_5'UTR			Q5SWL7	PRA14_HUMAN	PRAME family member 14	345										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTTCAGGGCACCCATAGA	0.542000													24	98					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28259945	28259945	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:28259945C>T	ENST00000354638.3	-	9	1176	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	OCA2_ENST00000353809.5_Missense_Mutation_p.V341I|OCA2_ENST00000382996.2_Missense_Mutation_p.V341I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	341					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			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)		AGCGCGTAGACGCCCGCGAGG	0.582000									Oculocutaneous Albinism				7	37					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318000			Mis		myelodysplastic syndrome								20	38					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520471	179520471	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:179520471A>G	ENST00000367615.4	-	8	1057	c.989T>C	c.(988-990)cTg>cCg	p.L330P	NPHS2_ENST00000367616.4_Missense_Mutation_p.L262P|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	330					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCTGTGGACAGAGACTGAAG	0.542000													79	49					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15730085	15730085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:15730085G>A	ENST00000396368.3	-	3	465	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q87*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q87*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q87*|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q87*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	86						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTAGGCTGCTGAAGAGAACGA	0.478000													21	83					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17954210	17954210	+	Silent	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17954210G>C	ENST00000458235.1	-	4	498	c.399C>G	c.(397-399)gtC>gtG	p.V133V	JAK3_ENST00000534444.1_Silent_p.V133V|JAK3_ENST00000527670.1_Silent_p.V133V|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	133	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTGCTCCAGGACTGGCAGGT	0.592000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	8					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388875	89388875	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:89388875G>A	ENST00000439576.2	+	7	1565	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	ACAN_ENST00000558207.1_Silent_p.V397V|ACAN_ENST00000561243.1_Silent_p.V397V|ACAN_ENST00000559004.1_Silent_p.V397V|ACAN_ENST00000352105.7_Silent_p.V397V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	397					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCAGCGTGATCCTTACCG	0.612000													28	69					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29163002	29163002	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:29163002G>C	ENST00000321990.4	+	2	2281	c.1903G>C	c.(1903-1905)Gaa>Caa	p.E635Q	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	635					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAACTTATCGGAAAAGCACAG	0.373000													27	69					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11213450	11213450	+	Missense_Mutation	SNP	G	G	A	rs144172724		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:11213450G>A	ENST00000558518.1	+	3	488	c.301G>A	c.(301-303)Gag>Aag	p.E101K	LDLR_ENST00000558013.1_Missense_Mutation_p.E101K|LDLR_ENST00000545707.1_Missense_Mutation_p.E101K|LDLR_ENST00000455727.2_Missense_Mutation_p.E101K|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.E101K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	101	LDL-receptor class A 2.		E -> K (in FH; Lancashire; 6% of American English).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGGCTCAGACGAGCAAGGCTG	0.592000													34	102					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953940	17953940	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17953940G>A	ENST00000458235.1	-	5	561	c.462C>T	c.(460-462)ctC>ctT	p.L154L	JAK3_ENST00000534444.1_Silent_p.L154L|JAK3_ENST00000527670.1_Silent_p.L154L|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	154	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCTTGAGACTGAGGCCCACGG	0.672000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								9	35					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447539	38447539	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:38447539G>C	ENST00000209728.4	+	3	879	c.408G>C	c.(406-408)caG>caC	p.Q136H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	136					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ATTCTGAGCAGAGATGTCCAC	0.383000													22	82					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64119635	64119635	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:64119635G>C	ENST00000356786.5	+	19	3177	c.3133G>C	c.(3133-3135)Gag>Cag	p.E1045Q	CCDC88B_ENST00000359902.2_Missense_Mutation_p.E197Q|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1045					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGGGCCAGGAGCTGCACCG	0.677000													21	62					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31086619	31086619	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:31086619G>T	ENST00000597505.1	-	17	2379	c.2380C>A	c.(2380-2382)Cat>Aat	p.H794N	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGCACCATGGTGAATGTGA	0.448000													16	10					1.5739e-10	1.6867e-10	1	1	0
JAK3	3718	broad.mit.edu	37	19	17954684	17954684	+	Silent	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17954684G>C	ENST00000458235.1	-	3	309	c.210C>G	c.(208-210)ctC>ctG	p.L70L	JAK3_ENST00000534444.1_Silent_p.L70L|JAK3_ENST00000527670.1_Silent_p.L70L|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	70	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCAGAGCAAAGAGGGAGTGGT	0.607000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								20	32					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44756975	44756975	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr20:44756975T>G	ENST00000372285.3	+	8	725	c.653T>G	c.(652-654)gTg>gGg	p.V218G	CD40_ENST00000372276.3_Silent_p.G197G|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	218					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ttAGAAAAGGTGGCCAAGAAG	0.498000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38548350	38548350	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:38548350C>G	ENST00000423485.1	-	32	4260	c.4102G>C	c.(4102-4104)Gaa>Caa	p.E1368Q		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1368					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGTTTCAGTTCTTTGTTACTA	0.338000													10	31					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48673145	48673145	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chrX:48673145G>C	ENST00000334136.5	+	12	1175	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	HDAC6_ENST00000376619.2_Missense_Mutation_p.E333Q|HDAC6_ENST00000413163.2_Missense_Mutation_p.E278Q|HDAC6_ENST00000444343.2_Missense_Mutation_p.E347Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	333	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGTCGCCCTCGAGGTCCTGGG	0.592000													15	10					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86917259	86917259	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:86917259C>T	ENST00000376238.4	-	5	429	c.380G>A	c.(379-381)aGa>aAa	p.R127K	SLC28A3_ENST00000537648.1_Missense_Mutation_p.R58K	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	127					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGAAGGGCTCTGTGAAAGTT	0.478000													28	16					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101445571	101445571	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:101445571G>A	ENST00000370489.4	+	6	749	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	191						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TATCTTGGCTGACCTAGTGAA	0.438000													13	32					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27208921	27208921	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:27208921G>C	ENST00000394906.2	-	10	1067	c.990C>G	c.(988-990)atC>atG	p.I330M	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.I275M|FLOT2_ENST00000585169.1_Missense_Mutation_p.I275M			Q14254	FLOT2_HUMAN	flotillin 2	275					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCGTACGCAGGATCTCCTGTG	0.612000													31	110					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691728	30691728	+	Missense_Mutation	SNP	G	G	T	rs141103266		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr22:30691728G>T	ENST00000215790.7	-	4	686	c.522C>A	c.(520-522)caC>caA	p.H174Q	RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.H48Q|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H181Q|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H86Q	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	174	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGCTCACCCGTGGCCCCCCC	0.607000													18	43					9.7654e-05	0.000100207	1	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011633	46011633	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr21:46011633C>T	ENST00000400368.1	-	1	753	c.733G>A	c.(733-735)Gag>Aag	p.E245K	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	245	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.E245Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GAGGAATCCTCAGAGCAGGTG	0.662000													61	229					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151546838	151546838	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:151546838C>T	ENST00000368849.3	+	8	749	c.687C>T	c.(685-687)gtC>gtT	p.V229V	TUFT1_ENST00000353024.3_Silent_p.V170V|TUFT1_ENST00000538902.1_Silent_p.V248V|TUFT1_ENST00000392712.3_Silent_p.V174V|TUFT1_ENST00000368848.2_Silent_p.V204V	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	229					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCAGAAGTCGGAGAGCTGC	0.572000											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	55					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447572	38447572	+	Silent	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:38447572G>C	ENST00000209728.4	+	3	912	c.441G>C	c.(439-441)gtG>gtC	p.V147V		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	147					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTGCATGTGTGAGACTATTCA	0.398000													26	102					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717352	73717352	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:73717352G>C	ENST00000264448.6	+	10	8374	c.8263G>C	c.(8263-8265)Gaa>Caa	p.E2755Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E2713Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2755					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCATTTCACTGAAGAACAAAA	0.368000													18	93					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217295	98217295	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:98217295C>A	ENST00000427338.1	+	1	848	c.771C>A	c.(769-771)ttC>ttA	p.F257L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTATTTTTTTCCTATACATTA	0.333000													18	38					3.41278e-10	3.64494e-10	1	1	0
GALC	2581	broad.mit.edu	37	14	88459483	88459483	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr14:88459483G>T	ENST00000261304.2	-	1	132	c.26C>A	c.(25-27)tCc>tAc	p.S9Y	GALC_ENST00000393568.4_Missense_Mutation_p.S9Y|GALC_ENST00000393569.2_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	9					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGTTGCCAGGAAGCCGAGAG	0.721000													6	7					0.0293803	0.0295687	1	1	0
RGS1	5996	broad.mit.edu	37	1	192545939	192545939	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:192545939C>T	ENST00000367459.3	+	3	320	c.254C>T	c.(253-255)tCt>tTt	p.S85F	RGS1_ENST00000469578.2_Missense_Mutation_p.S85F	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	85	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TGGTCTCAATCTCTGGAAAAA	0.323000													9	61					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38449839	38449839	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:38449839G>A	ENST00000209728.4	+	5	1263	c.792G>A	c.(790-792)atG>atA	p.M264I		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	264					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AGGACATGATGAGGAAATTGG	0.473000													20	78					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123979266	123979266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:123979266C>A	ENST00000306315.5	-	6	4669	c.4234G>T	c.(4234-4236)Gaa>Taa	p.E1412*	ZNF608_ENST00000504926.1_Nonsense_Mutation_p.E985*|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1412						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCTTTAGATTCAGTGGTTGTT	0.438000													19	59					5.3912e-06	5.58692e-06	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52003566	52003566	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:52003566C>T	ENST00000598614.1	-	1	61	c.62G>A	c.(61-63)cGt>cAt	p.R21H	SIGLEC12_ENST00000291707.3_Intron	NM_033329.1	NP_201586.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	0	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGAGAAACGAGGGTCAGC	0.607000													28	64					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74271917	74271917	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:74271917G>A	ENST00000262765.5	-	18	5146	c.4967C>T	c.(4966-4968)tCg>tTg	p.S1656L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1656							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTTGCCAGCCGAAATCTGGGC	0.672000													14	59					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716000													48	77					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953365	17953365	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17953365G>T	ENST00000458235.1	-	6	720	c.621C>A	c.(619-621)ttC>ttA	p.F207L	JAK3_ENST00000534444.1_Missense_Mutation_p.F207L|JAK3_ENST00000527670.1_Missense_Mutation_p.F207L|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	207	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCCGCGTCACGAAGCTCAGGC	0.697000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								9	9					4.68919e-08	4.95759e-08	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347071	140347071	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:140347071G>A	ENST00000289269.5	+	1	1252	c.720G>A	c.(718-720)acG>acA	p.T240T	PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		240	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGGGTACGGCACAGATCT	0.622000													42	83					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88954989	88954989	+	Silent	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:88954989A>G	ENST00000375961.2	-	8	1384	c.1170T>C	c.(1168-1170)caT>caC	p.H390H	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Silent_p.H28H|ZCCHC6_ENST00000375963.3_Silent_p.H390H			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	390					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCACCCTAGCATGGAAGTCTG	0.353000													62	48					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987909	182987909	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:182987909G>C	ENST00000326505.3	+	2	853	c.323G>C	c.(322-324)aGa>aCa	p.R108T	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.R108T|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.R108T|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	108					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCGGAATTAGAAGGACGTGG	0.423000													29	51					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414797	43414797	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:43414797T>C	ENST00000187910.2	-	3	706	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	PSG6_ENST00000292125.2_Missense_Mutation_p.Y214C|PSG6_ENST00000402603.4_Missense_Mutation_p.Y214C	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTCACATTCATAGGGTCCTGC	0.507000													137	313					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923996	158923996	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:158923996G>C	ENST00000367097.3	+	13	4658	c.3301G>C	c.(3301-3303)Gag>Cag	p.E1101Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1101					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGTCAGCTTGAGAAGCCCTT	0.647000													35	53					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579375	55579375	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55579375G>A	ENST00000333973.2	+	1	522	c.433G>A	c.(433-435)Gct>Act	p.A145T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTGGAGCTGGCTTCTTGCTG	0.483000													5	131					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729912	15729912	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:15729912G>A	ENST00000396368.3	-	3	638	c.432C>T	c.(430-432)atC>atT	p.I144I	KIAA0430_ENST00000540441.2_Silent_p.I144I|KIAA0430_ENST00000548025.1_Silent_p.I144I|KIAA0430_ENST00000602337.1_Silent_p.I144I|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.I144I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	143						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCTGACACGTGATTGTCCTGG	0.537000													43	166					0	0	1	0	0
HMGN2	3151	broad.mit.edu	37	1	26800009	26800009	+	Silent	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:26800009G>T	ENST00000361427.5	+	2	145	c.51G>T	c.(49-51)gtG>gtT	p.V17V	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	17					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAGCAAAGGTGAAGGACGAAG	0.423000													11	39					4.36969e-10	4.63541e-10	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78213884	78213884	+	RNA	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:78213884C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTCCCACCTTCGAAGTGTCGG	0.488000													41	91					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29815962	29815962	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:29815962G>C	ENST00000375398.2	-	15	2719	c.2270C>G	c.(2269-2271)tCt>tGt	p.S757C	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.S757C			O95425	SVIL_HUMAN	supervillin	757					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTGCCCCCAGAACACGAAGC	0.498000													6	22					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895667	28895667	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr13:28895667A>G	ENST00000282397.4	-	23	3358	c.3107T>C	c.(3106-3108)gTg>gCg	p.V1036A	FLT1_ENST00000540678.1_Missense_Mutation_p.V254A|FLT1_ENST00000543394.1_Missense_Mutation_p.V59A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1036	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACAAATCTTCACCACGTTGTT	0.383000													35	42					0	0	1	0	0
PTPMT1	114971	broad.mit.edu	37	11	47593116	47593116	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:47593116G>C	ENST00000326656.8	+	3	373	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.E181Q|PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	181	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TGTTCTTAAAGAGTTCCACAA	0.478000													19	87					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178930	128178930	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:128178930G>C	ENST00000453608.2	+	3	213	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	PROC_ENST00000409048.1_Missense_Mutation_p.E48Q|PROC_ENST00000234071.3_Missense_Mutation_p.E48Q|PROC_ENST00000422777.3_Missense_Mutation_p.E48Q			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	48	Gla.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCCTTCCTGGAGGAGCTCCG	0.572000													6	100					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987589	182987589	+	Translation_Start_Site	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:182987589G>C	ENST00000326505.3	+	2	533	c.3G>C	c.(1-3)atG>atC	p.M1I	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Start_Codon_SNP_p.M1I|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Start_Codon_SNP_p.M1I|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	1					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAGTGGATATGAGAATGTTGG	0.388000													23	64					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48674019	48674019	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chrX:48674019G>C	ENST00000334136.5	+	16	1472	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	HDAC6_ENST00000376619.2_Missense_Mutation_p.E432Q|HDAC6_ENST00000444343.2_Missense_Mutation_p.E446Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	432					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAGCCCTTGAGCCCTTCTG	0.587000													31	23					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953149	17953149	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17953149G>A	ENST00000458235.1	-	6	936	c.837C>T	c.(835-837)atC>atT	p.I279I	JAK3_ENST00000534444.1_Silent_p.I279I|JAK3_ENST00000527670.1_Silent_p.I279I|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	279	FERM.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGGTCCAGGCGATGCCGCCGT	0.756000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								13	17					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211301003	211301003	+	Silent	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:211301003G>T	ENST00000443314.1	-	7	1329	c.987C>A	c.(985-987)gcC>gcA	p.A329A	LANCL1_ENST00000450366.2_Silent_p.A329A|LANCL1_ENST00000441020.3_Silent_p.A329A|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Silent_p.A329A|LANCL1_ENST00000431941.2_Silent_p.A329A			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	329						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGAAGGCATAGGCATTCCCTG	0.488000													8	86					1.06961e-07	1.11953e-07	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258311	56258311	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:56258311G>A	ENST00000327216.2	-	1	560	c.536C>T	c.(535-537)gCg>gTg	p.A179V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGGTGGGTCCGCACAGTAGAA	0.478000													32	88					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009298	9009298	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:9009298G>A	ENST00000397910.4	-	40	39378	c.39175C>T	c.(39175-39177)Ctg>Ttg	p.L13059L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13061	SEA 7.				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						CCAGAGTACAGAGGGCCGACA	0.512000													23	79					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3748006	3748006	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:3748006C>T	ENST00000541714.2	+	19	2999	c.2537C>T	c.(2536-2538)tCg>tTg	p.S846L	TJP3_ENST00000539908.2_Missense_Mutation_p.S810L|TJP3_ENST00000382008.3_Missense_Mutation_p.S860L|TJP3_ENST00000587686.1_Missense_Mutation_p.S865L|TJP3_ENST00000589378.1_Missense_Mutation_p.S855L|TJP3_ENST00000262968.9_Missense_Mutation_p.S879L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	860						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGGTCCTCGGAGCCCGTG	0.706000													7	24					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197987389	197987389	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:197987389C>T	ENST00000328737.2	-	7	679	c.603G>A	c.(601-603)ctG>ctA	p.L201L	ANKRD44_ENST00000450567.1_Silent_p.L201L|ANKRD44_ENST00000409153.1_Silent_p.L226L|ANKRD44_ENST00000282272.8_Silent_p.L218L|ANKRD44_ENST00000409919.1_Silent_p.L226L|ANKRD44_ENST00000337207.5_Silent_p.L201L|ANKRD44_ENST00000539527.1_Silent_p.L154L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	226							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCCCCAGGTTCAGGAGATGCT	0.433000													28	55					0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190026116	190026116	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:190026116G>A	ENST00000295522.3	-	4	854	c.586C>T	c.(586-588)Cca>Tca	p.P196S		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	196					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TAGGGCCTTGGTGTTGGGTAA	0.507000													63	107					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187086	152187086	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:152187086C>T	ENST00000368801.2	-	3	7094	c.7019G>A	c.(7018-7020)gGa>gAa	p.G2340E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2340					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCAAATCCAGAAGACTG	0.582000													44	1668					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482020	140482020	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:140482020C>T	ENST00000231130.2	+	1	1787	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		596	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGACTCGGGCCAGAAC	0.716000													69	85					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92985312	92985312	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:92985312G>C	ENST00000544910.1	+	28	2825	c.2605G>C	c.(2605-2607)Gat>Cat	p.D869H	CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.D899H|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.D619H	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	899										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCCATTCCTGATAAAGAATT	0.358000													13	22					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26029193	26029193	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:26029193G>A	ENST00000435504.4	-	4	450	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.L25F|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCATGCAAGAGGAGAAGTC	0.373000													7	19					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													4	26					0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64680517	64680517	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:64680517T>G	ENST00000371076.3	+	5	603	c.359T>G	c.(358-360)gTg>gGg	p.V120G		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	120							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						TCTAATCCAGTGCTAGAGAAT	0.333000													10	55					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379921	231379921	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:231379921G>C	ENST00000264052.5	+	25	2561	c.2206G>C	c.(2206-2208)Gat>Cat	p.D736H	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	736					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAATTTGAAGATATGGCAAA	0.398000													24	24					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695312	64695312	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:64695312G>A	ENST00000164133.2	+	4	1057	c.435G>A	c.(433-435)gaG>gaA	p.E145E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	145					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CGCCCAGTGAGAACCCTGAAT	0.522000													32	61					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157406139	157406139	+	Translation_Start_Site	SNP	G	G	A	rs114580509	by1000genomes	TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:157406139G>A	ENST00000409125.4	+	0	156				GPD2_ENST00000438166.2_Silent_p.R227R|GPD2_ENST00000540309.1_Silent_p.R227R|GPD2_ENST00000310454.6_Silent_p.R227R|GPD2_ENST00000409674.1_Silent_p.R227R			P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)						cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACGATGCACGGATGAACCTTG	0.547000													20	70					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56047643	56047643	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:56047643C>T	ENST00000413299.1	-	2	56	c.19G>A	c.(19-21)Gag>Aag	p.E7K	SBK2_ENST00000344158.3_Missense_Mutation_p.E7K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	7							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGCCCTTCCTCAGACTGTTTG	0.687000													17	44					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45399046	45399046	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:45399046G>A	ENST00000389039.6	-	15	2200	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	DUOX2_ENST00000603300.1_Silent_p.L605L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	605					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAAGGCAGCAGAGAGCAATGA	0.577000													5	13					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139918598	139918598	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:139918598A>G	ENST00000297183.6	+	33	7623	c.7499A>G	c.(7498-7500)aAt>aGt	p.N2500S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.N2500S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.N824S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.N2500S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTTCACAATCCAGATCCT	0.428000													11	33					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532129	84532129	+	RNA	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:84532129C>T	ENST00000527857.1	+	0	2151					NR_026851.1																						TGGGGCCTGCCCCGCAGAATC	0.473000													27	18					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747077	51747077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:51747077G>T	ENST00000395052.3	+	3	1273	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	GRM2_ENST00000442933.2_Nonsense_Mutation_p.E347*|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	347					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTGGTTCCGTGAATTCTGGGA	0.592000													11	73					0.000673444	0.000688799	1	1	0
FTSJ3	117246	broad.mit.edu	37	17	61902046	61902046	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:61902046T>A	ENST00000427159.2	-	10	1513	c.868A>T	c.(868-870)Ata>Tta	p.I290L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	290					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACACCCGTATGTCCTCAGTG	0.572000													105	184					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184688343	184688343	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:184688343G>C	ENST00000318130.8	-	11	1380	c.1114C>G	c.(1114-1116)Cat>Gat	p.H372D	EDEM3_ENST00000367512.3_Missense_Mutation_p.H329D	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	372					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACATTTCATGAGTTTCAATA	0.299000													19	104					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665213	138665213	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:138665213C>T	ENST00000330315.3	-	1	769	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	118					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CCGCCGCCCTCGCGCGGCACC	0.612000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						31	27					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2930073	2930073	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:2930073C>T	ENST00000264758.7	+	15	2318	c.2130C>T	c.(2128-2130)ccC>ccT	p.P710P	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P679P|ADD1_ENST00000446856.1_Silent_p.P679P|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000513328.2_3'UTR	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	679					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCCAGCCCCGAGCCAGCCC	0.667000													50	123					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11207490	11207490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:11207490C>G	ENST00000379261.4	+	2	187	c.95C>G	c.(94-96)tCa>tGa	p.S32*	CELF2_ENST00000416382.2_Nonsense_Mutation_p.S32*|CELF2_ENST00000450189.1_Nonsense_Mutation_p.S39*|CELF2_ENST00000417956.2_Nonsense_Mutation_p.S8*|CELF2_ENST00000354440.2_Nonsense_Mutation_p.S8*|CELF2_ENST00000354897.3_Nonsense_Mutation_p.S8*|CELF2_ENST00000427450.1_Nonsense_Mutation_p.S8*|CELF2_ENST00000399850.3_Nonsense_Mutation_p.S8*|CELF2_ENST00000608830.1_Nonsense_Mutation_p.S8*|CELF2_ENST00000542579.1_Nonsense_Mutation_p.S39*|CELF2_ENST00000315874.4_Nonsense_Mutation_p.S8*|CELF2_ENST00000537122.1_5'Flank|CELF2_ENST00000609692.1_Nonsense_Mutation_p.S8*	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	32	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTGGATCACTCAGACCAACCA	0.522000													48	165					0	0	1	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015515	53015515	+	RNA	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:53015515A>G	ENST00000599143.1	-	0	80																											GAGAAACCTTACAAGTGTAAT	0.403000													17	34					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376491	200376491	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:200376491G>C	ENST00000294740.3	-	2	2467	c.2343C>G	c.(2341-2343)ttC>ttG	p.F781L	ZNF281_ENST00000367353.1_Missense_Mutation_p.F781L|ZNF281_ENST00000367352.3_Missense_Mutation_p.F745L	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATGAGGACTGGAAGGCTGATG	0.438000													9	73					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150512664	150512664	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:150512664G>C	ENST00000354546.5	-	9	858	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	ANXA6_ENST00000523714.1_Missense_Mutation_p.L179V|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.L211V|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	211						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAACCGAAGATGCTGCTTG	0.468000													6	8					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39450193	39450193	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:39450193T>C	ENST00000301821.6	+	3	339	c.230T>C	c.(229-231)aTa>aCa	p.I77T	RPSA_ENST00000443003.1_Missense_Mutation_p.I77T|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	77	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GTCAGTGTTATATCCTCCAGG	0.398000													28	43					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9976246	9976246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:9976246C>T	ENST00000383811.3	+	1	723	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	CRELD1_ENST00000452070.1_Nonsense_Mutation_p.Q42*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.Q42*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.Q42*	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	42	Pro-rich.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TCCCCCGCCTCAGCCCCATCC	0.612000													23	42					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733475	152733475	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:152733475G>A	ENST00000368773.1	+	2	1469	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	KPRP_ENST00000606109.1_Missense_Mutation_p.E471K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	471	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCACCCAGAGCCTTGTCC	0.682000													75	175					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43498484	43498484	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:43498484G>A	ENST00000265351.7	-	23	2829	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	873					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGGCTGAGCTGAGAAGCTGGG	0.448000													35	37					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060234	74060234	+	Silent	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:74060234C>G	ENST00000307877.2	-	4	545	c.384G>C	c.(382-384)ctG>ctC	p.L128L	SRP68_ENST00000355113.5_Silent_p.L27L|SRP68_ENST00000539137.1_Silent_p.L90L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	128					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CAGCATCCATCAGAACCAGAA	0.488000													49	137					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978640	40978640	+	Missense_Mutation	SNP	G	G	A	rs73931308	byFrequency	TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:40978640G>A	ENST00000352632.3	+	2	198	c.112G>A	c.(112-114)Gct>Act	p.A38T	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A38T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A38T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A38T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A38T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	38	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A38T(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCAGCCGGCTGCGTCCAC	0.672000													9	9					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179296	74179296	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr14:74179296C>T	ENST00000316836.3	-	1	1832	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	349					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		AGTGCCCTTCCAGGCCTAACT	0.557000													11	35					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16255786	16255786	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:16255786G>C	ENST00000407010.2	-	9	1155	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	ISPD_ENST00000399310.3_Missense_Mutation_p.Q336E|ISPD-AS1_ENST00000457112.1_RNA|ISPD-AS1_ENST00000579293.1_RNA|ISPD-AS1_ENST00000438573.1_RNA|ISPD-AS1_ENST00000582683.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	386					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCCATTTTCTGACTGGGAGGT	0.323000										Multiple Myeloma(15;0.18)			3	20					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46728987	46728987	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr13:46728987C>T	ENST00000398576.2	-	9	914	c.526G>A	c.(526-528)Gat>Aat	p.D176N	LCP1_ENST00000323076.2_Missense_Mutation_p.D176N			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	176	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GTTCTTTCATCAATTGTGTCT	0.373000			T	BCL6	NHL								23	25					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516525	140516525	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:140516525C>T	ENST00000231134.5	+	1	1726	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCTGGTCTCCATCAACG	0.667000													92	250					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68612528	68612528	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:68612528G>C	ENST00000423218.2	-	20	2706	c.2611C>G	c.(2611-2613)Cag>Gag	p.Q871E	ITGA11_ENST00000315757.7_Missense_Mutation_p.Q871E			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	871					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTTACCTTCTGGATCAAGCTG	0.567000													19	39					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52657481	52657481	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr13:52657481G>C	ENST00000355568.4	-	17	1626	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	496							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACTTATTTTTGAGTTCTCCTT	0.428000													21	34					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88052191	88052191	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:88052191G>A	ENST00000393207.1	+	7	1010	c.789G>A	c.(787-789)gaG>gaA	p.E263E	BANP_ENST00000479780.2_Silent_p.E232E|BANP_ENST00000355022.4_Silent_p.E232E|BANP_ENST00000538234.1_Silent_p.E271E|BANP_ENST00000393208.2_Silent_p.E232E|BANP_ENST00000355163.5_Silent_p.E238E|BANP_ENST00000286122.7_Silent_p.E263E	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	263	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TCCACCGCGAGGTGCAGGCTG	0.652000													3	17					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50335588	50335588	+	Silent	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:50335588G>C	ENST00000312865.6	+	13	1451	c.1398G>C	c.(1396-1398)cgG>cgC	p.R466R	MED25_ENST00000538643.1_Silent_p.R253R	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	466	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CTTTGTTCCGGAACTCAAGGA	0.602000													10	20					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14517366	14517366	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:14517366G>C	ENST00000242786.5	+	15	2125	c.2045G>C	c.(2044-2046)aGa>aCa	p.R682T	CD97_ENST00000358600.3_Missense_Mutation_p.R589T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.R633T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	682					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCCGCCCCAGATAGTGAGTG	0.677000											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519521	28519521	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:28519521G>A	ENST00000261609.7	-	7	824	c.716C>T	c.(715-717)tCg>tTg	p.S239L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	239					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCAAAGAGCGAGGCCTCGGG	0.637000													22	28					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409905	140409905	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:140409905C>T	ENST00000286349.3	+	4	2147	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	652	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATGGAGCTCTGTGGACAAA	0.428000													35	76					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009269	9009269	+	Silent	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:9009269G>C	ENST00000397910.4	-	40	39407	c.39204C>G	c.(39202-39204)ctC>ctG	p.L13068L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13070	SEA 7.				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						AGCCTCACCTGAGAGAGATCA	0.512000													20	74					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994141	53994141	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:53994141G>A	ENST00000396403.4	+	4	783	c.655G>A	c.(655-657)Gag>Aag	p.E219K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CCAATGTAATGAGAGTGGCAA	0.343000													38	75					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953978	17953978	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:17953978G>A	ENST00000458235.1	-	5	523	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	JAK3_ENST00000534444.1_Missense_Mutation_p.R142C|JAK3_ENST00000527670.1_Missense_Mutation_p.R142C|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	142	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGTCACTGCGGTGCTGGGGG	0.677000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	23					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144892714	144892714	+	Missense_Mutation	SNP	C	C	T	rs137872634		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr8:144892714C>T	ENST00000356994.2	-	13	1471	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	SCRIB_ENST00000320476.3_Missense_Mutation_p.E489K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E408K	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	489	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCCGCCCCTCGATGCTCCTC	0.682000													63	155					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139943359	139943359	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:139943359C>G	ENST00000357560.4	-	2	634	c.191G>C	c.(190-192)gGa>gCa	p.G64A	APBB3_ENST00000356738.2_Missense_Mutation_p.G64A|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.G64A|APBB3_ENST00000354402.5_Missense_Mutation_p.G64A|APBB3_ENST00000412920.3_Missense_Mutation_p.G64A|APBB3_ENST00000358580.5_Missense_Mutation_p.G64A|APBB3_ENST00000507279.1_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	64						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGCATCTCCTAGTTCCCA	0.572000													16	45					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263356	39263356	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr13:39263356C>T	ENST00000280481.7	+	1	2091	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	625					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTTCTCAGAGGCCTTT	0.522000													18	29					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976461	14976461	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:14976461G>A	ENST00000330828.2	+	2	796	c.592G>A	c.(592-594)Gag>Aag	p.E198K	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	198										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACTAAAAACTGAGGATTCCAA	0.413000													26	25					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522320	124522320	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:124522320G>A	ENST00000408936.3	+	6	954	c.772G>A	c.(772-774)Gag>Aag	p.E258K	DAB2IP_ENST00000309989.1_Missense_Mutation_p.E134K|DAB2IP_ENST00000259371.2_Missense_Mutation_p.E230K			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	258	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TTTCTGGGGCGAGCACTTCGA	0.577000													43	33					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4796971	4796971	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:4796971G>C	ENST00000299320.5	+	8	1703	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	C16orf71_ENST00000590191.1_Missense_Mutation_p.E426Q|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGAGGAGGAAGAGATGGCAGC	0.612000													4	4					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87133567	87133567	+	Missense_Mutation	SNP	G	G	A	rs137996914		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:87133567G>A	ENST00000265724.3	-	29	4252	c.3835C>T	c.(3835-3837)Cgc>Tgc	p.R1279C	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1215C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1279					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTCACTGGCGCTTTGTTCCA	0.388000													8	71					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170108171	170108171	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:170108171C>T	ENST00000458537.3	+	4	2299	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SKIL_ENST00000413427.2_Silent_p.I484I|SKIL_ENST00000259119.4_Silent_p.I530I|SKIL_ENST00000426052.2_Silent_p.I510I	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	530					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGGAAAAATCATGGAAGAAG	0.348000													13	46					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15984008	15984008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:15984008G>A	ENST00000268712.3	-	24	3468	c.3211C>T	c.(3211-3213)Cag>Tag	p.Q1071*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1087*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1071	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAGGAAGCCTGATTATGAGAA	0.388000													19	22					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36636770	36636770	+	Missense_Mutation	SNP	C	C	T	rs138447994		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:36636770C>T	ENST00000316156.4	+	2	698	c.245C>T	c.(244-246)cCg>cTg	p.P82L	MAP7D1_ENST00000373151.2_Missense_Mutation_p.P82L|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P82L			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	82	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCAGCCCCCCCGCAGGAAGAG	0.652000													43	59					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1453084	1453084	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:1453084G>A	ENST00000535453.1	+	1	1797	c.84G>A	c.(82-84)gaG>gaA	p.E28E	APC2_ENST00000238483.4_Silent_p.E28E|APC2_ENST00000233607.2_Silent_p.E28E			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	28					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TGAGGCAGGAGCTAAGGGACA	0.647000													12	21					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	212959	212959	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:212959G>A	ENST00000526104.1	+	8	2677	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	RIC8A_ENST00000527696.1_Missense_Mutation_p.E439K|RIC8A_ENST00000325207.5_Missense_Mutation_p.E451K			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	445						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGACACAGATGAGTACAAGGA	0.612000													20	14					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46774567	46774567	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr22:46774567G>C	ENST00000262738.3	-	23	7303	c.7304C>G	c.(7303-7305)tCc>tGc	p.S2435C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2435	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGTTCCTGGACAGGAGCTC	0.652000													7	17					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1094084	1094084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:1094084G>T	ENST00000308624.5	+	4	442	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	105	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAAATATTCGAAGACCAAGC	0.388000													22	39					9.57634e-11	1.03332e-10	1	1	0
AP1S2	8905	broad.mit.edu	37	X	15864095	15864095	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chrX:15864095C>T	ENST00000380291.1	-	3	335	c.219G>A	c.(217-219)caG>caA	p.Q73Q	AP1S2_ENST00000421527.2_Silent_p.Q115Q|AP1S2_ENST00000545766.1_Silent_p.Q115Q|AP1S2_ENST00000329235.2_Silent_p.Q73Q			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	73				DQD -> ESRN (in Ref. 5; AAC72946).	endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					GTTCATTGTCCTGATCCTCAA	0.299000													19	42					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100853905	100853905	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:100853905C>T	ENST00000223127.3	-	13	1806	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	470					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)	CGCAGGGTATCACCCCGGATC	0.602000													22	51					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824763	8824763	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr18:8824763G>A	ENST00000359865.3	+	15	3397	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000517570.1_Silent_p.E1044E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1395																	TCCTGCCTGAGAAGGGCCTGC	0.572000													7	44					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	23					0.00074312	0.000757597	1	1	0
DPF2	5977	broad.mit.edu	37	11	65113143	65113143	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:65113143G>T	ENST00000528416.1	+	7	777	c.644G>T	c.(643-645)gGa>gTa	p.G215V	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.G229V|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	215					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TCAGTTTGTGGAAAACGTTAC	0.547000													26	57					4.22769e-11	4.59341e-11	1	1	0
PCDHA12	56137	broad.mit.edu	37	5	140257163	140257163	+	Silent	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:140257163C>A	ENST00000398631.2	+	1	2106	c.2106C>A	c.(2104-2106)atC>atA	p.I702I	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCATCATCGCCATCTGTG	0.662000													21	67					8.04996e-18	8.86908e-18	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28113000	28113000	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:28113000C>G	ENST00000263181.6	-	4	834	c.544G>C	c.(544-546)Gat>Cat	p.D182H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	182	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTTGGGTATCTTCCCGGACA	0.353000													28	34					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159517867	159517867	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:159517867G>A	ENST00000389757.3	+	13	2241	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.E706K	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	706					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CGCGGGGGAAGAAGCTCGGAA	0.542000										HNSCC(62;0.18)			20	37					0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11805396	11805396	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:11805396C>G	ENST00000379215.4	+	5	976	c.765C>G	c.(763-765)ttC>ttG	p.F255L	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	255						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						AAGCCACCTTCTACAAGCAGC	0.657000													4	61					0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47445700	47445700	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:47445700G>A	ENST00000298852.3	-	6	645	c.488C>T	c.(487-489)aCg>aTg	p.T163M	PSMC3_ENST00000602866.1_Missense_Mutation_p.T147M|PSMC3_ENST00000530912.1_Missense_Mutation_p.T121M	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGTGGGCAGCGTCTCCAGGAT	0.562000													72	78					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45574867	45574867	+	Missense_Mutation	SNP	C	C	T	rs139536353		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:45574867C>T	ENST00000303809.2	-	3	1634	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	474					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GCTCAGGCCTCGCCGGCCGCC	0.642000													45	88					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46945130	46945130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:46945130G>A	ENST00000449590.1	+	16	1969	c.1766G>A	c.(1765-1767)tGg>tAg	p.W589*	PTH1R_ENST00000418619.1_Nonsense_Mutation_p.W589*|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.W589*|PTH1R_ENST00000430002.2_Nonsense_Mutation_p.W589*	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	589						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CAGGAAGAGTGGGAGACAGTC	0.607000													73	173					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183388884	183388884	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:183388884C>T	ENST00000454652.2	+	7	1673	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	KLHL24_ENST00000242810.6_Silent_p.S429S|KLHL24_ENST00000476808.1_Silent_p.S429S	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTTATGATTCCTTTTCAAATC	0.408000													35	98					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71232231	71232231	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:71232231G>A	ENST00000418814.2	+	13	1659	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	FAM135A_ENST00000370479.3_Missense_Mutation_p.E332K|FAM135A_ENST00000505769.1_Missense_Mutation_p.E349K|FAM135A_ENST00000457062.2_Missense_Mutation_p.E332K|FAM135A_ENST00000505868.1_Missense_Mutation_p.E349K|FAM135A_ENST00000361499.3_Missense_Mutation_p.E349K	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	349										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CAGATTTTCTGAGGCATTCTT	0.348000													33	63					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681265	55681265	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55681265G>A	ENST00000344514.1	-	1	793	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGAGAATAGGAAGAACTTGG	0.438000													21	54					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80256563	80256563	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:80256563G>C	ENST00000265080.4	+	1	73	c.6G>C	c.(4-6)caG>caC	p.Q2H	CTC-459I6.1_ENST00000505694.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	2					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCACCATGCAGAAGAGCGTGC	0.706000													4	21					0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57507884	57507884	+	Missense_Mutation	SNP	C	C	T	rs146675149		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:57507884C>T	ENST00000566936.1	-	6	964	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	DOK4_ENST00000340099.4_Missense_Mutation_p.V223I|DOK4_ENST00000569548.1_Missense_Mutation_p.V223I			Q8TEW6	DOK4_HUMAN	docking protein 4	223	IRS-type PTB.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GCACTGTGGACGCGCTGGTAA	0.597000													28	80					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285053	223285053	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:223285053G>C	ENST00000540964.1	-	4	1782	c.1321C>G	c.(1321-1323)Ctc>Gtc	p.L441V	TLR5_ENST00000342210.6_Missense_Mutation_p.L441V			O60602	TLR5_HUMAN	toll-like receptor 5	441			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		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)		AGAAAGTAGAGAATATCTAGA	0.408000													32	82					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779144	156779144	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:156779144C>T	ENST00000392306.2	-	7	1022	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SH2D2A_ENST00000368198.3_Missense_Mutation_p.E267K|SH2D2A_ENST00000368199.3_Missense_Mutation_p.E285K	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	285	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTATGGGTTCATCAGGCTCA	0.602000													26	279					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91261808	91261808	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:91261808G>A	ENST00000369329.3	-	8	988	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MAP3K7_ENST00000369327.3_Missense_Mutation_p.S276L|MAP3K7_ENST00000369332.3_Missense_Mutation_p.S276L|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.S276L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	276	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCCTCCATTGAAGGGCGCTG	0.408000													13	53					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595171	55595171	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55595171C>T	ENST00000378397.1	+	1	477	c.477C>T	c.(475-477)caC>caT	p.H159H		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCTGATTCACTCGTCCTTAG	0.483000										HNSCC(27;0.073)			33	162					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39839765	39839765	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:39839765C>T	ENST00000303538.8	-	32	4260	c.3721G>A	c.(3721-3723)Gta>Ata	p.V1241I		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1241					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCTGCTGTTACTGTTCTTTTC	0.443000													10	16					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36215397	36215397	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:36215397G>C	ENST00000251195.5	-	11	2140	c.2044C>G	c.(2044-2046)Ctt>Gtt	p.L682V	CLSPN_ENST00000520551.1_Intron|CLSPN_ENST00000373220.3_Missense_Mutation_p.L618V|CLSPN_ENST00000318121.3_Missense_Mutation_p.L682V			Q9HAW4	CLSPN_HUMAN	claspin	682					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCACTACTAAGAAGGAATTCT	0.353000													5	19					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904012	5904012	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr20:5904012G>C	ENST00000378961.4	+	4	1426	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	408						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAGTGAGGAAGAGAGGGGCCT	0.522000													46	113					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47276486	47276486	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr20:47276486C>T	ENST00000396220.1	-	16	1874	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	PREX1_ENST00000371941.3_Missense_Mutation_p.V618M			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	618					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTTCTCCACCAGCTTGAAG	0.587000													30	58					0	0	1	0	0
RIC8A	60626	broad.mit.edu	37	11	212753	212753	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:212753G>A	ENST00000526104.1	+	7	2548	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	RIC8A_ENST00000527696.1_Missense_Mutation_p.E396K|RIC8A_ENST00000325207.5_Missense_Mutation_p.E408K			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	402						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGTGCTCTGAGAGTGGTGA	0.587000													21	27					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49912476	49912476	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:49912476G>C	ENST00000447857.3	+	14	1287	c.1082G>C	c.(1081-1083)aGa>aCa	p.R361T		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	361						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCCCAGCTGAGAAGAGTGGGC	0.627000													16	33					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56584534	56584534	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:56584534G>A	ENST00000323456.5	-	9	936	c.812C>T	c.(811-813)tCc>tTc	p.S271F	MTMR4_ENST00000579925.1_Missense_Mutation_p.S271F	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	271	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTGCTGAGGGAGCCCCCAGT	0.607000													34	116					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70666665	70666665	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:70666665C>G	ENST00000373585.3	+	2	393	c.286C>G	c.(286-288)Cta>Gta	p.L96V		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	96						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAAAGATCTACCAAATGG	0.299000													14	57					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438775	84438775	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:84438775G>C	ENST00000416219.2	+	3	341	c.252G>C	c.(250-252)caG>caC	p.Q84H	ATP2C2_ENST00000262429.4_Missense_Mutation_p.Q84H			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	84					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGGTGACGCAGCGCCGGCTGG	0.557000													12	42					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111519792	111519792	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:111519792A>T	ENST00000261486.5	-	18	1819	c.1543T>A	c.(1543-1545)Tgg>Agg	p.W515R	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	515						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ACAGCTTCCCACTGAGGCGCT	0.448000													25	62					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71196744	71196744	+	Silent	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:71196744C>G	ENST00000299886.4	+	6	1190	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	370					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCAACCTGCTCATGTACGTGA	0.473000													45	116					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409626	77409626	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:77409626G>A	ENST00000308488.6	-	7	2923	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	RSF1_ENST00000360355.2_Missense_Mutation_p.S843L|RSF1_ENST00000480887.1_Missense_Mutation_p.S622L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	874					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCCTCTTCTGAAGCTGCAGA	0.453000													43	75					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13135864	13135864	+	Translation_Start_Site	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:13135864G>A	ENST00000588228.1	+	0	134				NFIX_ENST00000587260.1_Silent_p.L18L|NFIX_ENST00000397661.2_Silent_p.L19L|NFIX_ENST00000585575.1_Silent_p.L11L|NFIX_ENST00000592199.1_Silent_p.L19L|NFIX_ENST00000360105.4_Silent_p.L22L|NFIX_ENST00000587760.1_Silent_p.L11L|NFIX_ENST00000358552.3_Silent_p.L18L	NM_001271043.1	NP_001257972.1	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)						DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TCGAGGCACTGCTGCCTCACG	0.622000													11	20					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36476627	36476627	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:36476627C>T	ENST00000312513.5	+	6	797	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	212					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACGGCCAGATCACCGTACGCA	0.547000													35	237					0	0	1	0	0
SH2D4A	63898	broad.mit.edu	37	8	19250976	19250976	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr8:19250976C>G	ENST00000265807.3	+	9	1607	c.1196C>G	c.(1195-1197)tCt>tGt	p.S399C	SH2D4A_ENST00000518040.1_Missense_Mutation_p.S354C|SH2D4A_ENST00000519207.1_Missense_Mutation_p.S399C	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	399	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATCGATGCCTCTGCAGACGCC	0.507000													17	85					0	0	1	0	0
GIPC3	126326	broad.mit.edu	37	19	3586817	3586817	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:3586817C>T	ENST00000322315.5	+	3	462	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	139	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGAGAATCAAGGAAGGCA	0.627000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	40					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830827	830827	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:830827G>A	ENST00000293892.3	-	3	173	c.174C>T	c.(172-174)ttC>ttT	p.F58F	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACGGGTAGGTGAAAGCTGTGT	0.592000													29	119					0	0	1	0	0
TCTA	6988	broad.mit.edu	37	3	49450518	49450518	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:49450518G>A	ENST00000273590.3	+	2	465	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	82						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCCACGCCTGATGGCTCCAC	0.572000													12	39					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118865	4118865	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:4118865C>G	ENST00000324333.10	-	3	341	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	GLIS3_ENST00000381971.3_Missense_Mutation_p.E205Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	50	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCCAAAGACTCACGCGAAATA	0.498000													21	22					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66856755	66856755	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:66856755C>T	ENST00000359742.4	-	9	1231	c.991G>A	c.(991-993)Gag>Aag	p.E331K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E331K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E331K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	331	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGAAGGATCTCAAGCTTGACC	0.557000													6	39					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128582327	128582327	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:128582327C>G	ENST00000402030.2	+	2	264	c.192C>G	c.(190-192)ttC>ttG	p.F64L	IRF5_ENST00000249375.4_Missense_Mutation_p.F64L|IRF5_ENST00000477535.1_Missense_Mutation_p.F64L|IRF5_ENST00000473745.1_Missense_Mutation_p.F64L|IRF5_ENST00000357234.5_Missense_Mutation_p.F64L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	64					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACACCATCTTCAAGGTAAGCC	0.597000													17	51					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48674935	48674935	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chrX:48674935G>C	ENST00000334136.5	+	19	1864	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	HDAC6_ENST00000376619.2_Missense_Mutation_p.E562D|HDAC6_ENST00000444343.2_Missense_Mutation_p.E576D			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	562	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGCACCGTGAGAGTTCCAACT	0.592000													15	5					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10491189	10491189	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:10491189G>T	ENST00000397077.1	-	4	614	c.39C>A	c.(37-39)aaC>aaA	p.N13K	ATP2B2_ENST00000352432.4_Missense_Mutation_p.N13K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.N13K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.N13K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.N13K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	13					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTTCTTTGGTTTTTGGAGT	0.597000													28	70					7.11191e-15	7.78097e-15	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62294417	62294417	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:62294417C>G	ENST00000378024.4	-	5	7746	c.7472G>C	c.(7471-7473)gGc>gCc	p.G2491A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2491					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTTTGGGGCCCCTGATGTT	0.478000													74	123					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73501658	73501658	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:73501658G>A	ENST00000321617.3	-	10	1496	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R222W|CASKIN2_ENST00000581870.1_Missense_Mutation_p.R304W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	304	SH3.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCTGCCCGGACATTGAGA	0.537000													47	168					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49844635	49844635	+	Silent	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:49844635G>C	ENST00000377214.4	-	11	1661	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V	TEAD2_ENST00000601519.1_Silent_p.V433V|TEAD2_ENST00000311227.2_Silent_p.V430V|TEAD2_ENST00000539846.1_Silent_p.V302V|TEAD2_ENST00000593945.1_Silent_p.V434V|TEAD2_ENST00000598810.1_Silent_p.V434V			Q15562	TEAD2_HUMAN	TEA domain family member 2	430	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CGCTGGTGGAGACCTCGAAGA	0.602000													34	82					0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874370	31874370	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr21:31874370G>A	ENST00000334151.2	-	1	65	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	13						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572000													67	118					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230903427	230903427	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:230903427G>C	ENST00000354537.1	+	5	759	c.677G>C	c.(676-678)aGa>aCa	p.R226T	CAPN9_ENST00000366666.2_Missense_Mutation_p.R163T|CAPN9_ENST00000271971.2_Missense_Mutation_p.R226T|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	226	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCTTTGAAGAGAGGCTCCCTG	0.532000													38	150					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579377	55579377	+	Silent	SNP	T	T	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55579377T>C	ENST00000333973.2	+	1	524	c.435T>C	c.(433-435)gcT>gcC	p.A145A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGAGCTGGCTTCTTGCTGCT	0.478000													5	132					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41327626	41327626	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:41327626G>A	ENST00000551295.2	+	9	1048	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CNTN1_ENST00000348761.2_Missense_Mutation_p.E300K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E311K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E311K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E311K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E311K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	311	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTATGAATGTGAGGCTGAGAA	0.353000													23	34					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28557058	28557058	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:28557058A>G	ENST00000383768.2	+	8	918	c.730A>G	c.(730-732)Aaa>Gaa	p.K244E	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K244E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	244							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGCAATTTTAAAATGCTCTTT	0.303000													5	20					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665358	138665358	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:138665358C>G	ENST00000330315.3	-	1	624	c.207G>C	c.(205-207)gaG>gaC	p.E69D		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	69			E -> K (in BPES; sporadic; nuclear aggregation; normal transactivation activity).		convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TCTCCGCGCTCTCGCGGATCG	0.637000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						27	69					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39230197	39230197	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:39230197G>C	ENST00000399820.3	+	17	2023	c.1869G>C	c.(1867-1869)caG>caC	p.Q623H	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.Q463H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	623					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GCCAAACACAGAGTGGAAAAG	0.438000													38	102					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157406142	157406142	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:157406142G>A	ENST00000310454.6	+	7	1056	c.684G>A	c.(682-684)atG>atA	p.M228I	GPD2_ENST00000409125.4_Start_Codon_SNP_p.M1I|GPD2_ENST00000438166.2_Missense_Mutation_p.M228I|GPD2_ENST00000540309.1_Missense_Mutation_p.M228I|GPD2_ENST00000409674.1_Missense_Mutation_p.M228I	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	228					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ATGCACGGATGAACCTTGCCA	0.552000													22	71					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47502654	47502654	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:47502654C>T	ENST00000404338.3	+	5	4130	c.4130C>T	c.(4129-4131)tCt>tTt	p.S1377F	ARHGAP35_ENST00000598548.1_3'UTR	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1377	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TATGTCATCTCTCACCTAAAC	0.463000													3	9					0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1837699	1837699	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:1837699C>T	ENST00000262302.9	+	4	476	c.356C>T	c.(355-357)tCc>tTc	p.S119F	NUBP2_ENST00000565134.1_Missense_Mutation_p.S119F|NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000565987.1_Missense_Mutation_p.S59F|NUBP2_ENST00000543305.1_5'UTR	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	119						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CAGTTTGTGTCCGACGTGGCC	0.657000													45	115					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865826	148865826	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:148865826G>A	ENST00000367467.3	+	18	3695	c.3220G>A	c.(3220-3222)Ggt>Agt	p.G1074S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1074							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGGAGCACGGTGTGAAGCT	0.637000													9	11					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3081930	3081930	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:3081930C>T	ENST00000397461.1	+	19	2757	c.2373C>T	c.(2371-2373)acC>acT	p.T791T	CNTN4_ENST00000358480.3_Silent_p.T572T|CNTN4_ENST00000397459.2_Silent_p.T463T|CNTN4_ENST00000418658.1_Silent_p.T791T|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.T463T|CNTN4_ENST00000427331.1_Silent_p.T791T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	791	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCAGTCCCACCACGGTGGTGT	0.433000													23	51					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106888528	106888528	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:106888528C>A	ENST00000379987.2	+	11	1745	c.1529C>A	c.(1528-1530)gCc>gAc	p.A510D	NPNT_ENST00000453617.2_Missense_Mutation_p.A527D|NPNT_ENST00000427316.2_Missense_Mutation_p.A540D|NPNT_ENST00000514622.1_Missense_Mutation_p.A481D|NPNT_ENST00000506666.1_Missense_Mutation_p.A511D|NPNT_ENST00000305572.8_Missense_Mutation_p.A481D	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	510	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CACGGAGCAGCCCTGTGGGGA	0.572000													14	35					4.36969e-10	4.63541e-10	1	1	0
RTBDN	83546	broad.mit.edu	37	19	12945627	12945627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:12945627G>T	ENST00000589272.1	-	2	379	c.50C>A	c.(49-51)tCg>tAg	p.S17*	RTBDN_ENST00000393233.2_5'UTR|MAST1_ENST00000591495.1_Intron|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.S17*			Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TTCTGTAGCCGAGAAGCGTCC	0.582000													34	53					9.8876e-21	1.09707e-20	1	1	0
FLT1	2321	broad.mit.edu	37	13	28886179	28886179	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr13:28886179G>A	ENST00000282397.4	-	26	3694	c.3443C>T	c.(3442-3444)gCa>gTa	p.A1148V	FLT1_ENST00000540678.1_Missense_Mutation_p.A366V|FLT1_ENST00000543394.1_Missense_Mutation_p.A171V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1148	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CACAAGTTCTGCAAATCTTGG	0.418000													9	56					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12219889	12219889	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:12219889G>A	ENST00000491614.1	-	5	587	c.192C>T	c.(190-192)gtC>gtT	p.V64V	NUDT5_ENST00000378937.3_Silent_p.V77V|NUDT5_ENST00000537776.1_Silent_p.V64V|NUDT5_ENST00000378940.3_Silent_p.V64V|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Silent_p.V64V			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	64	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GCACGGGGATGACCGCGACAC	0.507000													17	31					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035867	110035867	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:110035867G>C	ENST00000453089.2	+	5	2845	c.1964G>C	c.(1963-1965)aGa>aCa	p.R655T	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R687T|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R686T			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	686							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCCTTAACCAGAGGGCAAAGT	0.562000													117	297					0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44462960	44462960	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr20:44462960G>A	ENST00000372542.1	+	1	427	c.115G>A	c.(115-117)Gac>Aac	p.D39N	SNX21_ENST00000491381.1_Missense_Mutation_p.D48N|SNX21_ENST00000342644.5_Missense_Mutation_p.D48N|SNX21_ENST00000462307.1_Missense_Mutation_p.D48N|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_Missense_Mutation_p.D39N			Q969T3	SNX21_HUMAN	sorting nexin family member 21	48					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTGGAGGACGACGACGCCGA	0.726000													9	21					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978081	200978081	+	Splice_Site	SNP	T	T	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:200978081T>C	ENST00000332129.2	-	3	581		c.e3-2		KIF21B_ENST00000461742.2_Splice_Site|KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGCCCCCGTCTGCATTGGCAA	0.607000													17	112					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516274	1516274	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:1516274G>C	ENST00000389470.4	-	38	5679	c.5680C>G	c.(5680-5682)Ctg>Gtg	p.L1894V	INTS1_ENST00000404767.3_Missense_Mutation_p.L1695V			Q8N201	INT1_HUMAN	integrator complex subunit 1	1695					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGAAGTCCAGAGAGGCAGAG	0.647000													22	87					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46518680	46518680	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:46518680G>A	ENST00000263284.2	+	8	1011	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	CCDC61_ENST00000595358.1_Silent_p.K280K|CCDC61_ENST00000536603.1_Intron|CCDC61_ENST00000594087.1_Intron					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CATTGTACAAGAGGGGGTGAG	0.731000													18	25					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150710956	150710956	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr7:150710956G>A	ENST00000297494.3	+	26	3757	c.3400G>A	c.(3400-3402)Gag>Aag	p.E1134K	ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.E928K|NOS3_ENST00000477227.1_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1134					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGGCGACGGAGGGCGACAT	0.692000													9	12					0	0	1	0	0
PFDN2	5202	broad.mit.edu	37	1	161071933	161071933	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:161071933C>T	ENST00000368010.3	-	3	277	c.193G>A	c.(193-195)Gat>Aat	p.D65N	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	65					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGAGTTTCATCTACCTCCTTC	0.537000													16	98					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107002	49107002	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:49107002G>A	ENST00000263266.3	-	4	1114	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	309										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCGGGCTGCGGCCCCGCTGC	0.776000													7	28					0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322621	31322621	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:31322621C>T	ENST00000580599.1	+	3	431	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Silent_p.L77L			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	77					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCTGGTCTGTCTGCTCAGCTG	0.617000													36	66					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686401	108686401	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:108686401C>G	ENST00000397688.2	-	3	702	c.333G>C	c.(331-333)aaG>aaC	p.K111N	CMKLR1_ENST00000312143.7_Missense_Mutation_p.K113N|CMKLR1_ENST00000412676.1_Missense_Mutation_p.K113N|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K111N|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K113N	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	113					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGTTGCTGATCTTGCACATGG	0.532000													33	79					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477742	56477742	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:56477742C>G	ENST00000291971.3	+	5	2448	c.2377C>G	c.(2377-2379)Ctc>Gtc	p.L793V	NLRP8_ENST00000590542.1_Missense_Mutation_p.L793V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	793						cytoplasm	ATP binding			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)		TCTGCAGTGTCTCAGGTGAGA	0.542000													29	50					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67077411	67077411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:67077411C>T	ENST00000308127.4	+	12	1559	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Nonsense_Mutation_p.Q461*	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	461	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCGCCAGCTGCAGATCTACCA	0.662000													29	91					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105481796	105481796	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:105481796G>A	ENST00000393127.2	+	2	518	c.72G>A	c.(70-72)ccG>ccA	p.P24P	GRIA4_ENST00000428631.2_Silent_p.P24P|GRIA4_ENST00000525187.1_Silent_p.P24P|GRIA4_ENST00000282499.5_Silent_p.P24P|GRIA4_ENST00000527669.1_Silent_p.P24P|GRIA4_ENST00000530497.1_Silent_p.P24P|GRIA4_ENST00000393125.2_Silent_p.P24P	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	24					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAGCCTTTCCGAGCAGCGTGC	0.483000													14	46					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708255	36708255	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:36708255G>T	ENST00000264659.7	-	14	2818	c.2594C>A	c.(2593-2595)cCc>cAc	p.P865H	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P899H|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	737	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGGGGGGCTGGGGGGTGGCAT	0.627000													31	135					1.45844e-13	1.5901e-13	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61615962	61615962	+	Silent	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:61615962C>G	ENST00000583023.1	+	8	1904	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	KCNH6_ENST00000314672.5_Silent_p.L631L|KCNH6_ENST00000581784.1_Silent_p.L578L|KCNH6_ENST00000456941.2_Silent_p.L578L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	631					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCTCCACCCTCTACTTCATCT	0.672000													18	46					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46792606	46792606	+	Silent	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr22:46792606C>A	ENST00000262738.3	-	13	5738	c.5739G>T	c.(5737-5739)ctG>ctT	p.L1913L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1913	EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGCAGGGGTTCAGGTGACAGG	0.592000													8	14					0.27861	0.27861	1	1	0
OR5L1	219437	broad.mit.edu	37	11	55579442	55579442	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55579442C>T	ENST00000333973.2	+	1	589	c.500C>T	c.(499-501)cCc>cTc	p.P167L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTAGGATCCCCTTCTATAGA	0.453000													17	216					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125141146	125141146	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:125141146C>A	ENST00000362012.2	+	5	450	c.445C>A	c.(445-447)Cgt>Agt	p.R149S	PTGS1_ENST00000223423.4_Missense_Mutation_p.R149S|PTGS1_ENST00000540753.1_Missense_Mutation_p.R124S|PTGS1_ENST00000373698.5_Missense_Mutation_p.R40S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	149			R -> L (in dbSNP:rs10306140).		cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTATTACACTCGTATTCTGCC	0.542000													3	40					0.150653	0.151135	1	1	0
FYB	2533	broad.mit.edu	37	5	39203000	39203000	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:39203000G>A	ENST00000351578.6	-	2	253	c.63C>T	c.(61-63)ttC>ttT	p.F21F	FYB_ENST00000515010.1_Silent_p.F21F|FYB_ENST00000540520.1_Silent_p.F31F|FYB_ENST00000512982.1_Silent_p.F21F|FYB_ENST00000505428.1_Silent_p.F21F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	21					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTGTGACTCTGAAGGGTCGGC	0.483000													25	61					0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159546011	159546011	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:159546011C>T	ENST00000456329.3	-	1	419	c.385G>A	c.(385-387)Gag>Aag	p.E129K	PWWP2A_ENST00000523662.1_Missense_Mutation_p.E129K|PWWP2A_ENST00000307063.7_Missense_Mutation_p.E129K	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	129	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCGCGCTCCTCGGGAGCC	0.761000													11	42					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77493065	77493065	+	Silent	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr14:77493065C>G	ENST00000238647.3	-	1	1969	c.1071G>C	c.(1069-1071)ctG>ctC	p.L357L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	357						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GGCTCTCGCTCAGCTCGGCCA	0.687000													11	24					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													4	22					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834958	61834958	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr20:61834958C>T	ENST00000370339.3	-	4	675	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G62R	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	112										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						ATGTTGTTCCCCAGGCCCCCA	0.537000													31	67					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259286	43259286	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:43259286G>A	ENST00000404209.4	-	4	938	c.842C>T	c.(841-843)cCg>cTg	p.P281L	PSG8_ENST00000406636.3_Missense_Mutation_p.P159L|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.P188L|PSG8_ENST00000306511.4_Missense_Mutation_p.P281L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	281	Ig-like C2-type 2.					extracellular region		p.P281Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGACTGACCGGGAGGCTCTG	0.453000													64	203					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677060	48677060	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:48677060C>T	ENST00000352832.5	+	16	3833	c.3461C>T	c.(3460-3462)aCa>aTa	p.T1154I	CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1154I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1177I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1154I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1154I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1177I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1154I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.T1177I|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1177I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1154I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1154I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1154I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1177I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1177I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1177I	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	1177					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)	CTGCCAGACACACTGCAGGTG	0.667000													13	36					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33951982	33951982	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:33951982T>A	ENST00000389232.4	+	33	4440	c.4370T>A	c.(4369-4371)tTt>tAt	p.F1457Y	RYR3_ENST00000415757.3_Missense_Mutation_p.F1457Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1457	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTCTTTGTTTCAGTTTGAA	0.438000													13	16					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595176	55595176	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:55595176C>G	ENST00000378397.1	+	1	482	c.482C>G	c.(481-483)tCc>tGc	p.S161C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATTCACTCGTCCTTAGCTCTT	0.488000										HNSCC(27;0.073)			31	158					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27204206	27204206	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:27204206G>A	ENST00000429845.2	-	31	3217	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L	NEK10_ENST00000383771.4_Missense_Mutation_p.S264L|NEK10_ENST00000357467.2_Missense_Mutation_p.S349L|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.S264L|NEK10_ENST00000295720.6_Missense_Mutation_p.S264L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	952							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTGGTCTTGATCCTGTTCC	0.368000													26	41					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559722	48559722	+	Missense_Mutation	SNP	G	G	A	rs137932823	byFrequency	TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:48559722G>A	ENST00000258955.2	+	4	830	c.745G>A	c.(745-747)Gac>Aac	p.D249N		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	249					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCAGCCCCTGACCCGGAGCT	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	92					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10084784	10084784	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:10084784G>A	ENST00000382452.2	-	10	1340	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	WDR1_ENST00000382451.2_Missense_Mutation_p.T213M|WDR1_ENST00000499869.2_Missense_Mutation_p.T353M|WDR1_ENST00000502702.1_Missense_Mutation_p.T213M|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	353					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTTCTCCCCCGTCTCTGAATC	0.572000													4	35					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52957257	52957257	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:52957257G>A	ENST00000244426.6	+	7	886	c.714G>A	c.(712-714)ttG>ttA	p.L238L	FBXO9_ENST00000323557.7_Silent_p.L228L|FBXO9_ENST00000370939.3_Silent_p.L194L	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	238						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TGGCCTGCTTGAAAGTTTGGG	0.403000													29	92					0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130471920	130471920	+	Silent	SNP	C	C	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:130471920C>A	ENST00000373295.2	+	2	421	c.381C>A	c.(379-381)cgC>cgA	p.R127R		NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	127										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCCAGGTGCGCCACGAGTTCC	0.592000													32	20					8.16721e-17	8.96679e-17	1	1	0
AACS	65985	broad.mit.edu	37	12	125626720	125626720	+	Missense_Mutation	SNP	C	C	G	rs150578262	byFrequency	TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:125626720C>G	ENST00000545511.1	+	7	5487	c.500C>G	c.(499-501)tCg>tGg	p.S167W	AACS_ENST00000543665.1_Missense_Mutation_p.S87W|AACS_ENST00000316543.10_Missense_Mutation_p.S253W|AACS_ENST00000316519.6_Missense_Mutation_p.S655W|AACS_ENST00000261686.6_Silent_p.L587L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	655					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGTGCTTTCTCGAACCCCGAG	0.572000													37	111					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45783673	45783673	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:45783673G>C	ENST00000300843.4	+	11	1345	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	MARK4_ENST00000262891.4_Missense_Mutation_p.E350Q	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	350	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGAAATCAAAGAGTCCTTGAC	0.572000													74	188					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68246973	68246973	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr14:68246973C>G	ENST00000347230.4	-	23	4797	c.4659G>C	c.(4657-4659)atG>atC	p.M1553I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.M1553I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1553					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTCTAGAATCATGTTCATGA	0.498000													12	23					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475031	140475031	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:140475031C>T	ENST00000194155.4	+	1	805	c.657C>T	c.(655-657)ggC>ggT	p.G219G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTAGATGGCGGGAGTCCAC	0.552000													14	26					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478068	133478068	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:133478068G>A	ENST00000402696.3	+	9	1583	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	TF_ENST00000264998.3_Silent_p.L239L	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	366	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGTGTGCGCTGAGCCACCACG	0.507000													59	145					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826346	13826346	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr18:13826346C>T	ENST00000324750.3	+	1	804	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	194					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCTCCATGTTCTTCGCTATGC	0.582000													252	423					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78197355	78197355	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr14:78197355C>T	ENST00000261531.7	-	10	1071	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R	SNW1_ENST00000555761.1_Missense_Mutation_p.G337R|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.G175R	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	337	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTTTTGATCCCAGCTCTTCTC	0.358000													24	63					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25136168	25136168	+	Missense_Mutation	SNP	G	G	A	rs143551268		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr8:25136168G>A	ENST00000276440.7	+	5	352	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	DOCK5_ENST00000481100.1_Missense_Mutation_p.R103Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	103						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTCATCTGGCGAAAGCTCTAC	0.582000													15	10					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136071154	136071154	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:136071154C>G	ENST00000401392.1	-	8	1083	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E291Q|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E291Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	291						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTTCCCACTCTTCAAAGCTG	0.363000													31	53					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44921139	44921139	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr6:44921139G>A	ENST00000371460.1	-	11	1059	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	SUPT3H_ENST00000371461.2_Missense_Mutation_p.L248F|SUPT3H_ENST00000371459.1_Missense_Mutation_p.L237F|SUPT3H_ENST00000371458.1_Missense_Mutation_p.L20F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L237F	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	319					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CTCACAAGAAGAGCCAGATCC	0.438000													12	36					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48676746	48676746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chrX:48676746G>A	ENST00000334136.5	+	22	2292	c.2114G>A	c.(2113-2115)tGg>tAg	p.W705*	HDAC6_ENST00000376619.2_Nonsense_Mutation_p.W705*|HDAC6_ENST00000444343.2_Nonsense_Mutation_p.W719*			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	705	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AACGTGGCATGGAACGGGCCC	0.627000													11	4					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332900	70332900	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:70332900C>G	ENST00000373644.4	+	2	1014	c.805C>G	c.(805-807)Cag>Gag	p.Q269E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	269					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCAGCATTCAGTTAGAAGA	0.453000													20	52					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46000914	46000914	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:46000914G>A	ENST00000296137.2	-	12	3763	c.3558C>T	c.(3556-3558)ttC>ttT	p.F1186F	FYCO1_ENST00000535325.1_Silent_p.F1186F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1186					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCATCCAGCTGAACTCCCGCT	0.602000													68	109					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5756257	5756257	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:5756257C>T	ENST00000414202.2	+	16	1929	c.1738C>T	c.(1738-1740)Cat>Tat	p.H580Y	KIAA1432_ENST00000251879.6_Missense_Mutation_p.H580Y|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H501Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H501Y|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H464Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	580						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCCTTTGCTCATGTCACCAA	0.353000													27	28					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56051894	56051894	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:56051894C>T	ENST00000584396.1	-	6	1567	c.1479G>A	c.(1477-1479)atG>atA	p.M493I	VEZF1_ENST00000581208.1_Missense_Mutation_p.M502I			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	502					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTACAGGTCTCATTGCTATAT	0.438000													32	107					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100105771	100105771	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr9:100105771C>T	ENST00000375202.2	+	33	3908	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Silent_p.I849I|CCDC180_ENST00000357054.1_Silent_p.I991I|CCDC180_ENST00000529487.1_Silent_p.I852I|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		CCATGTTCATCAACGACACTT	0.383000													25	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643746	179643746	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:179643746G>A	ENST00000589042.1	-	24	4287	c.4063C>T	c.(4063-4065)Ctt>Ttt	p.L1355F	TTN_ENST00000342175.6_Missense_Mutation_p.L1309F|TTN_ENST00000591111.1_Missense_Mutation_p.L1355F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L1309F|TTN_ENST00000460472.2_Missense_Mutation_p.L1309F|TTN_ENST00000360870.5_Missense_Mutation_p.L1355F|TTN_ENST00000342992.6_Missense_Mutation_p.L1355F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1355	Ig-like 5.						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)			TCTTCTGGAAGAACAACAGGT	0.433000													21	36					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128711982	128711982	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr3:128711982C>G	ENST00000265068.5	-	2	333	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56Q	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GATGAGGACTCGATGCTGCTG	0.592000													44	104					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530628	20530628	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:20530628C>T	ENST00000504154.1	+	16	1771	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	SLIT2_ENST00000503837.1_Missense_Mutation_p.P503S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P511S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P499S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	507	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTGGCTTGCCCTGAAAAGTG	0.413000													29	39					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57126654	57126654	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr17:57126654G>A	ENST00000376149.3	-	15	1858	c.1049C>T	c.(1048-1050)gCt>gTt	p.A350V	TRIM37_ENST00000393066.3_Missense_Mutation_p.A472V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A438V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A472V			O94972	TRI37_HUMAN	tripartite motif containing 37	472	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGACTTCTTAGCTCGTGTCTC	0.458000									Mulibrey Nanism				23	67					0	0	1	0	0
GLOD5	392465	broad.mit.edu	37	X	48631763	48631763	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chrX:48631763G>A	ENST00000303227.6	+	4	436	c.395G>A	c.(394-396)aGa>aAa	p.R132K	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5											endometrium(1)|lung(2)	3						CCAGTCCCCAGAACAGGGGCA	0.488000													19	18					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43969688	43969688	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:43969688C>T	ENST00000244333.3	-	1	124	c.36G>A	c.(34-36)atG>atA	p.M12I		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	12						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CAGTCCAGATCATGGCCTGGG	0.687000													58	115					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657143	40657143	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:40657143G>C	ENST00000406785.2	-	2	467	c.278C>G	c.(277-279)tCt>tGt	p.S93C	SLC8A1_ENST00000332839.4_Missense_Mutation_p.S93C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S93C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S93C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S93C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S93C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCTATGATAGAGACTCCAAG	0.413000													23	74					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	82892035	82892035	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr16:82892035C>G	ENST00000566620.1	+	2	404	c.114C>G	c.(112-114)atC>atG	p.I38M	CDH13_ENST00000446376.2_Missense_Mutation_p.I38M|CDH13_ENST00000428848.3_Missense_Mutation_p.I38M|CDH13_ENST00000268613.10_Missense_Mutation_p.I85M|CDH13_ENST00000431540.3_Missense_Mutation_p.I38M|CDH13_ENST00000565636.1_Missense_Mutation_p.I38M|CDH13_ENST00000567445.1_Missense_Mutation_p.I38M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	38					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.I38M(3)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTTCCATATCAATCAGCCAG	0.373000													16	32					0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159546012	159546012	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:159546012C>T	ENST00000456329.3	-	1	418	c.384G>A	c.(382-384)gaG>gaA	p.E128E	PWWP2A_ENST00000523662.1_Silent_p.E128E|PWWP2A_ENST00000307063.7_Silent_p.E128E	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	128	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCGCGCTCCTCGGGAGCCG	0.761000													11	42					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125195	71125195	+	Silent	SNP	A	A	G			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr15:71125195A>G	ENST00000299213.8	-	3	742	c.672T>C	c.(670-672)ttT>ttC	p.F224F		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	224					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGATGACTCCAAAAGTCCCAA	0.562000													12	32					0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64680524	64680524	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:64680524G>A	ENST00000371076.3	+	5	610	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	122							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGTGCTAGAGAATCCAGTGA	0.333000													10	53					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50335360	50335360	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:50335360G>T	ENST00000312865.6	+	12	1373	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	MED25_ENST00000538643.1_Missense_Mutation_p.K227N	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	440	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCCCAGGAAGACGGAGCAGT	0.672000													18	54					1.01871e-10	1.09546e-10	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22919901	22919901	+	Silent	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:22919901G>A	ENST00000166244.3	+	6	1470	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	466	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAGCAGCCGAACGGCATCA	0.677000													4	15					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697411	124697411	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr10:124697411C>T	ENST00000481909.1	-	5	1137	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	305										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGATCATTTTCAAGAAAGGAA	0.368000													22	34					0	0	1	0	0
KAT5	10524	broad.mit.edu	37	11	65486200	65486200	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr11:65486200G>C	ENST00000341318.4	+	11	1638	c.1404G>C	c.(1402-1404)gaG>gaC	p.E468D	KAT5_ENST00000534650.1_Missense_Mutation_p.E224D|KAT5_ENST00000377046.3_Missense_Mutation_p.E435D|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.E383D|KAT5_ENST00000530446.1_Missense_Mutation_p.E416D	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	435					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AGAGCGGGGAGAGGCCACAGA	0.592000													46	131					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5110722	5110722	+	Silent	SNP	C	C	T			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:5110722C>T	ENST00000159111.4	+	10	1226	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	KDM4B_ENST00000381759.4_Silent_p.G336G|KDM4B_ENST00000536461.1_Silent_p.G336G	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	336					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGAAGCAGGGCAAGGACCTCA	0.672000													4	45					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45783664	45783664	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:45783664G>A	ENST00000300843.4	+	11	1336	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	MARK4_ENST00000262891.4_Missense_Mutation_p.E347K	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	347	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACACGGGAAGAAATCAAAGA	0.542000													74	190					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.15_15L>LL	PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	15					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													6	1	---	---	---	---					
MRPS9	64965	broad.mit.edu	37	2	105705511	105705512	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr2:105705511_105705512insA	ENST00000258455.3	+	6	669_670	c.559_560insA	c.(559-561)gaafs	p.E187fs		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	187					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTGCTCCCAGAAAAAACTGTA	0.317													9	41	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													5	3	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139422512	139422514	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr5:139422512_139422514delCTG	ENST00000541337.1	-	1	370_372	c.141_143delCAG	c.(139-144)agcagg>agg	p.S47del	NRG2_ENST00000289422.7_In_Frame_Del_p.S47del|NRG2_ENST00000289409.4_In_Frame_Del_p.S47del|NRG2_ENST00000361474.1_In_Frame_Del_p.S47del|NRG2_ENST00000545385.1_In_Frame_Del_p.S47del|NRG2_ENST00000394770.1_In_Frame_Del_p.S47del|NRG2_ENST00000358522.3_In_Frame_Del_p.S47del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	47	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gctgctgctcctgctgctgctgc	0.700													2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49433723	49433738	+	Frame_Shift_Del	DEL	TAGTGGGGACAGCCCA	TAGTGGGGACAGCCCA	-			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:49433723_49433738delTAGTGGGGACAGCCCA	ENST00000301067.7	-	31	7814_7829	c.7815_7830delTGGGCTGTCCCCACTA	c.(7813-7830)tatgggctgtccccactafs	p.YGLSPL2605fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.L2340P(1)									ACGGAGGGCGTAGTGGGGACAGCCCATAGCTCTCCC	0.634													18	33	---	---	---	---					
RARG	5916	broad.mit.edu	37	12	53608320	53608321	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr12:53608320_53608321insA	ENST00000425354.2	-	6	1032_1033	c.545_546insT	c.(544-546)ctgfs	p.L182fs	RARG_ENST00000543726.1_Frame_Shift_Ins_p.L160fs|RARG_ENST00000394426.1_Frame_Shift_Ins_p.L182fs|RARG_ENST00000327550.3_Frame_Shift_Ins_p.L110fs|RARG_ENST00000338561.5_Frame_Shift_Ins_p.L171fs|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	182	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACTGAGGGCTCAGCTCATAGCT	0.545													24	69	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52023435	52023439	+	Frame_Shift_Del	DEL	CTCAT	CTCAT	-			TCGA-CU-A5W6-01A-11D-A289-08	TCGA-CU-A5W6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fcca0b3-932e-4e46-b6cc-7df28303c90a	79c3f584-3f68-46cf-bf8d-3cb6806f80b1	g.chr19:52023435_52023439delCTCAT	ENST00000346477.3	-	7	1279_1283	c.1211_1215delATGAG	c.(1210-1215)gatgagfs	p.DE404fs	CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.DE368fs|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.DE420fs|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	420					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGAGCTCCTGCTCATCTTCTGAGAT	0.502													70	213	---	---	---	---					
