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
TRAF3IP3	80342	broad.mit.edu	37	1	209933708	209933708	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:209933708G>A	ENST00000367024.1	+	3	840	c.324G>A	c.(322-324)agG>agA	p.R108R	TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367025.3_Silent_p.R108R|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000010338.4_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTGCCAGAAGGATTTCTTCTC	0.612000													10	9					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696915	11696915	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:11696915G>A	ENST00000262442.3	+	42	8225	c.8157G>A	c.(8155-8157)atG>atA	p.M2719I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M2719I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2719					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGATAAGATGGTAGAAGAAA	0.373000													33	69					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891892	42891892	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:42891892G>A	ENST00000342560.5	+	4	658	c.570G>A	c.(568-570)acG>acA	p.T190T	GDAP1L1_ENST00000537864.1_5'UTR	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	190	GST C-terminal.							p.T190T(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGCCACCACGGACCTCATGA	0.527000													135	169					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585234	43585234	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43585234G>A	ENST00000406487.1	-	2	327	c.229C>T	c.(229-231)Cat>Tat	p.H77Y		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	77	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAATGTAATGGTAGAGGTCC	0.423000													70	129					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690329	17690329	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:17690329A>G	ENST00000399839.1	-	2	509	c.239T>C	c.(238-240)tTc>tCc	p.F80S	CECR1_ENST00000262607.3_Missense_Mutation_p.F80S|CECR1_ENST00000399837.2_Missense_Mutation_p.F80S|CECR1_ENST00000449907.2_Missense_Mutation_p.F38S			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	80	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCTGGGTGGGAATATCAGGGT	0.507000													20	25					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168609	16168609	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:16168609T>A	ENST00000380289.2	+	2	993	c.595T>A	c.(595-597)Tac>Aac	p.Y199N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	199					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTGTGCCCCATACCCACACTC	0.483000													68	24					0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552269	152552269	+	Silent	SNP	G	G	A	rs146594158		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152552269G>A	ENST00000368787.3	-	2	200	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	48					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		AGCCGCCCTCGGAGCTAGGGC	0.667000													38	92					0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90730419	90730419	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:90730419C>G	ENST00000261303.8	+	6	603	c.500C>G	c.(499-501)aCg>aGg	p.T167R	PSMC1_ENST00000543772.2_Missense_Mutation_p.T94R	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	167					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|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|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		ATGGATGACACGGATCCCCTG	0.483000													15	23					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369596	56369596	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56369596C>T	ENST00000301295.6	+	3	1259	c.837C>T	c.(835-837)atC>atT	p.I279I	NLRP4_ENST00000346986.5_Silent_p.I279I|NLRP4_ENST00000587891.1_Silent_p.I204I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	279	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCATCGCTATCAAACCCGTGT	0.547000													31	44					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711082	11711082	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:11711082G>A	ENST00000262442.3	+	44	8522	c.8454G>A	c.(8452-8454)cgG>cgA	p.R2818R	DNAH9_ENST00000454412.2_Silent_p.R2818R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2818	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCCCCGCGGGGAAATGCTC	0.517000													28	50					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43455516	43455516	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:43455516G>A	ENST00000331018.7	-	8	1005	c.765C>T	c.(763-765)atC>atT	p.I255I	TTLL1_ENST00000266254.7_Silent_p.I255I			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	255	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCCCCCATGGATGTGGTTGT	0.602000													10	11					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261772	6261772	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6261772G>A	ENST00000379936.2	+	4	863	c.748G>A	c.(748-750)Gac>Aac	p.D250N	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	250					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGTGGGCGACTTCCTGCT	0.532000													47	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179532364	179532364	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179532364C>T	ENST00000589042.1	-	160	35854		c.e160+1		TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			GTGTTATATACCTTTTGCTAG	0.303000													19	65					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17602838	17602838	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:17602838C>T	ENST00000259963.3	+	2	785	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	244	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATATGTTATTCCATCCTTGGC	0.348000													24	30					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61956812	61956812	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:61956812G>A	ENST00000422202.1	+	27	3403	c.3335G>A	c.(3334-3336)gGa>gAa	p.G1112E	COL20A1_ENST00000435874.1_Missense_Mutation_p.G1112E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1137E|COL20A1_ENST00000358894.6_Missense_Mutation_p.G1105E			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1105	Collagen-like 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGGTCAAAGGAGAGAAGGGA	0.657000													21	23					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584185	7584185	+	Silent	SNP	G	G	A	rs145751089		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7584185G>A	ENST00000379802.3	+	24	7031	c.6690G>A	c.(6688-6690)ccG>ccA	p.P2230P	DSP_ENST00000418664.2_Silent_p.P1631P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2230	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATTGAGACCGTCCACTGTCA	0.458000													21	29					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005444	72005444	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:72005444G>A	ENST00000294053.3	-	15	1868	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	CLPB_ENST00000538039.1_Silent_p.I535I|CLPB_ENST00000543042.1_Silent_p.I364I|CLPB_ENST00000538021.1_Silent_p.I173I|CLPB_ENST00000437826.2_Silent_p.I520I|CLPB_ENST00000340729.5_Silent_p.I506I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	565					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGAAGTAGACGATCTCATTGA	0.557000													7	35					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:58207172G>A	ENST00000302572.2	-	1	474	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000													40	43					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48848458	48848458	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:48848458C>T	ENST00000293261.3	-	4	839	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	TMEM143_ENST00000541566.1_Missense_Mutation_p.A65T|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000435956.3_Missense_Mutation_p.A140T|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	175						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		AGCGCGTAGGCCAGGGTGTCC	0.632000													36	75					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41120250	41120250	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:41120250G>C	ENST00000308370.7	+	22	2911	c.2911G>C	c.(2911-2913)Gcc>Ccc	p.A971P	LTBP4_ENST00000396819.3_Missense_Mutation_p.A904P|LTBP4_ENST00000204005.9_Missense_Mutation_p.A934P|LTBP4_ENST00000545697.1_Missense_Mutation_p.A424P|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_Missense_Mutation_p.A69P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	971	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGAGGCCCAGCCCTGTGCGG	0.662000													13	34					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154420641	154420641	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:154420641C>T	ENST00000368485.3	+	7	1427	c.990C>T	c.(988-990)ccC>ccT	p.P330P	IL6R_ENST00000344086.4_Silent_p.P330P|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	330					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTCCACCCCCATGCAGGTGA	0.527000													45	59					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033106	20033106	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:20033106G>A	ENST00000377340.2	-	2	395	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	CRNKL1_ENST00000377327.4_Missense_Mutation_p.P110S|CRNKL1_ENST00000536226.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	122					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACCGGAAGCGGAACTTGCAGG	0.597000													8	50					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829697	61829697	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:61829697C>T	ENST00000280772.1	-	37	11133	c.10942G>A	c.(10942-10944)Gaa>Aaa	p.E3648K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3648					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATCCCCTTCCCCCTGGTCC	0.483000													23	41					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149324134	149324134	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:149324134C>T	ENST00000255266.5	-	1	222	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	35					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAAGGAGGTCGGAGATGAGC	0.567000													20	34					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86257249	86257249	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:86257249A>G	ENST00000314673.3	-	10	1063	c.887T>C	c.(886-888)cTt>cCt	p.L296P	SNX14_ENST00000505648.1_Missense_Mutation_p.L244P|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.L252P|SNX14_ENST00000369627.2_Missense_Mutation_p.L296P|SNX14_ENST00000513865.1_Missense_Mutation_p.L296P	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	296	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GAAGATGATAAGCAAATGATT	0.299000													8	11					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788868	26788868	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:26788868G>A	ENST00000381588.4	-	5	1903	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	RNF6_ENST00000399762.2_Missense_Mutation_p.S28F|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.S384F|RNF6_ENST00000381570.3_Missense_Mutation_p.S384F	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	384	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GGATCTGCTGGATTCTTCTCC	0.438000													26	45					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138575	56138575	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:56138575G>A	ENST00000373965.2	-	4	679	c.285C>T	c.(283-285)ttC>ttT	p.F95F	PCDH15_ENST00000395440.1_Silent_p.F95F|PCDH15_ENST00000395442.1_Silent_p.F95F|PCDH15_ENST00000395445.1_Silent_p.F95F|PCDH15_ENST00000320301.6_Silent_p.F95F|PCDH15_ENST00000395430.1_Silent_p.F95F|PCDH15_ENST00000395433.1_Silent_p.F73F|PCDH15_ENST00000395438.1_Silent_p.F95F|PCDH15_ENST00000361849.3_Silent_p.F95F|PCDH15_ENST00000437009.1_Silent_p.F95F|PCDH15_ENST00000373957.3_Silent_p.F73F|PCDH15_ENST00000395432.2_Silent_p.F95F|PCDH15_ENST00000395446.1_Silent_p.F95F|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Silent_p.F100F|PCDH15_ENST00000373955.1_Silent_p.F95F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	95	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGTTCAGGAAAAGCATTT	0.383000										HNSCC(58;0.16)			51	98					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98446275	98446275	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:98446275G>A	ENST00000450876.1	-	7	2113	c.798C>T	c.(796-798)atC>atT	p.I266I	TMEM130_ENST00000345589.4_Silent_p.I248I|TMEM130_ENST00000339375.4_Silent_p.I350I|TMEM130_ENST00000546258.1_Silent_p.I331I|TMEM130_ENST00000416379.2_Silent_p.I350I			Q8N3G9	TM130_HUMAN	transmembrane protein 130	350						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATCACAGTGATAAGTGTAG	0.512000													42	77					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:202150030C>T	ENST00000358485.4	+	8	1667	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507000										HNSCC(4;0.00038)			13	47					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431127	75431127	+	Missense_Mutation	SNP	G	G	A	rs138590143		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:75431127G>A	ENST00000198801.5	+	2	252	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	61					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATCTGGACCGAGACAAGCCA	0.567000													87	99					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164704944	164704944	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:164704944C>T	ENST00000264382.3	-	45	5241	c.5179G>A	c.(5179-5181)Gat>Aat	p.D1727N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1727	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTCCATCATCCCAAAACAGA	0.333000										HNSCC(35;0.089)			28	65					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600929	161600929	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:161600929C>T	ENST00000531221.1	-	1	67	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_5'UTR|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000367964.2_Splice_Site			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCCGGAGCCCTAAAGGGACC	0.527000													6	40					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477685	88477685	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:88477685C>T	ENST00000267549.3	+	2	1052	c.494C>T	c.(493-495)tCt>tTt	p.S165F	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	165					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GCCGAAAAGTCTAATTTTACT	0.408000													37	57					0	0	1	0	0
TMEM14A	28978	broad.mit.edu	37	6	52541912	52541912	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:52541912C>T	ENST00000211314.4	+	2	165	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	4						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					TGGACCTGATCGGTTTTGGTT	0.398000													46	96					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945143	151945143	+	Silent	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:151945143A>G	ENST00000355193.2	-	14	2594	c.2376T>C	c.(2374-2376)ccT>ccC	p.P792P	KMT2C_ENST00000262189.6_Silent_p.P792P					lysine (K)-specific methyltransferase 2C																		TGTCATGCGAAGGCAAGTCTG	0.433000													21	541					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085585	153085585	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153085585C>T	ENST00000285900.5	+	11	2124	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	GRIA1_ENST00000448073.4_Missense_Mutation_p.S604F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S604F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S594F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S514F|GRIA1_ENST00000521843.2_Missense_Mutation_p.S525F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	594					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGTGGTTCTCCCTGGGAGCC	0.468000													26	46					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203943	84203943	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:84203943C>T	ENST00000378553.5	+	8	1633	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	503	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CACCACCGCCCCTGGGAGCTG	0.612000													19	19					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010768	27010768	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:27010768C>T	ENST00000314616.6	+	17	2446	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	SUPT6H_ENST00000347486.4_Silent_p.L721L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	721					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGCAGTTCCTCTATGTGCAGA	0.463000													13	33					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880220	37880220	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:37880220C>T	ENST00000436120.2	+	5	1376	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAAGCCTTCAGCAGACGCA	0.433000													24	37					0	0	1	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963163	106963163	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:106963163G>A	ENST00000390621.2	-	0	176																											AGCCTTGCAGGAAACCTTCAC	0.577000													34	59					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141771262	141771262	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:141771262C>T	ENST00000389484.3	-	14	3214	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	748					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAATTTCCATGATGCGA	0.378000										TSP Lung(27;0.18)			22	48					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957459	35957459	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:35957459G>A	ENST00000274278.3	-	5	1263	c.906C>T	c.(904-906)tcC>tcT	p.S302S	UGT3A1_ENST00000507113.1_Silent_p.S268S|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.S302S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	302						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTTCAACATGGAGCCAAAGG	0.478000													22	24					0	0	1	0	0
MIR376C	442913	broad.mit.edu	37	14	101506035	101506035	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:101506035G>A	ENST00000607441.1	+	0	19					NR_029861.1																						TTAAAAGGTGGATATTCCTTC	0.383000													11	20					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452184	41452184	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:41452184C>T	ENST00000400454.1	-	25	4792	c.4315G>A	c.(4315-4317)Gaa>Aaa	p.E1439K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1439	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGAGATTTTCCAAGCGATAG	0.478000													30	61					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429276	57429276	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:57429276A>G	ENST00000371100.4	+	1	1508	c.956A>G	c.(955-957)gAc>gGc	p.D319G	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D319G|GNAS_ENST00000306120.3_Missense_Mutation_p.T256A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.D319G|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGGGGTCGACGACACTCCC	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			17	14					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032635	46032635	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:46032635C>T	ENST00000334662.2	+	1	640	c.618C>T	c.(616-618)tcC>tcT	p.S206S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	206	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCAGACCCTCCTCCTCCGTGT	0.662000													63	112					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732904	112732904	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:112732904G>A	ENST00000295408.4	+	7	1256	c.999G>A	c.(997-999)atG>atA	p.M333I	MERTK_ENST00000421804.2_Missense_Mutation_p.M333I|MERTK_ENST00000409780.1_Missense_Mutation_p.M157I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	333	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTCAGTCATGATTTTTAACA	0.473000													43	97					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941798	12941798	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:12941798G>A	ENST00000235349.5	-	3	822	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	251										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		CTGCTCTGGGGAAACGTAGCG	0.488000													49	204					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901695	40901695	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:40901695G>A	ENST00000324001.7	-	7	2834	c.2564C>T	c.(2563-2565)cCt>cTt	p.P855L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	855					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCACTGAAGGCAGAGTGAG	0.632000													29	43					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723714	142723714	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142723714G>A	ENST00000350513.2	-	1	568	c.506C>T	c.(505-507)tCa>tTa	p.S169L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATGGTCTAATGAATTTGATTT	0.393000													53	93					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835429	102835429	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:102835429G>A	ENST00000264257.2	+	7	867	c.741G>A	c.(739-741)gtG>gtA	p.V247V	IL1RL2_ENST00000441515.2_Silent_p.V129V|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.V247V	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	247	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTCTGATTGTGGACTGCAATG	0.338000													17	18					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940194	64940194	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:64940194G>A	ENST00000377185.2	+	6	638	c.556G>A	c.(556-558)Gac>Aac	p.D186N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	186	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTGGACTCGGGACCGGCGCCC	0.672000													27	36					0	0	1	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193262	90193262	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:90193262G>A	ENST00000390275.2	+	0	369																											AGAAACCAGGGAAAGCTCCTA	0.527000													28	139					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528614	179528614	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179528614T>G	ENST00000589042.1	-	170	36604	c.36380A>C	c.(36379-36381)aAa>aCa	p.K12127T	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10276	Ig-like 80.						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)			GATAACCTCTTTGGAAGCTTC	0.423000													77	78					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115596807	115596807	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:115596807C>T	ENST00000265440.7	-	4	488	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TFEC_ENST00000320239.7_Missense_Mutation_p.G74E|TFEC_ENST00000457268.1_Missense_Mutation_p.G36E|TFEC_ENST00000484212.1_Missense_Mutation_p.G193E|TFEC_ENST00000393485.1_Missense_Mutation_p.G74E	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	103	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGGTGAAATTCCTTGTTCACC	0.333000													22	30					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004235	75004235	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:75004235G>A	ENST00000373359.2	-	1	844	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	218	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCCCAAAGAGGTTGTTGATC	0.488000													28	8					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165987886	165987886	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:165987886G>A	ENST00000360093.3	-	16	2924	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	SCN3A_ENST00000283254.7_Silent_p.I811I|SCN3A_ENST00000409101.3_Silent_p.I762I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	811						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCATGGCAATGATCTTGAGAA	0.388000													26	36					0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3592752	3592752	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:3592752G>A	ENST00000262848.5	-	2	576	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	74	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGAGGGCGAAGAAATGCTTGG	0.537000													36	19					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27995278	27995278	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27995278C>T	ENST00000256398.8	+	10	1347	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	ELP3_ENST00000542181.1_Missense_Mutation_p.R195C|ELP3_ENST00000380353.4_Missense_Mutation_p.R232C|ELP3_ENST00000521015.1_Missense_Mutation_p.R310C|ELP3_ENST00000524103.1_Missense_Mutation_p.R252C|ELP3_ENST00000537665.1_Missense_Mutation_p.R205C	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	324					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCTGGTGATTCGTGGGACCGG	0.473000													24	49					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36091701	36091701	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:36091701C>T	ENST00000225893.4	-	4	1291	c.930G>A	c.(928-930)cgG>cgA	p.R310R	HNF1B_ENST00000560016.1_Silent_p.R310R|HNF1B_ENST00000427275.2_Silent_p.R284R|HNF1B_ENST00000561193.1_Silent_p.R284R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	310					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCAGCTTTTGCCGGAATGCCT	0.622000													30	48					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911152	43911152	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43911152C>T	ENST00000314537.5	+	11	1227	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Silent_p.P294P|CRHR1_ENST00000293493.7_Silent_p.P159P|CRHR1_ENST00000577353.1_Silent_p.P334P|CRHR1_ENST00000398285.3_Silent_p.P363P	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	363					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGTCAATCCCGGGGAGGATG	0.612000													38	65					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217347508	217347508	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:217347508G>A	ENST00000357276.4	+	18	3003	c.2673G>A	c.(2671-2673)gaG>gaA	p.E891E	SMARCAL1_ENST00000358207.5_Silent_p.E891E|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	891					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGTCCTTTGAGAAAGAAGGAA	0.468000									Schimke Immuno-Osseous Dysplasia				97	40					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452373	64452373	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:64452373G>A	ENST00000394323.2	-	2	1532	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		344						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gagcaatacagaattttccaa	0.433000													14	21					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27898640	27898640	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27898640C>T	ENST00000413272.2	-	13	1681	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	NUGGC_ENST00000341513.6_Missense_Mutation_p.M513I	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GAGGCTGCTCCATGCAGGCGA	0.562000													6	16					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961697	73961697	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73961697C>T	ENST00000373468.1	-	3	3346	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E899K			Q5QGS0	K2022_HUMAN	KIAA2022	899					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCATGAATTCCTGGGTGCCA	0.468000													26	4					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410419	5410419	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:5410419G>A	ENST00000399537.4	-	11	4154	c.3806C>T	c.(3805-3807)cCc>cTc	p.P1269L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1269L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1269							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCACCACGGGCACCGCCAC	0.697000													4	16					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967891	4967891	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4967891C>T	ENST00000380373.2	-	1	465	c.440G>A	c.(439-441)gGg>gAg	p.G147E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATACTATCCCTATTTGGGC	0.423000													42	243					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008312	29008312	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:29008312C>T	ENST00000282397.4	-	5	810	c.559G>A	c.(559-561)Gac>Aac	p.D187N	FLT1_ENST00000541932.1_Missense_Mutation_p.D187N|FLT1_ENST00000539099.1_Missense_Mutation_p.D187N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	187	Ig-like C2-type 2.				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)	TTTCTACTGTCCCAGATTATG	0.413000													26	39					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856764	90856764	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:90856764G>A	ENST00000394980.1	+	7	2252	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	MMRN1_ENST00000508372.1_Missense_Mutation_p.D387N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.D645N			Q13201	MMRN1_HUMAN	multimerin 1	645					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGACTTATGATATGGAGAT	0.368000													32	34					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588542	247588542	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247588542G>A	ENST00000366497.2	+	4	2577	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	NLRP3_ENST00000366496.2_Silent_p.K599K|NLRP3_ENST00000348069.2_Silent_p.K599K|NLRP3_ENST00000336119.3_Silent_p.K599K|NLRP3_ENST00000391828.3_Silent_p.K599K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.K599K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	599				K -> M (in Ref. 9).	detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TAAGTTGCAAGATCTCTCAGC	0.443000													9	53					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333849	138333849	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:138333849C>T	ENST00000421622.1	-	4	416	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	SVOPL_ENST00000436657.1_Missense_Mutation_p.G38S|SVOPL_ENST00000419765.3_Missense_Mutation_p.G190S|SVOPL_ENST00000288513.5_Missense_Mutation_p.G38S			Q8N434	SVOPL_HUMAN	SVOP-like	190						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GAGGCCAAGCCAATGATGAGC	0.522000													17	38					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308623	248308623	+	Silent	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248308623C>A	ENST00000366476.1	+	1	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCACACCCCCATGTACTTCC	0.522000													6	409					1.06961e-07	1.07485e-07	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13873225	13873225	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:13873225C>T	ENST00000586600.1	+	10	1189	c.686C>T	c.(685-687)gCt>gTt	p.A229V	CCDC130_ENST00000221554.8_Missense_Mutation_p.A229V|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	229					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGCGGCTCTGCTGAAG	0.647000													24	30					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18570761	18570761	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:18570761C>T	ENST00000329627.6	+	6	1044	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PEX26_ENST00000428061.2_Missense_Mutation_p.L231F|PEX26_ENST00000399744.3_Missense_Mutation_p.L280F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	280					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCTGCACTTCCTCTACAAGCT	0.622000													93	172					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:71571180C>T	ENST00000338482.5	+	3	943	c.600C>T	c.(598-600)atC>atT	p.I200I	ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Silent_p.I200I|CHST4_ENST00000539698.3_Silent_p.I200I			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	200					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000													9	48					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528615	9528615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:9528615C>T	ENST00000281419.3	+	22	2663	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	ASAP2_ENST00000315273.4_Nonsense_Mutation_p.Q775*|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	775	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCTCCCGCCCAGCCTGCAGC	0.592000													8	35					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043678	87043678	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:87043678G>A	ENST00000370563.3	+	12	2087	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	682						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGGGCTCATGGAGGAGCAAAC	0.433000													3	22					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577410	104577410	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:104577410C>T	ENST00000304883.2	-	3	969	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	277						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGGATTTCTCCTCCCCAGAGA	0.393000													13	52					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132236915	132236915	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:132236915C>A	ENST00000321253.6	+	3	368	c.261C>A	c.(259-261)ttC>ttA	p.F87L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	87					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCAGCTCTTCCACCCGGAGC	0.522000													28	84					1.74197e-06	1.74908e-06	1	1	0
PPP1R8	5511	broad.mit.edu	37	1	28169742	28169742	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:28169742C>T	ENST00000373931.4	+	5	907	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	PPP1R8_ENST00000311772.5_Missense_Mutation_p.L180F|PPP1R8_ENST00000236412.7_5'UTR	NM_138558.2	NP_612568.1	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	180	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GATTTCTACCCTTACCATTGA	0.473000													27	97					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175878	140175878	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140175878C>T	ENST00000526136.1	+	1	1329	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGTCCATCGAGGTGGCCG	0.652000													31	69					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256024	50256024	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:50256024G>A	ENST00000420502.1	+	0	1189							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GCCTGCCACAGACGGGGTGGA	0.632000													13	19					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3813832	3813832	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:3813832G>A	ENST00000262961.4	-	14	2238	c.2228C>T	c.(2227-2229)cCc>cTc	p.P743L		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	743						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTCTGTGGAGGGGTCCTCCCG	0.652000													50	61					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967443	46967443	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:46967443C>T	ENST00000374323.3	-	3	1380	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SYT15_ENST00000374321.4_Missense_Mutation_p.E212K|SYT15_ENST00000503753.1_Missense_Mutation_p.E212K|SYT15_ENST00000374325.3_Missense_Mutation_p.E212K			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	212						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						ATGAAGTGCTCGTCAAACTGC	0.607000													20	99					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436016	8436016	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:8436016G>A	ENST00000301455.2	+	5	909	c.738G>A	c.(736-738)gcG>gcA	p.A246A	ANGPTL4_ENST00000393962.2_Silent_p.A208A|ANGPTL4_ENST00000541807.1_Silent_p.A79A	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	246	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCTACAAGGCGGGGTTTGGGG	0.607000													5	15					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58904090	58904090	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:58904090C>T	ENST00000260408.3	-	12	2055	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.G237S|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	538	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GCTGTGAAGCCATTACATATT	0.438000													14	53					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579609	58579609	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:58579609C>T	ENST00000506786.1	+	5	2185	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F	ZNF135_ENST00000401053.4_Missense_Mutation_p.S610F|ZNF135_ENST00000313434.5_Missense_Mutation_p.S586F|ZNF135_ENST00000511556.1_Missense_Mutation_p.S598F|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.S586F			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGTGGGAAATCCTTCAGCCAC	0.547000													30	42					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91722616	91722616	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:91722616A>T	ENST00000359028.2	+	39	9801	c.9576A>T	c.(9574-9576)gaA>gaT	p.E3192D	AKAP9_ENST00000356239.3_Missense_Mutation_p.E3188D|AKAP9_ENST00000358100.2_Missense_Mutation_p.E3138D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3192					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTAAAAGAATTGGAGGCTT	0.383000			T	BRAF	papillary thyroid								20	23					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36180711	36180711	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:36180711G>A	ENST00000540320.1	+	48	7979	c.7445G>A	c.(7444-7446)aGg>aAg	p.R2482K	NBEA_ENST00000537702.1_Missense_Mutation_p.R275K|NBEA_ENST00000379922.3_Missense_Mutation_p.R39K|NBEA_ENST00000400445.3_Missense_Mutation_p.R2482K|NBEA_ENST00000310336.4_Missense_Mutation_p.R2482K|NBEA_ENST00000379939.2_Missense_Mutation_p.R2479K			Q8NFP9	NBEA_HUMAN	neurobeachin	2482	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CGGATCAACAGGATGGTAAGA	0.373000													17	19					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44073952	44073952	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:44073952A>G	ENST00000262726.7	-	13	1596	c.1343T>C	c.(1342-1344)aTg>aCg	p.M448T	EFCAB6_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.M296T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	448	EF-hand 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGCATTTGCATTAGTTCTTT	0.403000													15	50					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14947797	14947797	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:14947797C>T	ENST00000287667.7	+	9	1048	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	293						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTTCCAGATTCCGTTCTATCG	0.438000													25	76					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:2928774G>A	ENST00000397461.1	+	9	1190	c.806G>A	c.(805-807)aGg>aAg	p.R269K	CNTN4_ENST00000427331.1_Missense_Mutation_p.R269K|CNTN4_ENST00000358480.3_Missense_Mutation_p.R50K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	269	Ig-like C2-type 3.				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)		CCAATAGCAAGGAAAGCCAGA	0.408000													15	12					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155547	22155547	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22155547G>A	ENST00000397126.4	-	4	2437	c.2289C>T	c.(2287-2289)acC>acT	p.T763T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATAACTAAGGGTTGAGGACC	0.353000													13	22					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5292012	5292012	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:5292012G>A	ENST00000357006.4	-	4	533	c.195C>T	c.(193-195)ttC>ttT	p.F65F	ZBTB14_ENST00000400143.3_Silent_p.F65F	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CAAGCTTCTTGAAAAGCTTTT	0.368000													12	67					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023635	167023635	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:167023635C>T	ENST00000392766.2	-	17	1861	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	ZBBX_ENST00000392764.1_Silent_p.K478K|ZBBX_ENST00000307529.5_Silent_p.K507K|ZBBX_ENST00000455345.2_Silent_p.K507K|ZBBX_ENST00000392767.2_Silent_p.K507K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	507						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATTTTTCTCCTTTAAATTTC	0.338000													14	14					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21417145	21417145	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:21417145G>A	ENST00000400602.2	-	6	651	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	XPO4_ENST00000255305.6_Silent_p.L206L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	206					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTCCTGCAGAACTTCAACA	0.383000													9	24					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54645476	54645476	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:54645476C>T	ENST00000230640.5	+	12	1570	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P338L	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	439	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AAAAAACTCCCTCAGGTGAGT	0.318000													14	44					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			93	60					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012858	32012858	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:32012858T>G	ENST00000375244.3	-	32	11053	c.10852A>C	c.(10852-10854)Acc>Ccc	p.T3618P	TNXB_ENST00000375247.2_Missense_Mutation_p.T3616P|TNXB_ENST00000451343.1_Missense_Mutation_p.T47P			P22105	TENX_HUMAN	tenascin XB	3663	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTAGGGGGTGCTGGGCTCC	0.642000													8	33					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62993337	62993337	+	Silent	SNP	C	C	T	rs139848057		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:62993337C>T	ENST00000561311.1	+	16	1850	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	TLN2_ENST00000306829.6_Silent_p.D540D			Q9Y4G6	TLN2_HUMAN	talin 2	540					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAAGTCGACGAATCCAAAC	0.507000													3	50					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935671	47935671	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:47935671C>T	ENST00000236877.6	-	9	2537	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R	SLC8A2_ENST00000539381.1_Silent_p.R177R|SLC8A2_ENST00000542837.1_Silent_p.R470R|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	714					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCCGCTCCTCCCGGGACCCGT	0.627000													42	72					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124329702	124329702	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:124329702C>T	ENST00000368909.3	+	3	222	c.116C>T	c.(115-117)cCc>cTc	p.P39L	DMBT1_ENST00000359586.6_Missense_Mutation_p.P39L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P39L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P39L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P39L|DMBT1_ENST00000338354.3_Missense_Mutation_p.P39L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P39L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	39					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGGAGGTGCCCTTGGATCCA	0.552000													15	17					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567097	136567097	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:136567097C>T	ENST00000264162.2	-	8	2830	c.2820G>A	c.(2818-2820)ggG>ggA	p.G940G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	940	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCACATTGCTCCCTGGTGTGT	0.542000													14	46					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804972	22804972	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:22804972G>A	ENST00000361524.3	-	4	3058	c.2910C>T	c.(2908-2910)tcC>tcT	p.S970S	ZNF521_ENST00000584787.1_Silent_p.S750S|ZNF521_ENST00000538137.2_Silent_p.S970S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	970					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTTAAAAGGGAGGGAAACC	0.483000			T	PAX5	ALL								32	42					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41045890	41045890	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:41045890G>A	ENST00000399564.4	-	18	2244	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	MROH2B_ENST00000506092.2_Silent_p.F153F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTTGCTGTTTGAAATCCTGAG	0.428000													59	110					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203834748	203834748	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:203834748C>T	ENST00000320443.8	+	10	2103	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	CARF_ENST00000438828.2_Silent_p.L354L|CARF_ENST00000414439.1_Silent_p.L252L|CARF_ENST00000456821.2_3'UTR|WDR12_ENST00000477723.1_Intron|CARF_ENST00000402905.2_Silent_p.L354L|CARF_ENST00000545253.1_Silent_p.L266L|CARF_ENST00000428585.1_Silent_p.L278L|CARF_ENST00000545262.1_Silent_p.L278L					calcium responsive transcription factor																		TTTTAACATGCTAAAGAAGAA	0.313000													5	24					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558289	159558289	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:159558289G>A	ENST00000255040.2	+	2	560	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	155	Pentaxin.		E -> G.		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCTGGGGCAGGAACAGGATTC	0.488000													31	29					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50589841	50589841	+	Nonsense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:50589841T>A	ENST00000360473.4	+	1	452	c.212T>A	c.(211-213)tTa>tAa	p.L71*	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000312942.1_Nonsense_Mutation_p.L71*	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	71	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.L71S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CACCAGCTTTTATTACCCACT	0.383000													46	109					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155291925	155291925	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:155291925G>A	ENST00000368352.5	+	2	512	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.V121I|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	121						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCTGTCTCAGTCTACTTGCG	0.637000													10	78					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485973	8485973	+	Silent	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:8485973A>G	ENST00000381196.4	-	25	3387	c.2844T>C	c.(2842-2844)aaT>aaC	p.N948N	PTPRD_ENST00000358503.5_Silent_p.N926N|PTPRD_ENST00000360074.4_Silent_p.N935N|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Silent_p.N948N|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Silent_p.N948N|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	948	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATAATGCCATTTCTCTCTG	0.473000										TSP Lung(15;0.13)			42	25					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394679	164394679	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:164394679C>T	ENST00000280605.3	-	1	368	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	70						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGAACCGGTCGTTGTCCGGG	0.552000													5	23					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290726	5290726	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5290726C>T	ENST00000380237.1	-	4	617	c.273G>A	c.(271-273)gaG>gaA	p.E91E	HBE1_ENST00000292896.2_Silent_p.E91E|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAGTGCAGCTCACTCAGCT	0.458000													23	52					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750329	142750329	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142750329G>A	ENST00000418316.1	+	1	913	c.892G>A	c.(892-894)Gtg>Atg	p.V298M		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGTTAAAACAGTGCTACAGGG	0.532000													21	26					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52553311	52553311	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:52553311T>A	ENST00000261839.7	-	10	1222	c.1061A>T	c.(1060-1062)cAc>cTc	p.H354L	MYO5C_ENST00000443683.2_Missense_Mutation_p.H297L|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	354	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CACCTTCAGGTGACTGTCATC	0.567000													8	17					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707184	54707184	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:54707184C>T	ENST00000545554.1	+	18	4852	c.4852C>T	c.(4852-4854)Cct>Tct	p.P1618S	UNC13C_ENST00000537900.1_Missense_Mutation_p.P1616S|UNC13C_ENST00000260323.11_Missense_Mutation_p.P1618S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1618					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTAGGTTTCCTCAAGAGCT	0.303000													13	22					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155209783	155209783	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:155209783G>A	ENST00000327247.5	-	4	433	c.201C>T	c.(199-201)ccC>ccT	p.P67P	GBA_ENST00000427500.2_Silent_p.P67P|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.2_5'UTR|GBA_ENST00000536770.1_Intron|GBA_ENST00000368373.3_Silent_p.P67P	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	67					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GAAAGGTCGGGGGGTCAAAGG	0.602000									Gaucher disease type I				30	35					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7809173	7809173	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:7809173G>A	ENST00000380358.4	+	28	4402		c.e28-1		CHD3_ENST00000358181.4_Splice_Site|CHD3_ENST00000330494.7_Splice_Site	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCACCCTCAGGTGCTGGGCT	0.567000													47	93					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138651666	138651666	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:138651666C>T	ENST00000298480.5	+	11	1070	c.996C>T	c.(994-996)gtC>gtT	p.V332V	KCNT1_ENST00000371757.2_Silent_p.V332V|KCNT1_ENST00000263604.3_Silent_p.V313V|KCNT1_ENST00000491806.2_Silent_p.V299V|KCNT1_ENST00000487664.1_Silent_p.V287V|KCNT1_ENST00000490355.2_Silent_p.V313V|KCNT1_ENST00000488444.2_Silent_p.V313V|KCNT1_ENST00000486577.2_Silent_p.V293V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	332						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCTGGTGGTCATCATGATCT	0.632000													20	9					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274889	65274889	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:65274889C>T	ENST00000381210.3	-	1	291	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TECRL_ENST00000507440.1_Missense_Mutation_p.E61K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	61					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATTTCAATCTCAAAGTGAGTC	0.328000													10	13					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29678492	29678492	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:29678492C>G	ENST00000397938.2	+	6	846	c.527C>G	c.(526-528)cCt>cGt	p.P176R	EWSR1_ENST00000414183.2_Missense_Mutation_p.P182R|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000333395.6_Missense_Mutation_p.P176R|EWSR1_ENST00000332050.6_Missense_Mutation_p.P176R|EWSR1_ENST00000331029.7_Missense_Mutation_p.P176R|EWSR1_ENST00000406548.1_Missense_Mutation_p.P176R	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	176	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCAGGTACCTGGGAGCTAC	0.498000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								24	32					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943465	89943465	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:89943465G>A	ENST00000405460.2	+	17	3269	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1058	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGAAAAAGGAGAAACGCTC	0.413000													33	61					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570405	55570405	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55570405C>T	ENST00000373965.2	-	35	4808	c.4414G>A	c.(4414-4416)Ggg>Agg	p.G1472R	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1472R|PCDH15_ENST00000395438.1_Missense_Mutation_p.M1488I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.M1099I|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1469R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGGCGACTCCCATATTGAGGC	0.408000										HNSCC(58;0.16)			37	85					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26816315	26816315	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:26816315C>T	ENST00000444914.3	+	2	606	c.186C>T	c.(184-186)ttC>ttT	p.F62F	SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Silent_p.F62F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	62						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCCCTCTTCCCCTTAATCC	0.617000													23	36					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408426	29408426	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:29408426C>T	ENST00000444197.2	+	1	1344	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCCTTTGGCCTCATCCTGGG	0.587000													85	129					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416202	124416202	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:124416202C>T	ENST00000409039.3	+	74	12607	c.12582C>T	c.(12580-12582)atC>atT	p.I4194I	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4194					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGTGGTATCAGCCGCGATG	0.507000													19	41					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71134991	71134991	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:71134991G>A	ENST00000333538.5	+	8	1935	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	434						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTCTCCGAAAGAAGAGCATTA	0.463000													39	71					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922556	55922556	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55922556C>T	ENST00000244728.5	-	30	3170	c.2773G>A	c.(2773-2775)Gga>Aga	p.G925R	COL21A1_ENST00000370808.2_Missense_Mutation_p.G291R|COL21A1_ENST00000535941.1_Missense_Mutation_p.G925R|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G922R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTTGGATTCCAGGTTTTCCA	0.512000													7	15					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103288526	103288526	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:103288526C>T	ENST00000553106.1	-	3	811	c.339G>A	c.(337-339)aaG>aaA	p.K113K	PAH_ENST00000307000.2_Silent_p.K108K|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	113					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGTCTTTCTTCTTATCTCGTG	0.378000													21	45					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119686	47119686	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47119686G>A	ENST00000290341.3	+	9	1358	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E203K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	342	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E342K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCGAGCAGGAAATAATGAA	0.517000													29	65					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817436	38817436	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:38817436C>T	ENST00000263372.3	+	2	633	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	176						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTTGGTGGCCCTGTTGGGGGT	0.642000													38	84					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48129705	48129705	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:48129705C>T	ENST00000244043.4	-	8	1147	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	373					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTTGAATTCTCGCCCGTCTGC	0.602000													45	42					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700682	55700682	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55700682G>A	ENST00000373965.2	-	25	3591	c.3197C>T	c.(3196-3198)tCt>tTt	p.S1066F	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1066F|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1059F|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1059F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1037F|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1059F|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1059F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S988F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1022F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S670F|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1064F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1059	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAGCAGCAGAAATTACACC	0.368000										HNSCC(58;0.16)			20	31					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811123	140811123	+	Silent	SNP	T	T	C	rs62344939		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:140811123T>C	ENST00000509479.2	-	2	2323	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	MAML3_ENST00000398940.1_Silent_p.Q28Q|MAML3_ENST00000327122.5_Silent_p.Q333Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	489	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgttgctgttgct	0.547000													3	30					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61865798	61865798	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:61865798G>A	ENST00000280772.1	-	28	3384	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S	ANK3_ENST00000503366.1_Missense_Mutation_p.P1066S|ANK3_ENST00000355288.2_Missense_Mutation_p.P199S|ANK3_ENST00000373827.2_Missense_Mutation_p.P1059S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1065	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAAAGTGAGGGATTTCCACT	0.338000													9	25					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40222086	40222086	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:40222086C>T	ENST00000221804.4	-	4	438	c.363G>A	c.(361-363)gtG>gtA	p.V121V		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	121	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GCACCATCTTCACAGCCTCAG	0.408000													84	124					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965150	9965150	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9965150C>T	ENST00000264833.4	-	6	1262	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	OLFM2_ENST00000590841.1_Silent_p.R281R	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	359	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGTCCCAGGACCGCATGACCT	0.657000													35	62					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542060	62542060	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:62542060G>A	ENST00000430451.2	+	3	1141	c.944G>A	c.(943-945)gGa>gAa	p.G315E	SYT16_ENST00000446982.2_Missense_Mutation_p.G315E|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	315										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AATAGCCGGGGATTTGAAGAT	0.512000													33	63					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318683	30318683	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:30318683C>T	ENST00000375377.1	-	3	495	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	132								p.E132K(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCAGGTTTTCGTGCTCCCTC	0.607000													56	115					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661843	54661843	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:54661843C>T	ENST00000474759.1	+	10	1041	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA2D3_ENST00000415676.2_Silent_p.F331F|CACNA2D3_ENST00000288197.5_Silent_p.F331F|CACNA2D3_ENST00000490478.1_Silent_p.F237F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	331	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F331F(1)		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)		ACAAACTTTTCGCCAAAGGAA	0.413000													7	16					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35819162	35819162	+	Silent	SNP	C	C	T	rs139143749	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:35819162C>T	ENST00000374704.4	+	7	750	c.570C>T	c.(568-570)atC>atT	p.I190I	CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Silent_p.I136I|CCNY_ENST00000265375.9_Silent_p.I136I|CCNY_ENST00000339497.5_Silent_p.I165I	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	190	Cyclin N-terminal.			I -> V (in Ref. 5; BAB71409).	cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						AATGTGCCATCGTCACCCTGG	0.582000													16	19					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301619	113301619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:113301619C>T	ENST00000297405.5	-	57	9367	c.9123G>A	c.(9121-9123)tgG>tgA	p.W3041*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2971*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W2872*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3001*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3041	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGATCCACTCCAATGGCCAT	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	48					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077597	1077597	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:1077597G>A	ENST00000441003.2	+	3	374		c.e3-1		MUC2_ENST00000359061.5_Splice_Site	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming							inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCTCCGCCAGGGTCAGCACC	0.687000													4	5					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389971	128389971	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:128389971C>T	ENST00000389524.4	+	38	5378	c.5325C>T	c.(5323-5325)gtC>gtT	p.V1775V	MYO7B_ENST00000409090.1_Silent_p.V627V|MYO7B_ENST00000409816.2_Silent_p.V1774V|MYO7B_ENST00000428314.1_Silent_p.V1774V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1774	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCAGAAGGTCCTGAGGTGAG	0.672000													30	78					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931042	73931042	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:73931042T>G	ENST00000302351.4	-	2	2399	c.1269A>C	c.(1267-1269)aaA>aaC	p.K423N	ENC1_ENST00000510316.1_Missense_Mutation_p.K350N|ENC1_ENST00000537006.1_Missense_Mutation_p.K423N	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	423					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CCATGGTCCATTTGTTGATTG	0.547000													33	60					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601985	58601985	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:58601985G>A	ENST00000287275.1	-	6	1192	c.802C>T	c.(802-804)Cta>Tta	p.L268L	GLYATL2_ENST00000532258.1_Silent_p.L268L	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	268						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGTGCCTGTAGGCTTTTCTCA	0.388000													27	29					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53611302	53611302	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:53611302T>C	ENST00000342160.3	-	40	5462	c.5005A>G	c.(5005-5007)Aat>Gat	p.N1669D	HUWE1_ENST00000262854.6_Missense_Mutation_p.N1669D|HUWE1_ENST00000218328.8_Intron			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1669	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTTTCCTCATTAACCTAGGAA	0.433000													18	10					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215820984	215820984	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:215820984C>T	ENST00000366943.2	-	67	15057	c.14671G>A	c.(14671-14673)Ggg>Agg	p.G4891R	USH2A_ENST00000307340.3_Missense_Mutation_p.G4891R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4891	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTTCTGCCCCAGCCCCGTG	0.557000										HNSCC(13;0.011)			23	33					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579664	7579664	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7579664G>A	ENST00000379802.3	+	23	3582	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	DSP_ENST00000418664.2_Missense_Mutation_p.E1081K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1081	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGCCTGGAGGAGCTGAAGAG	0.473000													38	62					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814394	106814394	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:106814394C>T	ENST00000407775.2	+	8	2334	c.2084C>T	c.(2083-2085)aCc>aTc	p.T695I	ZFPM2_ENST00000520492.1_Missense_Mutation_p.T563I|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T426I|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T563I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	695					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCAACATTACCTTCAGCCGG	0.468000													15	23					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502499	140502499	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140502499G>A	ENST00000194152.1	+	1	919	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		307	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAAAATTGGATTTCGAAAA	0.373000													68	110					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104703	168104703	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:168104703G>A	ENST00000409195.1	+	9	6890	c.6801G>A	c.(6799-6801)atG>atA	p.M2267I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2267I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M2045I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2092					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATGGCAATGGAAAGGTCCT	0.423000													20	51					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571508	37571508	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:37571508C>T	ENST00000399151.3	+	3	364	c.279C>T	c.(277-279)atC>atT	p.I93I	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	93					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTTTAAAATCGTGGGGACCA	0.473000													23	52					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18924092	18924092	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:18924092T>A	ENST00000284878.7	+	3	984	c.236T>A	c.(235-237)aTt>aAt	p.I79N	CXADR_ENST00000400166.1_Missense_Mutation_p.I79N|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.I79N|CXADR_ENST00000400165.1_Missense_Mutation_p.I79N|CXADR_ENST00000400169.1_Missense_Mutation_p.I79N	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	79	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GGAGACAAAATTTATGATGAC	0.338000													8	12					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757072	56757072	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:56757072G>C	ENST00000326855.2	+	1	726	c.684G>C	c.(682-684)atG>atC	p.M228I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCCTGAAAATGTCTTCTAGTG	0.428000													60	51					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837005	196837005	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:196837005G>A	ENST00000312428.6	-	16	2119	c.2019C>T	c.(2017-2019)atC>atT	p.I673I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	673	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCTTTAATGATTTTCCTGT	0.318000													19	27					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285910	130285910	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:130285910C>T	ENST00000358511.6	+	4	1678	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	COL6A6_ENST00000453409.2_Silent_p.S549S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	549	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGGCATGTCCAAGGATAGCA	0.478000													36	62					0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:49928133G>A	ENST00000322066.3	-	2	81	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	28					defense response to bacterium	extracellular region		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000													19	22					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321090	129321090	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:129321090C>T	ENST00000281437.4	+	4	729	c.633C>T	c.(631-633)tcC>tcT	p.S211S	BARX2_ENST00000531946.1_Silent_p.S89S|BARX2_ENST00000526127.1_Silent_p.S66S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	211										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGAAGAACTCCATCCCCACAT	0.488000													25	24					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102979140	102979140	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:102979140C>T	ENST00000409599.1	+	3	376	c.20C>T	c.(19-21)cCc>cTc	p.P7L	IL18R1_ENST00000233957.1_Missense_Mutation_p.P7L|IL18R1_ENST00000334376.3_Missense_Mutation_p.P7L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	7					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGAGAATTACCCTTGACCCTT	0.368000													20	81					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004278	248004278	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248004278C>T	ENST00000355784.2	-	1	976	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACCACATTTCCTTCTCATGA	0.383000													38	32					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064649	78064649	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:78064649C>T	ENST00000299642.4	+	3	617	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.L169L	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	169	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAACTGTGTCCTGTTCTCCCA	0.527000													6	57					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220684	108220684	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:108220684C>T	ENST00000273353.3	-	4	330	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	92	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGATTTTGTCCTCCTTTATG	0.413000													42	80					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019619	75019619	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:75019619C>T	ENST00000261978.4	-	5	1554	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D390N|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	390					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.D390Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACTTGGGATCGTGCCCATGG	0.632000													11	12					0	0	1	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4054881	4054881	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:4054881G>A	ENST00000322357.4	-	2	628	c.350C>T	c.(349-351)cCc>cTc	p.P117L	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.P117L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	117					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCACGGCGGGGATCTCCAG	0.687000													5	9					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688573	111688573	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:111688573G>A	ENST00000431670.2	+	16	3763	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1118K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E609K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E1075K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E1075K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1102K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1118						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTCCGGAAGGAAGACTTTGA	0.453000													22	55					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								24	29					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97345795	97345795	+	Silent	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:97345795A>T	ENST00000266742.4	+	16	2286	c.1947A>T	c.(1945-1947)ctA>ctT	p.L649L	NEDD1_ENST00000557644.1_Silent_p.L656L|NEDD1_ENST00000429527.2_Silent_p.L649L|NEDD1_ENST00000411739.2_Silent_p.L560L|NEDD1_ENST00000457368.2_Silent_p.L560L	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	649				L -> P (in Ref. 1; BAC04099).	cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTGAAAGACTACGAGAAGAAA	0.338000													4	23					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587470	135587470	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:135587470G>A	ENST00000513104.1	-	6	1728	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRPC7_ENST00000426057.2_Silent_p.F366F|TRPC7_ENST00000355180.3_Silent_p.F421F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	482					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAGGCCACGAAGATGGACA	0.572000													15	31					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170508449	170508449	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:170508449C>A	ENST00000367763.3	+	2	255	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	GORAB_ENST00000367762.1_Missense_Mutation_p.Q79K|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	79						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTGGGCTTCAAGATGGATC	0.463000													14	83					4.14922e-12	4.19006e-12	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412219	51412219	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:51412219G>A	ENST00000319760.6	-	1	229	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGCAAGGAAGAAATACATTG	0.418000													14	21					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627718	145627718	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:145627718C>T	ENST00000296575.3	+	5	1522	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	289						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCTCGCATTCCATCCCAATT	0.413000													9	7					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239894	125239894	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:125239894G>A	ENST00000259357.2	-	1	341	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAAAAATATGAAAAAATATG	0.413000													33	13					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832699	130832699	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:130832699C>T	ENST00000357462.5	-	15	2439	c.2346G>A	c.(2344-2346)atG>atA	p.M782I	POTEF_ENST00000409914.2_Missense_Mutation_p.M782I			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	782	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGATCTTCTCCATGTCATCCC	0.582000													42	58					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38260359	38260359	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:38260359G>A	ENST00000373045.6	+	1	886	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	MANEAL_ENST00000397631.3_Missense_Mutation_p.E169K	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	169						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGGACCCCGAAGTGCTGCG	0.711000													6	43					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403767	47403767	+	Missense_Mutation	SNP	C	C	T	rs145173494	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:47403767C>T	ENST00000310638.4	-	2	269	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.E80K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.E80K	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	80					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGAATGTCTCCACCCATTTC	0.488000													16	94					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852549	137852549	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:137852549C>T	ENST00000409968.1	+	4	1235	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	THSD7B_ENST00000543459.1_Missense_Mutation_p.R212C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R353C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R322C					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAAGACATGCCGTTCAGGGAG	0.527000													24	27					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:147092834C>T	ENST00000361727.3	+	10	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)			45	80					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658726	167658726	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:167658726C>T	ENST00000357154.3	-	11	1170	c.1033G>A	c.(1033-1035)Ggt>Agt	p.G345S	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.G247S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G345S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G345S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G342S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G342S|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G225S|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G213S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G345S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G249S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G302S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.G247S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G294S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G342S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	345	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTGTAGTAACCATCTTCATCA	0.428000													33	47					0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552270	152552270	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152552270G>A	ENST00000368787.3	-	2	199	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	48					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCCGCCCTCGGAGCTAGGGCC	0.667000													39	92					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36776363	36776363	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:36776363C>T	ENST00000361475.2	-	5	854	c.681_splice	c.e5+1	p.M227_splice	TGM2_ENST00000536724.1_Splice_Site_p.M167_splice|TGM2_ENST00000536701.1_Splice_Site_p.M146_splice	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	227					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACTCACTCACCATGCCACTCA	0.677000													6	15					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131477090	131477090	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:131477090C>T	ENST00000291906.4	+	13	1991	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	533	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCAAACGTCCCCATATGGAG	0.617000													35	34					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126040941	126040941	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:126040941A>C	ENST00000318410.7	-	28	3693	c.3344T>G	c.(3343-3345)aTa>aGa	p.I1115R	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I967R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1115					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AATTTCAGGTATCTTCTGGCT	0.413000													12	28					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79815661	79815661	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:79815661C>T	ENST00000282226.4	+	4	622	c.467C>T	c.(466-468)tCc>tTc	p.S156F	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	156										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ACCGTGATATCCTTCTTTCCA	0.393000													22	67					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588256	204588256	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:204588256C>T	ENST00000367175.1	-	1	3077	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRN2_ENST00000367177.3_Missense_Mutation_p.E289K|LRRN2_ENST00000367176.3_Missense_Mutation_p.E289K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	289					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGTCCCAGCTCCTTAAGGTGC	0.587000													16	89					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110820132	110820132	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:110820132C>T	ENST00000282356.4	+	11	1788	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	CAMK4_ENST00000512453.1_Missense_Mutation_p.P464S|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	464					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTTGAAGTTCCACAGCAAGA	0.507000													14	20					0	0	1	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292377	89292377	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:89292377G>A	ENST00000495489.1	-	0	73																											GGAGCCCCAGGAGCTGAGCGG	0.552000													18	90					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857223	9857223	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:9857223G>A	ENST00000396573.2	-	14	4487	c.4178C>T	c.(4177-4179)tCc>tTc	p.S1393F	GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1279S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P1122S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1279S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1393F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1393F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1393					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCGCCTGGGATGGCAACGA	0.547000													16	45					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976413	4976413	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4976413G>A	ENST00000380371.1	-	1	530	c.531C>T	c.(529-531)tcC>tcT	p.S177S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTAGGAATGGGATAATTGGT	0.418000													37	23					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980466	136980466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:136980466G>A	ENST00000359015.4	-	9	1777	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	473					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAGTAGCTCTGGAGTTTTTCC	0.428000													38	58					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014077	25014077	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:25014077C>T	ENST00000382114.4	-	7	885	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	234						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTGAACGTATCCACTGAAACC	0.463000													31	49					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508064	26508064	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:26508064G>A	ENST00000376261.3	+	4	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_ENST00000376248.1_Missense_Mutation_p.D13N|GAD2_ENST00000259271.3_Missense_Mutation_p.D127N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	127					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAAAGTTTCGATAGATCAAC	0.393000													27	44					0	0	1	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784913	149784913	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:149784913C>T	ENST00000331491.1	-	1	323	c.324G>A	c.(322-324)acG>acA	p.T108T		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	108					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGCACAGGTTCGTGTCTTCGA	0.627000													40	33					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713392	70713392	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:70713392C>T	ENST00000530196.1	-	0	1126					NR_003951.1																						CCAGGTATCTCCTTGAAAATT	0.403000													54	124					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891401	173891401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:173891401G>A	ENST00000264111.6	+	24	2539	c.2352G>A	c.(2350-2352)tgG>tgA	p.W784*	RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.W785*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.W785*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.W632*|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.W614*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.W641*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.W632*|RAPGEF4_ENST00000535187.1_Nonsense_Mutation_p.W565*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTTATGATTGGGAACTCTTCA	0.438000													21	31					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78326665	78326665	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:78326665G>A	ENST00000255189.3	-	10	1702	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V	DMGDH_ENST00000540686.1_Silent_p.V178V|DMGDH_ENST00000380311.4_Silent_p.V357V	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	558					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTTTGGAATGACATTTGCAA	0.378000													5	27					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974885	64974885	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64974885A>C	ENST00000399262.2	-	8	1260	c.1042T>G	c.(1042-1044)Ttg>Gtg	p.L348V	JMJD1C_ENST00000542921.1_Missense_Mutation_p.L166V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L129V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L129V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	348					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTATTCATCAAGTGTTTGTTT	0.289000													11	12					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119216149	119216149	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:119216149C>G	ENST00000296498.3	-	11	2266	c.1984G>C	c.(1984-1986)Ggg>Cgg	p.G662R	PRSS12_ENST00000510903.1_Intron	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCGTAGCCCCGCAGAGGAGC	0.532000													9	37					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606988	55606988	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55606988A>T	ENST00000378396.1	+	1	761	c.761A>T	c.(760-762)cAt>cTt	p.H254L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCATCTTCCATGGCACCATC	0.527000													13	66					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535231	71535231	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:71535231G>A	ENST00000355327.3	+	5	842	c.708G>A	c.(706-708)caG>caA	p.Q236Q	THSD4_ENST00000261862.6_Silent_p.Q236Q			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	236	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGACTGCAGGCTGCGGAGG	0.567000													11	49					0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124623763	124623763	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:124623763C>T	ENST00000278927.5	-	7	1081	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	318					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGCCGGAGGGCTCGTGCGGAG	0.652000													14	44					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064443	78064443	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:78064443G>A	ENST00000299642.4	+	3	411	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.G100E	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	100	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TCCAAAGGAGGAATCCTGGTT	0.478000													11	47					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78727930	78727930	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:78727930C>T	ENST00000306801.3	+	6	1137	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	RPTOR_ENST00000537330.1_Missense_Mutation_p.P74S|RPTOR_ENST00000570891.1_Missense_Mutation_p.P259S|RPTOR_ENST00000544334.2_Missense_Mutation_p.P259S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	259					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCCGACCTCCCGGCTGACCT	0.637000													77	168					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149196	52149196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:52149196C>T	ENST00000360844.6	-	3	580	c.539G>A	c.(538-540)tGg>tAg	p.W180*	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	180	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ATTCCCCGTCCAGGAGAATGT	0.657000													3	5					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940160	68940160	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:68940160C>T	ENST00000433211.1	-	7	1136	c.962G>A	c.(961-963)aGg>aAg	p.R321K	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R321K|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R321K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	321					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTGTAAGTCCCTCGTACATGA	0.502000													17	36					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7152774	7152774	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:7152774A>T	ENST00000341500.5	-	10	2233	c.2194T>A	c.(2194-2196)Ttt>Att	p.F732I	INSR_ENST00000302850.5_Missense_Mutation_p.F732I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	732					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATCCTCAAACGTCTTCCTA	0.547000													59	109					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16026862	16026862	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:16026862C>T	ENST00000505450.1	-	5	1168	c.556G>A	c.(556-558)Gat>Aat	p.D186N	PROM1_ENST00000447510.2_Missense_Mutation_p.D195N|PROM1_ENST00000508167.1_Missense_Mutation_p.D186N|PROM1_ENST00000539194.1_Missense_Mutation_p.D195N|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000543373.1_Missense_Mutation_p.D186N|PROM1_ENST00000510224.1_Missense_Mutation_p.D195N|PROM1_ENST00000540805.1_Missense_Mutation_p.D195N	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	195					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAATTGCTATCTGCCAGTTTC	0.423000													54	69					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87076521	87076521	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:87076521C>T	ENST00000265723.4	-	9	945	c.833_splice	c.e9-1	p.R278_splice	ABCB4_ENST00000359206.3_Splice_Site_p.R278_splice|ABCB4_ENST00000358400.3_Splice_Site_p.R278_splice|ABCB4_ENST00000545634.1_Splice_Site_p.R278_splice|ABCB4_ENST00000453593.1_Splice_Site_p.R278_splice	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	278	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTTTCTGATACCTACCAGAAA	0.338000													11	20					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306529	54306529	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:54306529G>A	ENST00000545554.1	+	1	1429	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	UNC13C_ENST00000537900.1_Missense_Mutation_p.G477R|UNC13C_ENST00000260323.11_Missense_Mutation_p.G477R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	477					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTAACAAAGGGAAGTACTTC	0.378000													30	45					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525765	42525765	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:42525765G>A	ENST00000360608.5	-	2	441	c.327C>T	c.(325-327)atC>atT	p.I109I	CYP2D6_ENST00000359033.4_Silent_p.I109I|CYP2D6_ENST00000389970.3_Silent_p.I109I|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	109							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGAAACCCAGGATCTGGGTGA	0.697000													17	33					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91727477	91727477	+	Silent	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:91727477T>C	ENST00000359028.2	+	43	10899	c.10674T>C	c.(10672-10674)atT>atC	p.I3558I	AKAP9_ENST00000356239.3_Silent_p.I3554I|AKAP9_ENST00000358100.2_Silent_p.I3504I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3558					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAAAATATTGATGAAATTA	0.318000			T	BRAF	papillary thyroid								12	33					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292266	6292266	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6292266C>T	ENST00000525462.1	+	4	1047	c.1044C>T	c.(1042-1044)tgC>tgT	p.C348C	CCKBR_ENST00000334619.2_Silent_p.C279C|CCKBR_ENST00000532715.1_Silent_p.C195C|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	279					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACGGGCGTTGCCGGCCTGAGA	0.662000													26	42					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129238505	129238505	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:129238505C>T	ENST00000296266.3	+	30	3911	c.3719C>T	c.(3718-3720)cCc>cTc	p.P1240L	IFT122_ENST00000507564.1_Missense_Mutation_p.P1182L|IFT122_ENST00000348417.2_Missense_Mutation_p.P1189L|IFT122_ENST00000347300.2_Missense_Mutation_p.P1130L|IFT122_ENST00000440957.2_Missense_Mutation_p.P980L|IFT122_ENST00000349441.2_Missense_Mutation_p.P1079L|IFT122_ENST00000431818.2_Missense_Mutation_p.P1039L|IFT122_ENST00000504021.1_Missense_Mutation_p.P1066L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1189					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGCCCCCACCCCTGAGGTGG	0.632000													38	52					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77310494	77310494	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:77310494G>A	ENST00000558012.1	+	2	531	c.42G>A	c.(40-42)agG>agA	p.R14R	PSTPIP1_ENST00000379595.3_Silent_p.R14R|PSTPIP1_ENST00000559295.1_Silent_p.R14R|PSTPIP1_ENST00000267939.5_Silent_p.R13R	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	14	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CACAGTGCAGGGACTTCACAG	0.607000													3	4					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201333435	201333435	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:201333435G>A	ENST00000509001.1	-	10	736	c.450C>T	c.(448-450)aaC>aaT	p.N150N	TNNT2_ENST00000458432.2_Silent_p.N162N|TNNT2_ENST00000360372.4_Silent_p.N145N|TNNT2_ENST00000421663.2_Silent_p.N152N|TNNT2_ENST00000367315.2_Silent_p.N150N|TNNT2_ENST00000367317.4_Silent_p.N150N|TNNT2_ENST00000367320.2_Silent_p.N120N|TNNT2_ENST00000367322.1_Silent_p.N150N|TNNT2_ENST00000367318.5_Silent_p.N150N|TNNT2_ENST00000236918.7_Silent_p.N155N	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	160					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CAGCCAGGCGGTTCTGCCGCT	0.647000													7	28					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640689	76640689	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:76640689C>T	ENST00000369950.3	-	15	2413	c.2224G>A	c.(2224-2226)Gga>Aga	p.G742R	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	742					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCTCCCTTTCCCTGGAGGACC	0.527000													29	47					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520626	33520626	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:33520626G>A	ENST00000297307.5	-	1	786	c.701C>T	c.(700-702)tCt>tTt	p.S234F		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	234						integral to membrane											GCCTGGCACAGAGCCCAGCAG	0.627000													54	66					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259437	24259437	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24259437C>T	ENST00000538205.1	+	13	1462	c.915C>T	c.(913-915)ttC>ttT	p.F305F	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.F305F|ADAMDEC1_ENST00000256412.4_Silent_p.F384F|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	384	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GTTCAAAATTCCCAAAGGATT	0.363000													21	29					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783229	54783229	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:54783229G>A	ENST00000391748.1	-	5	756	c.629C>T	c.(628-630)cCc>cTc	p.P210L	LILRB2_ENST00000314446.5_Missense_Mutation_p.P210L|LILRB2_ENST00000434421.1_Missense_Mutation_p.P94L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P210L|LILRB2_ENST00000391746.1_Missense_Mutation_p.P210L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	210	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGATCACTGGGTGAAGACCA	0.592000													42	62					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790355	4790355	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4790355G>A	ENST00000380383.1	-	1	813	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R265C			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	265						integral to membrane	olfactory receptor activity	p.R265C(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGACCATAGCGATACACCAAG	0.512000													20	29					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2934388	2934388	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:2934388C>A	ENST00000261596.4	-	8	1467	c.1229G>T	c.(1228-1230)gGt>gTt	p.G410V		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	410					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGGTTCTAGACCCTTTAAGTC	0.353000													6	27					0.00198382	0.00198543	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55924028	55924028	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55924028C>T	ENST00000244728.5	-	29	3018	c.2621G>A	c.(2620-2622)aGa>aAa	p.R874K	COL21A1_ENST00000370808.2_Missense_Mutation_p.R240K|COL21A1_ENST00000535941.1_Missense_Mutation_p.R874K|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.R871K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	874	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCCCCATTTCTTCCTGGTAG	0.443000													10	16					0	0	1	0	0
FAM69A	388650	broad.mit.edu	37	1	93312881	93312881	+	Silent	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:93312881A>C	ENST00000370310.4	-	4	403	c.333T>G	c.(331-333)gtT>gtG	p.V111V		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	111						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		GACATTTCACAACACCTGGTA	0.328000													4	38					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76854560	76854560	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:76854560C>T	ENST00000491677.2	-	8	1400	c.858G>A	c.(856-858)gaG>gaA	p.E286E	DUSP13_ENST00000372700.3_Silent_p.E207E|DUSP13_ENST00000472493.2_Silent_p.E157E|DUSP13_ENST00000464872.1_Silent_p.E106E|DUSP13_ENST00000605915.1_Silent_p.E179E|DUSP13_ENST00000607131.1_Silent_p.E250E|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_Silent_p.E293E	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	148						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E286D(1)|p.E157D(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCGTCATGTTCTCACAGATCA	0.587000													12	29					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045588	80045588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:80045588G>A	ENST00000306749.2	-	19	3234	c.3016C>T	c.(3016-3018)Cag>Tag	p.Q1006*		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1006					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGGATGCCCTGGAAATGAGGG	0.647000													8	23					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5254274	5254274	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5254274C>T	ENST00000380299.3	-	3	578	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	122			E -> V (in Manzanares; unstable; dbSNP:rs35790721).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGAATTCCTTGCCAAAG	0.512000													16	45					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729414	22729414	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:22729414C>T	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAAAAAGTCCAAGAGTATAT	0.398000													24	83					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26895181	26895181	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:26895181G>A	ENST00000407690.1	-	9	1501	c.1218C>T	c.(1216-1218)acC>acT	p.T406T	TFIP11_ENST00000405938.1_Silent_p.T406T|TFIP11_ENST00000407148.1_Silent_p.T406T|TFIP11_ENST00000407431.1_Silent_p.T406T	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	406					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TGTCCTGCAGGGTTTCGAAGA	0.587000													26	50					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078243	90078243	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:90078243C>T	ENST00000390270.2	+	0	377																											AGACTTCACTCTCACCATCAG	0.537000													11	30					0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49019251	49019251	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:49019251C>T	ENST00000412696.2	+	1	24	c.24C>T	c.(22-24)gcC>gcT	p.A8A	MAGIX_ENST00000376339.1_5'UTR|MAGIX_ENST00000425661.2_Silent_p.A8A	NM_024859.2	NP_079135.2	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	8								p.A8A(1)									CAGGGGGCGCCGCGAACCCTA	0.682000													7	3					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65167281	65167281	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:65167281C>T	ENST00000317568.5	+	8	1041	c.878C>T	c.(877-879)tCt>tTt	p.S293F	FRMD8_ENST00000355991.5_Missense_Mutation_p.S237F|FRMD8_ENST00000416776.2_Missense_Mutation_p.S259F	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	293	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						AAGCCAGTTTCTGTGGCCATC	0.632000													38	46					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595494	152595494	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152595494G>A	ENST00000335674.1	-	1	85	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	29					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCTGGAGGAAGCTGGAGG	0.652000													47	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446729	179446729	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179446729C>T	ENST00000589042.1	-	315	66591	c.66367G>A	c.(66367-66369)Ggt>Agt	p.G22123S	TTN_ENST00000342992.6_Missense_Mutation_p.G19555S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13058S|TTN_ENST00000359218.5_Missense_Mutation_p.G13183S|TTN_ENST00000591111.1_Missense_Mutation_p.G20482S|TTN_ENST00000342175.6_Missense_Mutation_p.G13250S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20482	Fibronectin type-III 60.						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)			TATTCGGTACCTTCTTGAAGA	0.443000													55	63					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184192255	184192255	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:184192255C>A	ENST00000403733.3	+	16	2622	c.2423C>A	c.(2422-2424)gCa>gAa	p.A808E	WWC2_ENST00000448232.2_Missense_Mutation_p.A808E|WWC2_ENST00000513834.1_Missense_Mutation_p.A759E|WWC2_ENST00000504005.1_Missense_Mutation_p.A490E	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	808										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ATCAGCCTGGCAGATTTACCA	0.333000													6	19					0.00116845	0.00117035	1	1	0
FARP1	10160	broad.mit.edu	37	13	99042300	99042300	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:99042300C>T	ENST00000376586.2	+	10	1281	c.945C>T	c.(943-945)ttC>ttT	p.F315F	FARP1_ENST00000319562.6_Silent_p.F315F|FARP1_ENST00000595437.1_Silent_p.F315F			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	315	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATCATGCCTTCTTTAGACTTT	0.493000													54	117					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465736	1465736	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:1465736G>A	ENST00000535453.1	+	14	4149	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	APC2_ENST00000233607.2_Silent_p.Q812Q|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.Q538Q			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	812					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)		CCTTCCTGCAGGGGCAGGCGC	0.741000													3	5					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41581082	41581082	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:41581082G>A	ENST00000396942.1	-	8	864	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	ANK1_ENST00000396945.1_Missense_Mutation_p.R261W|ANK1_ENST00000352337.4_Missense_Mutation_p.R261W|ANK1_ENST00000265709.8_Missense_Mutation_p.R294W|ANK1_ENST00000289734.7_Missense_Mutation_p.R261W|ANK1_ENST00000347528.4_Missense_Mutation_p.R261W|ANK1_ENST00000379758.2_Missense_Mutation_p.R261W			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	261	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R261W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGCTCCCCGATCCAGCAGC	0.652000													36	65					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369259	78369259	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:78369259C>T	ENST00000278550.7	-	34	8616	c.8154G>A	c.(8152-8154)cgG>cgA	p.R2718R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTGTCCAGGCCCGCAGGCCTT	0.662000													20	60					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336847	126336847	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:126336847C>T	ENST00000394329.3	+	5	6742	c.6729C>T	c.(6727-6729)tcC>tcT	p.S2243S	FAT4_ENST00000335110.5_Silent_p.S541S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2243	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATACCTCCACGGTCAGCA	0.438000													13	57					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864686	13864686	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:13864686G>A	ENST00000265104.4	-	28	4520	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1472	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCATCAATGATCTTCTTCA	0.512000									Kartagener syndrome				19	40					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654961	31654961	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:31654961G>A	ENST00000340345.4	-	1	315	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	97						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCTGATGGGGAGTTGCAGGG	0.562000													27	35					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590696	83590696	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:83590696C>T	ENST00000265362.3	-	17	2621	c.2307G>A	c.(2305-2307)agG>agA	p.R769R	SEMA3A_ENST00000436949.1_Silent_p.R769R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	769	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCAGACACTCCTGGGTGCCC	0.418000													48	92					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903137	22903137	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:22903137C>T	ENST00000166244.3	+	3	659	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EPHA8_ENST00000538803.1_Missense_Mutation_p.S196F|EPHA8_ENST00000374644.4_Missense_Mutation_p.S196F	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	196	Cys-rich.					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)		GCCATCCTCTCTCTCCGCATC	0.622000													12	62					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56089394	56089394	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:56089394C>T	ENST00000373965.2	-	7	1061	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	PCDH15_ENST00000395440.1_Missense_Mutation_p.E223K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E223K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E223K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E223K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E223K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E201K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E223K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E223K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E223K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E201K|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.E223K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E228K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E223K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	223	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTTATCTTCATAGTTGAGC	0.323000										HNSCC(58;0.16)			50	72					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402343	67402343	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:67402343G>A	ENST00000335385.3	-	3	408	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	107					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						AGTCGGCCAGGGAGTCCATGC	0.657000													20	27					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454793	100454793	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:100454793T>G	ENST00000395996.1	+	23	3486	c.3375T>G	c.(3373-3375)agT>agG	p.S1125R	VPS13B_ENST00000357162.2_Missense_Mutation_p.S1125R|VPS13B_ENST00000358544.2_Missense_Mutation_p.S1125R			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1125					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATTATTAGTGCTGGGCACA	0.418000													21	24					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													4	81					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65240079	65240079	+	Silent	SNP	C	C	G	rs145156898		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:65240079C>G	ENST00000389722.3	-	24	5090	c.5037G>C	c.(5035-5037)gcG>gcC	p.A1679A	SPTB_ENST00000542895.1_Silent_p.A1679A|SPTB_ENST00000389720.3_Silent_p.A1679A|SPTB_ENST00000389721.5_Silent_p.A1679A|SPTB_ENST00000556626.1_Silent_p.A1679A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1679					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGCTCTTCCGCCACGTCCT	0.552000													57	98					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425710	75425710	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:75425710G>A	ENST00000305249.4	-	1	1116	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TACR1_ENST00000409848.3_Silent_p.F117F	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	117					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AGATACTGGCGAAGACAGCGG	0.493000													8	57					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46506328	46506328	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:46506328G>A	ENST00000231751.4	-	1	325	c.30C>T	c.(28-30)ttC>ttT	p.F10F	LTF_ENST00000417439.1_Silent_p.F10F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	10					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GGGCCCCGAGGAACAGCAGGA	0.642000													9	40					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553734	19553734	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:19553734C>T	ENST00000409832.3	+	1	370	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	106										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGCTGCA	0.607000													75	788					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25492319	25492319	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:25492319G>A	ENST00000453082.2	+	0	2780					NR_003343.1																						GAGACCGGAGGAAGACTTGCA	0.582000													11	12					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180053175	180053175	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:180053175G>A	ENST00000261937.6	-	9	1272	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	FLT4_ENST00000393347.3_Silent_p.T398T|FLT4_ENST00000502649.1_Silent_p.T398T|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	398	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGGGCGAGGGTGTAGGTGC	0.657000													37	61					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593192	11593192	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:11593192G>A	ENST00000262442.3	+	20	4121	c.4053G>A	c.(4051-4053)agG>agA	p.R1351R	DNAH9_ENST00000454412.2_Silent_p.R1351R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1351	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAGGTCAGGGCCTGGGATG	0.587000													6	7					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984373	77984373	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:77984373G>A	ENST00000310924.2	-	3	480	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	122						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGGCTGGTGGGAGGCTCCTGA	0.701000													11	18					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25216038	25216038	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:25216038G>A	ENST00000404969.1	+	1	150	c.150G>A	c.(148-150)ccG>ccA	p.P50P				P10826	RARB_HUMAN	retinoic acid receptor, beta	50	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ATCCGCCTCCGAGTGGATGCA	0.552000													16	34					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103696260	103696260	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:103696260G>A	ENST00000548048.1	-	9	1004	c.508C>T	c.(508-510)Ccg>Tcg	p.P170S	C12orf42_ENST00000378113.2_Missense_Mutation_p.P237S|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.P237S			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	237										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTGTTACTCGGGCCGGTGCTC	0.662000													29	28					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990408	89990408	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:89990408G>A	ENST00000405460.2	+	33	7931	c.7835G>A	c.(7834-7836)aGg>aAg	p.R2612K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2612					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGATACACAGGACAGGGGGC	0.468000													68	95					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73712464	73712464	+	Missense_Mutation	SNP	G	G	A	rs76629964		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:73712464G>A	ENST00000314032.4	-	7	1484	c.932C>T	c.(931-933)cCg>cTg	p.P311L	UCP3_ENST00000348534.4_Missense_Mutation_p.P209L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	311					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGTTCAAAACGGTGATTCCCG	0.498000													12	28					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457382	42457382	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:42457382C>T	ENST00000262407.5	-	17	1771	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ITGA2B_ENST00000353281.4_Missense_Mutation_p.M580I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	580					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GAAGGAAGGCCATGGTGGTGT	0.637000													18	28					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65479980	65479980	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:65479980C>T	ENST00000519389.1	+	19	3416	c.3237C>T	c.(3235-3237)ttC>ttT	p.F1079F	HEPH_ENST00000336279.5_Silent_p.F758F|HEPH_ENST00000419594.1_Silent_p.F836F|HEPH_ENST00000441993.2_Silent_p.F1028F|HEPH_ENST00000374727.3_Silent_p.F1028F|HEPH_ENST00000343002.2_Silent_p.F1025F			Q9BQS7	HEPH_HUMAN	hephaestin	1025	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGATCTGTTCCCAGGGACTT	0.522000													32	9					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805390	54805390	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54805390C>T	ENST00000306858.7	+	5	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	541				R -> S (in Ref. 4; BAB70873).						autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCGGCTTCGTTCCTCTTT	0.418000													18	31					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841842	5841842	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5841842G>A	ENST00000317037.2	+	1	299	c.277G>A	c.(277-279)Gag>Aag	p.E93K	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAACCTCAAGGAGATTGACTT	0.517000													26	80					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201602	248201602	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248201602C>T	ENST00000366479.2	+	1	129	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACTGATTTCATCTTATTGG	0.358000													78	43					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564685	22564685	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:22564685G>A	ENST00000390452.2	+	0	154																											CTGCCTGTATGAAACAAGTTG	0.438000													63	98					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047714	9047714	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9047714G>A	ENST00000397910.4	-	5	34120	c.33917C>T	c.(33916-33918)gCc>gTc	p.A11306V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11308	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGAAATGGCTGAGCTGGA	0.483000													16	25					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17637746	17637746	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:17637746T>C	ENST00000262077.2	-	16	2101	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	NUP153_ENST00000537253.1_Missense_Mutation_p.N732S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	701					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCCACTTTTATTTGGTGTTTC	0.408000													54	98					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741101	140741101	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140741101C>T	ENST00000522605.1	+	1	1399	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAATCCTCCTGGCGCCTC	0.552000													40	66					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474954	78474954	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:78474954C>T	ENST00000258873.4	-	7	953	c.748G>A	c.(748-750)Gag>Aag	p.E250K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E8K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E8K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	250					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATGAATTCCTCCATCTGTAGC	0.607000													15	52					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923851	158923851	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:158923851C>T	ENST00000367097.3	+	13	4513	c.3156C>T	c.(3154-3156)tcC>tcT	p.S1052S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1052					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)		CCGGAGCCTCCCTGGCCCATA	0.711000													8	24					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735928	158735928	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158735928G>A	ENST00000335094.2	-	1	564	c.545C>T	c.(544-546)cCt>cTt	p.P182L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CAGCACAGGAGGGAAGTCACA	0.478000													14	103					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50856632	50856632	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50856632C>T	ENST00000395562.2	+	10	1584	c.1115C>T	c.(1114-1116)aCt>aTt	p.T372I	CHAT_ENST00000337653.2_Missense_Mutation_p.T454I|CHAT_ENST00000395559.2_Missense_Mutation_p.T336I|CHAT_ENST00000339797.1_Missense_Mutation_p.T336I|CHAT_ENST00000351556.3_Missense_Mutation_p.T336I|CHAT_ENST00000455728.2_Missense_Mutation_p.T336I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	454					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTGCAGTGCACTGAGCATCTG	0.592000													7	17					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247302	19247302	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:19247302C>T	ENST00000527884.1	-	11	2235	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	E2F8_ENST00000250024.4_Missense_Mutation_p.R668K|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	668					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTAAATCCTGTGGTTTGG	0.473000													56	58					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293814	45293814	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:45293814C>T	ENST00000447098.2	-	14	1770	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	PTCH2_ENST00000372192.3_Missense_Mutation_p.G587R	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	587					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGTACTGTCCCGTCCCCCAGC	0.582000									Basal Cell Nevus syndrome				19	97					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259901	47259901	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:47259901C>T	ENST00000318584.5	+	4	1491	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	FKRP_ENST00000391909.3_Silent_p.V398V|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	398						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGCGGTCGAGGGCGACT	0.632000													11	12					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69233100	69233100	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:69233100C>T	ENST00000462284.1	+	11	1267	c.965C>T	c.(964-966)cCa>cTa	p.P322L	MDM2_ENST00000350057.5_Missense_Mutation_p.P291L|MDM2_ENST00000348801.2_Missense_Mutation_p.P90L|MDM2_ENST00000299252.4_Missense_Mutation_p.P146L|MDM2_ENST00000258148.7_Missense_Mutation_p.P267L|MDM2_ENST00000258149.5_Missense_Mutation_p.P261L|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Missense_Mutation_p.P95L|MDM2_ENST00000393410.1_Missense_Mutation_p.P68L|MDM2_ENST00000393412.3_Missense_Mutation_p.P43L|MDM2_ENST00000393413.3_Missense_Mutation_p.P43L|MDM2_ENST00000360430.2_Missense_Mutation_p.P121L|MDM2_ENST00000356290.4_Missense_Mutation_p.P146L|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.P121L	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	316	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CCCCCCCTTCCATCACATTGC	0.423000			A		"""sarcoma, glioma, colorectal, other"""								48	75					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64020016	64020016	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:64020016G>A	ENST00000443617.2	-	17	3263	c.3176C>T	c.(3175-3177)gCt>gTt	p.A1059V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1059					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATACTGCCAGCAGCTGAGAC	0.408000													10	42					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460375	160460375	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:160460375C>T	ENST00000368059.3	-	4	816	c.747G>A	c.(745-747)agG>agA	p.R249R	SLAMF6_ENST00000368055.1_Silent_p.R138R|SLAMF6_ENST00000368057.3_Silent_p.R249R	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	249						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTTCTTTTCCTCAAAACAA	0.393000													13	35					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90450890	90450890	+	Silent	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:90450890T>C	ENST00000335725.4	+	9	1165	c.915T>C	c.(913-915)atT>atC	p.I305I	TDP1_ENST00000393452.3_Silent_p.I305I|TDP1_ENST00000357382.3_Silent_p.I66I|TDP1_ENST00000555880.1_Silent_p.I305I|TDP1_ENST00000393454.2_Silent_p.I305I	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	305					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACCCACGAATTGCTGATGGAA	0.403000								Repair of DNA-protein crosslinks					54	100					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284543	27284543	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:27284543C>T	ENST00000317338.12	-	12	2745	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	SEZ6_ENST00000360295.9_Missense_Mutation_p.D773N|SEZ6_ENST00000442608.3_Missense_Mutation_p.D773N|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	773	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TCTCCAGGATCGTGGCAGGAA	0.562000													13	21					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80873678	80873678	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:80873678C>T	ENST00000533983.1	+	18	2157	c.1818C>T	c.(1816-1818)tcC>tcT	p.S606S	ARNT2_ENST00000303329.4_Silent_p.S617S|ARNT2_ENST00000527771.1_Silent_p.S606S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	617					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCCCCCTCTCCAGCCCAGCTA	0.577000													17	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215821889	215821889	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:215821889G>A	ENST00000366943.2	-	66	14949	c.14563C>T	c.(14563-14565)Ccc>Tcc	p.P4855S	USH2A_ENST00000307340.3_Missense_Mutation_p.P4855S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4855	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P4855S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACCATTGGGGAACATGGGG	0.537000										HNSCC(13;0.011)			58	29					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157613	155157613	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:155157613C>T	ENST00000357232.3	-	25	6825	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2276	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCATTTTTTCATAATCCAGA	0.343000													36	80					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177245530	177245530	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:177245530G>A	ENST00000361539.4	+	6	1284	c.972G>A	c.(970-972)caG>caA	p.Q324Q	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		324						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCAGATCCAGGACTCCTGGG	0.567000													6	41					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326716	37326716	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:37326716G>A	ENST00000262825.5	+	8	1091	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CSF2RB_ENST00000406230.1_Missense_Mutation_p.E292K|CSF2RB_ENST00000403662.3_Splice_Site_p.E286_splice|CSF2RB_ENST00000536485.1_Missense_Mutation_p.E233K	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	286					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCTCCTCAGGGAGGAAGAGTG	0.682000													19	27					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73166000	73166000	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:73166000G>A	ENST00000545377.1	+	21	2708	c.2532G>A	c.(2530-2532)gaG>gaA	p.E844E	ARHGEF28_ENST00000296799.4_Silent_p.E531E|ARHGEF28_ENST00000426542.2_Silent_p.E844E|ARHGEF28_ENST00000513042.2_Silent_p.E844E|ARHGEF28_ENST00000287898.5_Silent_p.E844E|ARHGEF28_ENST00000437974.1_Silent_p.E844E|ARHGEF28_ENST00000296794.6_Silent_p.E844E	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		ATAGGCAGGAGAAGGATGTCA	0.438000													22	28					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4119493	4119493	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:4119493G>A	ENST00000465828.1	-	8	1007	c.722C>T	c.(721-723)cCa>cTa	p.P241L	ECI2_ENST00000380118.3_Missense_Mutation_p.P271L|C6orf201_ENST00000430835.2_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.P241L|ECI2_ENST00000413766.2_Missense_Mutation_p.P104L|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.P241L			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	271	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GTGACTAAATGGTGTATGAAA	0.378000													26	51					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47122410	47122410	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47122410C>T	ENST00000290341.3	+	12	1712	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.P321S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	460	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CACTGGACCGCCAGAGGCCCA	0.463000													45	65					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39058424	39058424	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:39058424G>A	ENST00000355481.4	+	92	13642	c.13511G>A	c.(13510-13512)gGg>gAg	p.G4504E	RYR1_ENST00000360985.3_Missense_Mutation_p.G4504E|RYR1_ENST00000359596.3_Missense_Mutation_p.G4509E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4509	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCGAGAATGGGGAGAAGGAA	0.587000													22	49					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884131	205884131	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:205884131G>A	ENST00000367134.2	-	22	2666	c.2553C>T	c.(2551-2553)agC>agT	p.S851S	SLC26A9_ENST00000367135.3_3'UTR|SLC26A9_ENST00000340781.4_Silent_p.S851S	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCTGTTTTTGGCTCACTCGTA	0.557000													75	46					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154026837	154026837	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:154026837G>A	ENST00000368559.3	-	25	3421	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	NUP210L_ENST00000271854.3_Missense_Mutation_p.S1117F|NUP210L_ENST00000368553.1_Missense_Mutation_p.S50F	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1117						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTACTGATGGAGAAGTGAAC	0.463000													28	54					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38907262	38907262	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:38907262C>T	ENST00000312150.4	-	5	961	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	301	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGCTTCATTTCAGTCAGCTCA	0.473000													39	69					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480236	140480236	+	Translation_Start_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140480236G>A	ENST00000231130.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		1					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)			AAAGTGCAATGGAGGCGGGAG	0.527000													15	32					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153355	5153355	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5153355C>T	ENST00000307388.1	-	1	517	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R173Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACTGTAGTTCGATAGTGTTT	0.448000													40	54					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806844	2806844	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:2806844C>T	ENST00000602557.1	-	69	10937	c.10382G>A	c.(10381-10383)gGa>gAa	p.G3461E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G3460E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3283E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3461E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3284E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3284E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTAAATTTTCCAAAGTCTTT	0.328000													7	20					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086458	56086458	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:56086458C>T	ENST00000312711.1	+	1	676	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGTAGCCATTCTCAGGATGAA	0.393000													7	28					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530113	41530113	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:41530113C>T	ENST00000396942.1	-	38	4938	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	ANK1_ENST00000396945.1_Missense_Mutation_p.E1619K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1619K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1660K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1619K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1619K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1619K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1619	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCACAAGTTCCAGAGAGCCC	0.567000													94	139					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368892	26368892	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:26368892C>T	ENST00000356386.2	+	4	373	c.185C>T	c.(184-186)aCc>aTc	p.T62I	BTN3A2_ENST00000377708.2_Missense_Mutation_p.T62I|BTN3A2_ENST00000527422.1_Missense_Mutation_p.T62I|BTN3A2_ENST00000508906.2_Missense_Mutation_p.T20I|BTN3A2_ENST00000396934.3_Missense_Mutation_p.T39I|BTN3A2_ENST00000396948.1_Missense_Mutation_p.T62I|BTN3A2_ENST00000532994.1_Intron	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	62	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGTGCAGAGACCATGGAGCTG	0.567000													44	91					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221621	55221621	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55221621G>A	ENST00000413439.1	+	0	1401																											GACCCCCTGAGCATCCTGATC	0.667000													6	52					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267005	16267005	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:16267005C>T	ENST00000343518.6	-	9	1495	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	482										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGAATTAATCCATCATCACCA	0.428000													34	347					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138333848	138333848	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:138333848C>T	ENST00000421622.1	-	4	417	c.209G>A	c.(208-210)gGc>gAc	p.G70D	SVOPL_ENST00000436657.1_Missense_Mutation_p.G38D|SVOPL_ENST00000419765.3_Missense_Mutation_p.G190D|SVOPL_ENST00000288513.5_Missense_Mutation_p.G38D			Q8N434	SVOPL_HUMAN	SVOP-like	190						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGAGGCCAAGCCAATGATGAG	0.527000													19	37					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258679	86258679	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:86258679G>A	ENST00000263857.6	-	30	4730	c.4352C>T	c.(4351-4353)cCc>cTc	p.P1451L	POLR1A_ENST00000409681.1_Missense_Mutation_p.P1451L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1451					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCCCTGTGGGGATTTCGTtc	0.587000													23	52					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35647947	35647947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:35647947C>T	ENST00000287272.2	+	16	2541	c.2521C>T	c.(2521-2523)Cag>Tag	p.Q841*	UNC5D_ENST00000453357.2_Nonsense_Mutation_p.Q905*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.Q486*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.Q915*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.Q910*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.Q843*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	910					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCTCGTCATCAGCATGATGG	0.448000													40	78					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:113676334C>T	ENST00000263326.3	+	5	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_ENST00000311328.2_Missense_Mutation_p.S176L|IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L|IL37_ENST00000349806.3_Missense_Mutation_p.S141L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000													13	22					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047584	3047584	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:3047584C>T	ENST00000602557.1	-	35	5806	c.5251G>A	c.(5251-5253)Gga>Aga	p.G1751R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1750R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1750R|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1751R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1751R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1750R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1751R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1751	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCTCCTTCCGTATCTGGGC	0.557000													3	9					0	0	1	0	0
SELRC1	65260	broad.mit.edu	37	1	53153412	53153412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:53153412G>A	ENST00000371538.3	-	3	715	c.676C>T	c.(676-678)Caa>Taa	p.Q226*	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	226							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GTTAAGGGTTGGACACCTTTC	0.517000													32	18					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416552	187416552	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:187416552G>A	ENST00000358241.1	-	2	840	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	138					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ACGTGGATGCGGTACTGGCCA	0.647000													8	21					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189064991	189064991	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:189064991G>A	ENST00000332517.3	+	4	875		c.e4-1		TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1						multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTTACCCGTAGGAAGTGAGAG	0.463000													61	84					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161530837	161530837	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:161530837G>A	ENST00000392142.4	+	23	4435	c.4287G>A	c.(4285-4287)gaG>gaA	p.E1429E	MAP3K4_ENST00000366920.2_Silent_p.E1425E|MAP3K4_ENST00000366919.2_Silent_p.E1379E|MAP3K4_ENST00000348824.7_Silent_p.E1375E	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1429	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTTTAGAAGAGGTGTCAAGGC	0.473000													29	42					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588903	119588903	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:119588903G>A	ENST00000267260.4	+	10	1546	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	386	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCTCACCCATGAAAGGGTGTT	0.587000													23	37					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31144518	31144518	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:31144518G>A	ENST00000304166.4	+	15	1502	c.1213G>A	c.(1213-1215)Ggt>Agt	p.G405S	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G461S|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G433S|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G384S	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	405					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTTCTGAATGGTGAGGTAAG	0.527000													78	145					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658527	210658527	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:210658527C>T	ENST00000439458.1	+	7	962	c.882C>T	c.(880-882)tcC>tcT	p.S294S	UNC80_ENST00000272845.5_Silent_p.S294S|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	294						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAGGAAACTCCTTTGATGGAA	0.498000													10	51					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875229	33875229	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:33875229G>A	ENST00000374408.3	-	4	1449	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	451										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACTGGAGGAGGGGCCGGGAGC	0.647000													11	30					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71544351	71544351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:71544351G>A	ENST00000370920.3	-	2	398	c.97C>T	c.(97-99)Cga>Tga	p.R33*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R33*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	33					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCACATCGATTACAGCTG	0.259000													38	36					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361063	70361063	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:70361063G>A	ENST00000305107.6	-	1	563	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	UGT2B4_ENST00000381096.3_Missense_Mutation_p.R37C|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.R173C	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	173					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GGAGAGAAGCGGAGGCTGTAG	0.458000													19	23					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24429324	24429324	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:24429324C>T	ENST00000230036.1	-	25	2569	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	820						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGAACTCCTTCCAGCAGCAAT	0.493000													14	33					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037375	80037375	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:80037375G>A	ENST00000306749.2	-	42	7474	c.7256C>T	c.(7255-7257)gCg>gTg	p.A2419V	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2419	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACCGGGCCGCAAAGCTCAG	0.647000													24	51					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10279935	10279935	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:10279935G>A	ENST00000254976.2	+	7	638	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SNAP25_ENST00000304886.2_Missense_Mutation_p.E143K|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	143	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TGATGCCCGAGAAAATGAAAT	0.463000													36	120					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430406	135430406	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:135430406C>T	ENST00000394143.1	+	6	4832	c.4541C>T	c.(4540-4542)tCc>tTc	p.S1514F	GPR112_ENST00000394141.1_Missense_Mutation_p.S1309F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1451F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1309F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1514F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACCAGATGTCCTCATTGCCA	0.423000													42	14					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045272	142045272	+	RNA	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142045272A>T	ENST00000390392.3	+	0	21																											ACATCACAGGAAAAACCACCA	0.552000													10	28					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575385	33575385	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:33575385G>A	ENST00000262873.7	+	15	1391	c.1299G>A	c.(1297-1299)atG>atA	p.M433I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	391	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTACCTGATGGGGGTCAGCA	0.637000													22	70					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99037075	99037075	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:99037075C>T	ENST00000376586.2	+	7	924	c.588C>T	c.(586-588)atC>atT	p.I196I	FARP1_ENST00000319562.6_Silent_p.I196I|FARP1_ENST00000595437.1_Silent_p.I196I			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	196	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACAAAATCGTGGAATTTC	0.438000													22	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784584	82784584	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:82784584T>G	ENST00000423517.2	-	2	1710	c.1373A>C	c.(1372-1374)aAg>aCg	p.K458T	PCLO_ENST00000333891.8_Missense_Mutation_p.K458T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	409	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCAGAAGTCTTTCCGGGTCC	0.607000													38	53					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354500	220354500	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:220354500C>T	ENST00000312358.7	+	36	8892	c.8760C>T	c.(8758-8760)ccC>ccT	p.P2920P	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2920	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTGAGCCCCCTCCTGAGC	0.627000													71	16					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43042758	43042758	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:43042758C>T	ENST00000428554.2	+	14	2066	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CCDC30_ENST00000390640.4_Missense_Mutation_p.T97M|CCDC30_ENST00000340612.4_Missense_Mutation_p.T308M|CCDC30_ENST00000342022.4_Missense_Mutation_p.T308M|CCDC30_ENST00000507855.1_Missense_Mutation_p.T97M			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	308										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCTTCACTCACGGCAGAGTAC	0.388000													6	36					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732707	120732707	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:120732707C>T	ENST00000527524.2	+	9	1071	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	GRIK4_ENST00000527130.1_3'UTR|GRIK4_ENST00000438375.2_Missense_Mutation_p.R262C			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TGTGGATGATCGTGTCAACAT	0.483000													77	85					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977342	6977342	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6977342C>T	ENST00000278319.5	+	7	1722	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.S378S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	378					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CAATGAATTCCTATGAATGTT	0.373000													19	18					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524209	55524209	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:55524209C>T	ENST00000305377.5	+	1	745	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATCTCTTTATCCATAGAATGA	0.353000													18	26					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990202	21990202	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:21990202G>A	ENST00000317492.5	-	3	580	c.568C>T	c.(568-570)Cct>Tct	p.P190S	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000450879.2_Silent_p.L887L|SALL2_ENST00000538754.1_Missense_Mutation_p.P188S			Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	35							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GCTGAAATAGGAGGGGGGCTG	0.567000													6	8					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773380	101773380	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:101773380T>G	ENST00000334289.3	-	6	1107	c.512A>C	c.(511-513)cAc>cCc	p.H171P		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	171	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCCTTCTGGGTGAATTATGTA	0.353000													22	42					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095150	130095150	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:130095150C>T	ENST00000265379.6	+	3	632	c.138C>T	c.(136-138)ttC>ttT	p.F46F	COL6A5_ENST00000432398.2_Silent_p.F46F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	46	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTAAGTCATTCCCATTCGTGA	0.468000													12	24					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419842	30419842	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:30419842C>T	ENST00000375994.2	+	11	1886	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P538L|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	538	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCGCCCATCCCTGGCTCAAC	0.607000													5	4					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49994103	49994103	+	Silent	SNP	C	C	T	rs142574485	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:49994103C>T	ENST00000391857.4	+	5	400	c.324C>T	c.(322-324)atC>atT	p.I108I	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	108					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TTGACGGCATCCCACCGCCCT	0.577000													22	40					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698547	40698547	+	Silent	SNP	G	G	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:40698547G>T	ENST00000253055.3	+	1	897	c.609G>T	c.(607-609)gtG>gtT	p.V203V	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	203	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTGTGCAGGTGGCCCGGGGCA	0.602000													7	21					2.0095e-06	2.01605e-06	1	1	0
FOXN4	121643	broad.mit.edu	37	12	109717564	109717564	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:109717564G>A	ENST00000299162.5	-	10	1570	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	FOXN4_ENST00000355216.1_Missense_Mutation_p.S309F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	489					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GTCCGGAGTGGAGTACGCTGT	0.632000													5	3					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724153	112724153	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:112724153G>A	ENST00000501255.2	-	3	1247	c.624C>T	c.(622-624)ttC>ttT	p.F208F	GPR85_ENST00000297146.2_Silent_p.F208F|GPR85_ENST00000449591.1_Silent_p.F208F|GPR85_ENST00000424100.1_Silent_p.F208F	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GATCGTGGACGAAAAATATCA	0.498000													23	38					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931780	15931780	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:15931780G>A	ENST00000338282.6	-	2	436	c.330C>T	c.(328-330)ttC>ttT	p.F110F	MYH11_ENST00000576790.1_Silent_p.F110F|MYH11_ENST00000452625.2_Silent_p.F110F|MYH11_ENST00000396324.3_Silent_p.F110F|MYH11_ENST00000300036.5_Silent_p.F110F	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	110	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTAGCCCTGAGAAGTACCGCT	0.537000			T	CBFB	AML								13	48					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432347	20432347	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:20432347G>A	ENST00000377252.3	+	5	1505		c.e5+1		PLXDC2_ENST00000377242.3_Splice_Site|PLXDC2_ENST00000377238.2_Splice_Site	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTGATAATGGTATGTGTTGA	0.338000													17	29					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736227	56736227	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56736227C>T	ENST00000587340.1	-	4	884	c.189G>A	c.(187-189)agG>agA	p.R63R	ZSCAN5A_ENST00000592355.1_Silent_p.R63R|ZSCAN5A_ENST00000391713.1_Silent_p.R63R|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	63	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAGTGAGTTTCCTCAGAGCCT	0.542000													13	24					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231125	7231125	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7231125C>T	ENST00000379938.2	+	10	3330	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	RREB1_ENST00000334984.6_Silent_p.S931S|RREB1_ENST00000379933.3_Silent_p.S931S|RREB1_ENST00000349384.6_Silent_p.S931S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	931					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGACTGCTCCATGGAGCCCA	0.587000													10	25					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524576	37524576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:37524576G>A	ENST00000216223.5	-	10	1414	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	406					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGCAGGGGTTGGGGGGAAGAC	0.632000													34	51					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97093868	97093868	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:97093868G>A	ENST00000524981.3	+	13	1824	c.1824G>A	c.(1822-1824)atG>atA	p.M608I				Q6ZTY8	CL063_HUMAN		582										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGGAAAAATGAAGGTAACCT	0.353000													33	54					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330598	25330598	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:25330598C>T	ENST00000546682.1	+	0	453				SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						AAACTCTATACCGTCATCCTC	0.458000													67	106					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617395	77617395	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:77617395C>T	ENST00000521891.2	+	2	1520	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P358S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P358S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P358S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	358						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGACCCGATCCAACCTTCCG	0.453000										HNSCC(33;0.089)			28	41					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239192	170239192	+	Missense_Mutation	SNP	C	C	T	rs144038090	by1000genomes	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:170239192C>T	ENST00000518525.1	+	11	1717	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.S418F			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	418						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATCACTATTCCAAACTACTG	0.353000													19	12					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6746479	6746479	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:6746479A>T	ENST00000600428.1	+	10	1323	c.677A>T	c.(676-678)gAt>gTt	p.D226V	TRIP10_ENST00000313244.9_Missense_Mutation_p.D390V|TRIP10_ENST00000313285.8_Missense_Mutation_p.D334V|TRIP10_ENST00000596758.1_Missense_Mutation_p.D334V			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	344	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GTGACCGAGGATTTTAGCCAC	0.532000													9	35					0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124519595	124519595	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:124519595G>A	ENST00000263593.3	-	5	814	c.642C>T	c.(640-642)atC>atT	p.I214I	SIAE_ENST00000545756.1_Silent_p.I179I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	214						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		AGCTGGAGGCGATCAGCCCGA	0.527000													45	89					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660064	113660064	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:113660064G>A	ENST00000393544.2	+	0	112																											AGGGGCTGAGGGGACCAAGCT	0.592000													14	42					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320946	52320946	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:52320946G>A	ENST00000356297.4	-	17	3338	c.3238C>T	c.(3238-3240)Ccg>Tcg	p.P1080S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P1080S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1080					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTATGGAACGGAAGGTGGCCT	0.498000													22	24					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517316	158517316	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158517316A>C	ENST00000302617.3	-	1	579	c.580T>G	c.(580-582)Tgt>Ggt	p.C194G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCATCCTCACAGGAGACGTTA	0.463000													11	31					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473780	31473780	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:31473780C>T	ENST00000457010.2	+	3	1613	c.912C>T	c.(910-912)atC>atT	p.I304I	ARMC5_ENST00000563544.1_Silent_p.I304I|ARMC5_ENST00000268314.4_Silent_p.I304I|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Silent_p.I336I|ARMC5_ENST00000408912.3_Silent_p.I399I	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	304							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCATTCTGATCCTCGCCAACC	0.652000													23	14					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140362115	140362115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140362115C>T	ENST00000532602.1	+	3	3542	c.2509C>T	c.(2509-2511)Cag>Tag	p.Q837*	PCDHAC1_ENST00000253807.2_Nonsense_Mutation_p.Q850*|PCDHA12_ENST00000398631.2_Nonsense_Mutation_p.Q828*|PCDHA2_ENST00000526136.1_Nonsense_Mutation_p.Q835*|PCDHA6_ENST00000527624.1_Nonsense_Mutation_p.Q573*|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.Q572*|PCDHA7_ENST00000525929.1_Nonsense_Mutation_p.Q824*|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.Q823*|PCDHA10_ENST00000307360.5_Nonsense_Mutation_p.Q835*|PCDHA1_ENST00000504120.2_Nonsense_Mutation_p.Q837*|PCDHA3_ENST00000522353.2_Nonsense_Mutation_p.Q837*|PCDHA11_ENST00000398640.2_Nonsense_Mutation_p.Q836*|PCDHA1_ENST00000394633.3_Nonsense_Mutation_p.Q573*|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.Q837*|PCDHA6_ENST00000529310.1_Nonsense_Mutation_p.Q837*|PCDHA8_ENST00000531613.1_Nonsense_Mutation_p.Q837*|PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.Q834*|PCDHA5_ENST00000529859.1_Nonsense_Mutation_p.Q823*|PCDHAC2_ENST00000289269.5_Nonsense_Mutation_p.Q894*|PCDHA4_ENST00000530339.1_Nonsense_Mutation_p.Q834*|PCDHA13_ENST00000289272.2_Nonsense_Mutation_p.Q837*	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGCCTGATCAGCAGTGGCC	0.483000													9	34					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138375965	138375965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:138375965G>A	ENST00000409968.1	+	19	3747	c.3569G>A	c.(3568-3570)tGg>tAg	p.W1190*	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1193*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1162*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTAGAGTGGAGCACATGC	0.498000													5	21					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42533069	42533069	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:42533069C>T	ENST00000282030.5	+	4	4060	c.3764C>T	c.(3763-3765)cCt>cTt	p.P1255L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1255						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCAGTGAGCCTGTGGACTCA	0.517000									Schinzel-Giedion syndrome				20	16					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119145743	119145743	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:119145743A>G	ENST00000296499.5	+	7	2040	c.1637A>G	c.(1636-1638)aAc>aGc	p.N546S	NDST3_ENST00000433996.2_Missense_Mutation_p.N465S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	546	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.N546S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGCTGGACCAACCTGCGACTT	0.433000													12	57					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289622	46289622	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:46289622G>A	ENST00000270223.6	-	3	1177	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S	DMWD_ENST00000377735.3_Missense_Mutation_p.P378S	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	378				P -> SL (in Ref. 2; AAA35767).	meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGGTGTAGGGGTCAAAGGCC	0.677000													30	50					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21459918	21459918	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:21459918C>T	ENST00000307378.6	-	6	1060	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E114K|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E112K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	114					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GATTCATATTCATATCTGTAT	0.378000													14	14					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407454	9407454	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9407454G>A	ENST00000591998.1	-	6	854	c.626C>T	c.(625-627)tCc>tTc	p.S209F	ZNF699_ENST00000308650.3_Missense_Mutation_p.S209F			Q32M78	ZN699_HUMAN	zinc finger protein 699	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTCTTAAGGGATGAATGATC	0.423000													42	86					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962837	73962837	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73962837C>T	ENST00000373468.1	-	3	2206	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D519N			Q5QGS0	K2022_HUMAN	KIAA2022	519					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCATCATCTTCCTCTTTG	0.383000													18	6					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510673	5510673	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5510673C>T	ENST00000322641.5	+	1	759	c.737C>T	c.(736-738)tCc>tTc	p.S246F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGTGGCTCCCACATTGGC	0.493000													56	53					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101447377	101447377	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:101447377C>T	ENST00000554693.2	+	0	635				SNORD114-20_ENST00000365178.1_RNA																							TATGAGTCATCTACAGTGAAT	0.393000													46	81					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871482	8871482	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:8871482G>A	ENST00000256707.3	-	30	4865	c.4684C>T	c.(4684-4686)Ccg>Tcg	p.P1562S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1543S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1463S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1543S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1562					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTCTGATCGGCTCAGCACTG	0.448000													29	88					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86499593	86499593	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:86499593T>C	ENST00000370571.2	-	13	2330	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	COL24A1_ENST00000436319.1_Missense_Mutation_p.D655G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	655					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTCTCCAAAGTCACCTGGAAA	0.383000													3	16					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11236928	11236928	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:11236928C>T	ENST00000304623.8	-	10	1825	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G546R|CTNND2_ENST00000458100.2_Missense_Mutation_p.G113R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G455R|CTNND2_ENST00000503622.1_Missense_Mutation_p.G209R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	546					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTCTCCATCCAAATTCTCTG	0.478000													40	75					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504407	64504407	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:64504407C>T	ENST00000377494.1	-	8	1835	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	RASGRP2_ENST00000354024.3_Missense_Mutation_p.G305S|RASGRP2_ENST00000377497.3_Missense_Mutation_p.G305S|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G305S			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	305	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGTGCACACCCAGGATCGGG	0.652000													7	24					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027727	87027727	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:87027727G>A	ENST00000398399.2	-	2	715	c.352C>T	c.(352-354)Cca>Tca	p.P118S	VGLL3_ENST00000383698.3_Missense_Mutation_p.P118S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCAGATTCTGGATGGAGGGTG	0.478000													50	90					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967724	2967724	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:2967724G>A	ENST00000602557.1	-	44	7122	c.6567C>T	c.(6565-6567)ttC>ttT	p.F2189F	CSMD1_ENST00000537824.1_Silent_p.F2188F|CSMD1_ENST00000542608.1_Silent_p.F2188F|CSMD1_ENST00000520002.1_Silent_p.F2189F|CSMD1_ENST00000400186.3_Silent_p.F2189F|CSMD1_ENST00000602723.1_Silent_p.F2189F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2189	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAACAGGGTGAAGTTGATGT	0.458000													12	12					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175907	79175907	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:79175907G>A	ENST00000554719.1	+	4	941	c.450G>A	c.(448-450)atG>atA	p.M150I	NRXN3_ENST00000335750.5_Missense_Mutation_p.M150I|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	154	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCTTGACATGGGCTCTGGCA	0.502000													58	77					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107533	42107533	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:42107533C>T	ENST00000457542.2	+	11	1533	c.1247C>T	c.(1246-1248)aCc>aTc	p.T416I	MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T416I|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T299I|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.T422I	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	422								p.T416N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGACAACACCATCCGCCTG	0.602000													13	41					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812401	144812401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:144812401G>A	ENST00000388913.3	-	2	477	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	118					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCGGTGCCCTGGAAGCCGAAG	0.642000													10	32					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52537369	52537369	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:52537369C>T	ENST00000321725.6	+	8	780	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	235	EGF-like 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCCAACCCCTGCTGGCCA	0.662000													9	13					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10188298	10188298	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:10188298C>T	ENST00000535335.1	+	3	999	c.783C>T	c.(781-783)gtC>gtT	p.V261V	KLF11_ENST00000305883.1_Silent_p.V278V|KLF11_ENST00000540845.1_Silent_p.V261V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	278					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGATTTCTGTCTCTGTCCCTG	0.527000													41	38					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134164356	134164356	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:134164356C>T	ENST00000452510.2	+	23	3217	c.3059C>T	c.(3058-3060)tCa>tTa	p.S1020L	DDX46_ENST00000354283.4_Missense_Mutation_p.S1019L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	1019					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCAAAATTCATACCAACCA	0.333000													11	19					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713348	40713348	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:40713348C>T	ENST00000373198.3	-	30	4411	c.4176G>A	c.(4174-4176)agG>agA	p.R1392R	PTPRT_ENST00000373190.1_Silent_p.R1369R|PTPRT_ENST00000373193.3_Silent_p.R1373R|PTPRT_ENST00000373201.1_Silent_p.R1360R|PTPRT_ENST00000373187.1_Silent_p.R1370R|PTPRT_ENST00000356100.2_Silent_p.R1379R|PTPRT_ENST00000373184.1_Silent_p.R1380R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1370	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1392S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACGTCCCTCCCTCCCGTCAT	0.607000													8	15					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812067	158812067	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158812067G>A	ENST00000368141.4	+	2	385	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	42	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AATGCAAGAGGAATACAACAG	0.348000													25	53					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920862	247920862	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247920862G>A	ENST00000408896.2	-	1	1120	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCAGCATCGGAGCCACCATT	0.473000													13	86					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169576207	169576207	+	Missense_Mutation	SNP	G	G	A	rs6130	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:169576207G>A	ENST00000263686.6	-	9	1536	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F	SELP_ENST00000367793.2_Missense_Mutation_p.S438F|SELP_ENST00000458599.2_Missense_Mutation_p.S438F|SELP_ENST00000367786.2_Missense_Mutation_p.S438F|SELP_ENST00000367788.2_Missense_Mutation_p.S438F|SELP_ENST00000367791.2_Missense_Mutation_p.S376F|SELP_ENST00000367792.2_Missense_Mutation_p.S438F|SELP_ENST00000367794.2_Missense_Mutation_p.S438F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	500	Sushi 5.		S -> F (in dbSNP:rs6130).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGGAGGAACAGAATTCCAGTT	0.443000													8	41					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115989	145115989	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:145115989G>A	ENST00000453618.1	+	0	1075							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AATCCAAGTGGAACTTCTGCC	0.388000													6	51					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4859292	4859292	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:4859292C>T	ENST00000323997.6	+	9	1053	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ENO3_ENST00000518175.1_Silent_p.F307F|ENO3_ENST00000519584.1_Silent_p.F264F	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	307					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGACCTCCTTCCTCTCGGGGG	0.577000													44	106					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51729392	51729392	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:51729392C>T	ENST00000583046.1	-	3	840	c.783G>A	c.(781-783)ttG>ttA	p.L261L	MBD2_ENST00000398398.2_3'UTR|MBD2_ENST00000256429.3_Intron	NM_015832.4	NP_056647.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	0					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	aagcacattccaagcagagca	0.527000													22	82					0	0	1	0	0
LINC00521	256369	broad.mit.edu	37	14	94464404	94464404	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:94464404C>T	ENST00000444118.1	+	0	84					NR_024182.1																						TGTGACTGTCCCTTTTCGGTC	0.567000													8	12					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266996	16266996	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:16266996G>A	ENST00000343518.6	-	9	1504	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	485										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCCTTGGTGGAATTAATCCA	0.438000													18	317					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606785	55606785	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55606785G>A	ENST00000378396.1	+	1	558	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TATCCTCCCTGATATCACTCT	0.418000													28	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070709	9070709	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9070709G>A	ENST00000397910.4	-	3	16940	c.16737C>T	c.(16735-16737)atC>atT	p.I5579I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5581	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGGGAAGGATACCCTGTG	0.507000													75	137					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569692	73569692	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:73569692G>A	ENST00000392550.3	+	21	2973	c.2856G>A	c.(2854-2856)aaG>aaA	p.K952K	LLGL2_ENST00000167462.5_Silent_p.K952K|LLGL2_ENST00000577200.1_Silent_p.K952K	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	952					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGGCCCCAAGAAGGCCCCGA	0.662000													17	28					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51799060	51799060	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:51799060A>C	ENST00000371117.3	-	37	6244	c.5969T>G	c.(5968-5970)gTt>gGt	p.V1990G	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1990G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1990	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCATCAGAAACAAGGATGGC	0.532000											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	57					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006851	34006851	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:34006851G>A	ENST00000373381.4	-	59	9512	c.9336C>T	c.(9334-9336)ttC>ttT	p.F3112F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3086	Sushi 24.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTGTACCTGAAGTCATTGC	0.488000													39	32					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168549	171168549	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:171168549G>A	ENST00000441535.1	+	5	666	c.549G>A	c.(547-549)gaG>gaA	p.E183E	FMO2_ENST00000209929.7_Silent_p.E183E|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	183					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGATTTGAGGGAAAACGCA	0.478000													31	78					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105847415	105847415	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:105847415C>T	ENST00000447393.1	+	12	1422	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	PACS2_ENST00000430725.2_Missense_Mutation_p.S341F|PACS2_ENST00000325438.8_Missense_Mutation_p.S416F|PACS2_ENST00000547217.1_Missense_Mutation_p.S386F|PACS2_ENST00000458164.2_Missense_Mutation_p.S416F	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	416					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AAGACAGAGTCCCTTGTCATC	0.697000													8	23					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250775	142250775	+	RNA	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142250775T>C	ENST00000390360.3	-	0	292																											GGGGAAATCATCTGTGTTTGC	0.512000													43	59					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48682525	48682525	+	Missense_Mutation	SNP	G	G	A	rs145413655	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:48682525G>A	ENST00000544264.1	-	26	8210	c.7930C>T	c.(7930-7932)Cgc>Tgc	p.R2644C	CELSR3_ENST00000164024.4_Missense_Mutation_p.R2639C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2639					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCGCCGCGGTCCACGTTG	0.647000													12	17					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656088	12656088	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:12656088G>A	ENST00000425538.1	+	10	1683	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	MYOCD_ENST00000395988.1_Missense_Mutation_p.E399K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E495K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	495	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTGCACGGAGGAAAGTCTCAT	0.602000													16	24					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41572511	41572511	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:41572511G>A	ENST00000396942.1	-	15	1767	c.1684C>T	c.(1684-1686)Ccg>Tcg	p.P562S	ANK1_ENST00000396945.1_Missense_Mutation_p.P562S|ANK1_ENST00000352337.4_Missense_Mutation_p.P562S|ANK1_ENST00000265709.8_Missense_Mutation_p.P595S|ANK1_ENST00000289734.7_Missense_Mutation_p.P562S|ANK1_ENST00000347528.4_Missense_Mutation_p.P562S|ANK1_ENST00000379758.2_Missense_Mutation_p.P562S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	562	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCATTCGGGTGTGCGTCC	0.582000													32	40					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735767	55735767	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55735767G>A	ENST00000312345.2	-	1	223	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCAAAAGGGAAAAATTGCT	0.348000													16	65					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21534731	21534731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:21534731G>A	ENST00000425654.2	+	9	1419	c.939G>A	c.(937-939)tgG>tgA	p.W313*	CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.W313*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.W313*	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	313					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATATGAGATGGAAGCCCCTTG	0.413000													24	9					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130792711	130792711	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:130792711G>A	ENST00000325390.3	-	0	2617					NR_026758.1																						CCACACCTGTGAACTGCAGCA	0.443000													11	16					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591165	55591165	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55591165C>T	ENST00000373965.2	-	31	4527	c.4133G>A	c.(4132-4134)gGa>gAa	p.G1378E	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1378E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1371E|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1371E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1349E|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1371E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1371E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1300E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1334E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G982E|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1376E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1371					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTGTGTATCCTAGACTTTC	0.483000										HNSCC(58;0.16)			20	49					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954521	70954521	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:70954521C>T	ENST00000334414.6	-	17	4406	c.4362G>A	c.(4360-4362)agG>agA	p.R1454R	PTPRB_ENST00000550358.1_Silent_p.R1366R|PTPRB_ENST00000451516.2_Silent_p.R1146R|PTPRB_ENST00000550857.1_Silent_p.R1146R|PTPRB_ENST00000261266.5_Silent_p.R1236R|PTPRB_ENST00000551525.1_Silent_p.R1453R|PTPRB_ENST00000538708.1_Silent_p.R1146R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1236	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCACGTACTTCCTTCCAGGAA	0.502000													18	35					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740150	176740150	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:176740150C>T	ENST00000367662.3	+	17	5713	c.4549C>T	c.(4549-4551)Cct>Tct	p.P1517S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1517	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGTCTCTCCCTGAAGTCTA	0.527000													27	50					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725389	4725389	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:4725389C>T	ENST00000354582.6	+	28	3755	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	ITPR1_ENST00000443694.2_Silent_p.I1120I|ITPR1_ENST00000423119.2_Silent_p.I1126I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.I1126I|ITPR1_ENST00000302640.8_Silent_p.I1120I|ITPR1_ENST00000456211.2_Silent_p.I1111I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1135					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGAGGTCCATCGTGGAAAAGT	0.468000													41	60					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414665	17414665	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:17414665T>G	ENST00000302539.4	-	39	4747	c.4622A>C	c.(4621-4623)cAc>cCc	p.H1541P	ABCC8_ENST00000389817.3_Missense_Mutation_p.H1540P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1540	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGGATGGTGTGCACTCGATG	0.642000													12	29					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198700854	198700854	+	Splice_Site	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:198700854A>G	ENST00000367376.2	+	18	2138	c.1968_splice	c.e18+1	p.Q656_splice	PTPRC_ENST00000352140.3_Splice_Site_p.Q608_splice|PTPRC_ENST00000594404.1_Splice_Site_p.Q495_splice|PTPRC_ENST00000348564.6_Splice_Site_p.Q497_splice|PTPRC_ENST00000442510.2_Splice_Site_p.Q658_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	656	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGAATTTCAGGTGTGTGTT	0.343000													4	79					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133438100	133438100	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:133438100G>A	ENST00000266880.7	-	7	803	c.740C>T	c.(739-741)cCc>cTc	p.P247L	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.P235L|CHFR_ENST00000432561.2_Missense_Mutation_p.P247L|CHFR_ENST00000443047.2_Missense_Mutation_p.P155L|CHFR_ENST00000315585.7_Missense_Mutation_p.P206L			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	247					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTGATCCTGGGGTTCCAACGA	0.537000													26	75					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050753	84050753	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:84050753G>A	ENST00000299709.3	-	7	944	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	315					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTCCCCAGGAAGAGCACGA	0.567000													17	22					0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114278251	114278251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:114278251C>T	ENST00000540163.1	+	5	1165	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	RBM7_ENST00000375490.5_Nonsense_Mutation_p.Q176*|RBM7_ENST00000545678.1_Nonsense_Mutation_p.Q55*|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	175					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		ACCATCAGTTCAATCACACAG	0.413000													31	47					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172411041	172411041	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:172411041C>T	ENST00000321348.4	+	4	763	c.565C>T	c.(565-567)Cct>Tct	p.P189S	CYBRD1_ENST00000409484.1_Missense_Mutation_p.P131S|CYBRD1_ENST00000375252.3_Missense_Mutation_p.S119F	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	189	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TAGGAGAGATCCTGCATACAG	0.423000													9	18					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045212	35045212	+	Silent	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:35045212A>G	ENST00000290374.4	-	2	909	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	145					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCATTTTGCAACTTCTTATCT	0.537000													97	52					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79095400	79095400	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:79095400C>T	ENST00000446378.2	+	13	12202	c.12171C>T	c.(12169-12171)caC>caT	p.H4057H	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4057	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTACTTTGCACCTGGGGATAG	0.502000													5	20					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89093343	89093343	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:89093343C>T	ENST00000554922.1	-	35	4827	c.4579G>A	c.(4579-4581)Gca>Aca	p.A1527T	EML5_ENST00000380664.5_Missense_Mutation_p.A1519T|EML5_ENST00000352093.5_Missense_Mutation_p.A1481T	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1519						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGAATTCTGCCACAAAAATA	0.418000													34	110					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041520	90041520	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:90041520C>T	ENST00000405460.2	+	52	10978	c.10882C>T	c.(10882-10884)Ccc>Tcc	p.P3628S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3628					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTTAAAAATCCCAAAGGAGG	0.358000													17	28					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005214	25005214	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:25005214G>A	ENST00000382114.4	-	8	1682	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	499						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TAAACTTTTTGAATAGCTGCT	0.438000													11	48					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53573714	53573714	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:53573714T>C	ENST00000342160.3	-	68	11166	c.10709A>G	c.(10708-10710)aAg>aGg	p.K3570R	HUWE1_ENST00000262854.6_Missense_Mutation_p.K3570R|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3570					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGACACCATCTTAAAGTCTGT	0.483000													12	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776715	13776715	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:13776715T>C	ENST00000265104.4	-	55	9310	c.9206A>G	c.(9205-9207)aAc>aGc	p.N3069S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3069	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCGTGCAGGTTCTCATTGGT	0.453000									Kartagener syndrome				27	65					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000													23	30					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813853	108813853	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:108813853C>T	ENST00000232603.5	-	7	568	c.486G>A	c.(484-486)caG>caA	p.Q162Q	MORC1_ENST00000483760.1_Silent_p.Q162Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	162					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGCAAATTTCTGGGGATCAT	0.323000													10	30					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884919	12884919	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:12884919G>A	ENST00000535591.1	-	4	1387	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	398										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTTCATCAGCTCAGCCCTA	0.498000													46	208					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38603913	38603913	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38603913C>T	ENST00000413689.1	-	22	4149	c.3956G>A	c.(3955-3957)gGc>gAc	p.G1319D	SCN5A_ENST00000455624.2_Missense_Mutation_p.G1318D|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1265D|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1265D|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1265D|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1319D|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1318D|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1319D|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1318D|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1319D	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1319			G -> V (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TACCCTCATGCCCTCAAATCG	0.642000													8	7					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263168	55263168	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55263168C>T	ENST00000342376.3	+	6	814	c.783C>T	c.(781-783)ctC>ctT	p.L261L	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3									p.L261L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcctcttctttctcc	0.512000													10	2					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75277832	75277832	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:75277832C>T	ENST00000524558.1	+	2	1873	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SERPINH1_ENST00000533603.1_Silent_p.F146F|SERPINH1_ENST00000530284.1_Silent_p.F146F|SERPINH1_ENST00000358171.3_Silent_p.F146F			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	146					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CTGATGACTTCGTGCGCAGCA	0.622000													12	30					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906044	12906044	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:12906044C>T	ENST00000380659.3	+	3	2556	c.2417C>T	c.(2416-2418)cCt>cTt	p.P806L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	806					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTGACTATTCCTTACCTGGCC	0.483000													35	10					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20355393	20355393	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:20355393G>A	ENST00000396134.2	-	7	1506	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	UMOD_ENST00000396138.4_Silent_p.P477P|UMOD_ENST00000424589.1_Silent_p.P461P|UMOD_ENST00000302509.4_Silent_p.P428P|UMOD_ENST00000396142.2_Silent_p.P428P|UMOD_ENST00000570689.1_Silent_p.P428P	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	428	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATGTCCAGGGGGTAGGAGC	0.537000													26	24					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240078470	240078470	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:240078470C>T	ENST00000345617.3	-	7	1403		c.e7-1		HDAC4_ENST00000541256.1_Splice_Site	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4						B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTGCGTTTTCCTGGAGAGAAG	0.547000													28	13					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38181485	38181485	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38181485C>T	ENST00000417037.2	+	2	682	c.498C>T	c.(496-498)ccC>ccT	p.P166P	MYD88_ENST00000443433.2_Silent_p.P166P|MYD88_ENST00000424893.1_Intron|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Silent_p.P166P	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	153	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGATGACCCCCTGGGTAAGG	0.562000			Mis		ABC-DLBCL								6	14					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41049411	41049411	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:41049411G>A	ENST00000399564.4	-	14	1922	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S46L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAGTGCTGTCGACTCCTTGGC	0.463000													11	20					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64219504	64219504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64219504G>A	ENST00000410046.3	+	4	1209	c.929G>A	c.(928-930)tGg>tAg	p.W310*	ZNF365_ENST00000395255.3_Nonsense_Mutation_p.W310*	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTTCAGAGCTGGAAAGGTGCT	0.502000													3	5					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353881	113353881	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:113353881T>A	ENST00000297405.5	-	42	6721	c.6477A>T	c.(6475-6477)gaA>gaT	p.E2159D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E2089D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2055D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2119D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2159	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGTATGGTTTCTGTAGAAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	21					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38153790	38153790	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:38153790T>C	ENST00000264639.4	+	12	1735	c.1561T>C	c.(1561-1563)Ttt>Ctt	p.F521L	PSMD3_ENST00000541736.1_3'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	521					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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GGACTTGGAGTTTGCCAAGGA	0.607000													26	42					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823075	12823075	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:12823075G>A	ENST00000379672.5	+	6	691	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E131K|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E131K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	131	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACCACAGGTGGAAATCCCAAA	0.418000													5	16					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779856	18779856	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:18779856C>T	ENST00000300976.4	+	3	1739	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	550										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCGGCCAGTCAGAGGCCGGC	0.627000													23	48					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74116200	74116200	+	Silent	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:74116200A>G	ENST00000370336.4	+	7	1079	c.921A>G	c.(919-921)caA>caG	p.Q307Q	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	307	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGGTCCTTCAACCCAGGTAAG	0.353000													10	31					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48254252	48254252	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:48254252C>T	ENST00000246802.5	+	4	524	c.486C>T	c.(484-486)ccC>ccT	p.P162P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	162				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GCGAGCTGCCCCGGGAGGTGC	0.687000													8	8					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	436312	436312	+	Splice_Site	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:436312A>G	ENST00000280886.6	-	12	1473	c.1384_splice	c.e12-1	p.G462_splice	DIP2C_ENST00000381496.3_Splice_Site_p.G355_splice	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	462						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTTTGGCCAACCTTGGAAAT	0.433000													21	46					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21098779	21098779	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:21098779G>A	ENST00000377122.4	-	25	2963	c.2567C>T	c.(2566-2568)cCc>cTc	p.P856L	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	856	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTCTTCCAGGGGATCAAGGTC	0.408000													27	57					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396368	122396368	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:122396368C>T	ENST00000288912.4	+	12	2775	c.1921C>T	c.(1921-1923)Ctt>Ttt	p.L641F	WDR66_ENST00000397454.2_Missense_Mutation_p.L641F	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	641							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAACAATATCTTTTCAGCAG	0.468000													106	204					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188261	84188261	+	Silent	SNP	C	C	T	rs143312655	byFrequency	TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:84188261C>T	ENST00000378553.5	+	4	556	c.432C>T	c.(430-432)atC>atT	p.I144I	DNAAF1_ENST00000334315.5_Silent_p.I144I	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	144					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TACAGAAAATCGAAAACCTGG	0.478000													26	19					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575778	52575778	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:52575778G>A	ENST00000395489.2	-	11	1504	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.P322S|A1CF_ENST00000282641.2_Missense_Mutation_p.P377S|A1CF_ENST00000373997.3_Missense_Mutation_p.P377S|A1CF_ENST00000374001.1_Missense_Mutation_p.P377S|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000373993.1_Missense_Mutation_p.P377S|A1CF_ENST00000373995.3_Missense_Mutation_p.P385S	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	377	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTAACAGAAGGGGCTCGGATA	0.468000													30	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179532365	179532365	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179532365C>T	ENST00000589042.1	-	160	35853	c.35629_splice	c.e160+1	p.V11877_splice	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10010	Glu-rich.|Pro-rich.						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)			TGTTATATACCTTTTGCTAGT	0.303000													19	66					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539287	56539287	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56539287C>T	ENST00000390649.3	+	7	1688	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	563	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGCTCCGTGCTCTGTTTCAC	0.542000													10	16					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54013896	54013896	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54013896C>T	ENST00000514921.1	+	5	2340	c.2227C>T	c.(2227-2229)Cct>Tct	p.P743S	MLIP_ENST00000274897.5_Missense_Mutation_p.P219S|MLIP_ENST00000502396.1_Missense_Mutation_p.P754S|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	219						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGCAGCAATCCCTACAAACAC	0.343000													11	39					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39080712	39080712	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:39080712G>A	ENST00000379907.4	+	14	1607	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	ADAM32_ENST00000437682.2_Missense_Mutation_p.D395N|ADAM32_ENST00000519315.1_Missense_Mutation_p.D388N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	494	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTATGACGGAGACTGCCATGA	0.348000													4	7					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185964010	185964010	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:185964010T>C	ENST00000271588.4	+	24	3798	c.3569T>C	c.(3568-3570)aTt>aCt	p.I1190T	HMCN1_ENST00000367492.2_Missense_Mutation_p.I1190T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1190	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTGGATATTCCATGTAAT	0.428000													12	74					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004608	18004608	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:18004608G>A	ENST00000222248.3	+	15	2201	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	618					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGGGCAGAAGGAGCTGGAGG	0.597000													6	7					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7060073	7060073	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:7060073G>A	ENST00000299481.4	+	2	602	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	86	DAPIN.		D -> V (associated with spermatogenic failure).		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAACCTGAAGGATCTGTGTGA	0.502000													13	16					0	0	1	0	0
GREM1	26585	broad.mit.edu	37	15	33023231	33023231	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:33023231A>C	ENST00000300177.4	+	2	529	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	GREM1_ENST00000560830.1_Missense_Mutation_p.I73L|GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Missense_Mutation_p.I73L	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	114	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TCGCACCATCATCAACCGCTT	0.552000													26	21					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353851	172353851	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:172353851A>T	ENST00000475381.1	-	4	697	c.464T>A	c.(463-465)tTt>tAt	p.F155Y	NCEH1_ENST00000538775.1_Missense_Mutation_p.F195Y|NCEH1_ENST00000273512.3_Missense_Mutation_p.F187Y|NCEH1_ENST00000543711.1_Missense_Mutation_p.F22Y			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	155					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTGCTCAGGAAAATAAACCTT	0.368000													39	57					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948748	198948748	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:198948748G>A	ENST00000428675.1	+	2	905	c.507G>A	c.(505-507)ggG>ggA	p.G169G	PLCL1_ENST00000437704.2_Silent_p.G71G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	169	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAGACTGGGGAAAAACACGG	0.468000													34	41					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50120753	50120753	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:50120753G>A	ENST00000281631.5	+	18	2030	c.1872G>A	c.(1870-1872)ctG>ctA	p.L624L	PARP8_ENST00000505554.1_Silent_p.L603L|PARP8_ENST00000514342.2_Silent_p.L335L|PARP8_ENST00000503750.2_Silent_p.L582L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.L624L|PARP8_ENST00000514067.2_Silent_p.L582L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	624	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CACCATATCTGGAAATCAAGA	0.338000													32	43					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672751	62672751	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:62672751G>A	ENST00000498273.1	+	3	746	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	151										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						caacactaacgaatacaatag	0.328000													16	13					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69032452	69032452	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:69032452C>A	ENST00000288368.4	+	29	3803	c.3526C>A	c.(3526-3528)Cta>Ata	p.L1176I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1176					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TACCAATCTCCTAAAAGGGCA	0.373000													16	34					4.7546e-09	4.7818e-09	1	1	0
CCDC106	29903	broad.mit.edu	37	19	56163842	56163842	+	Silent	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56163842C>G	ENST00000586790.1	+	5	1477	c.573C>G	c.(571-573)ggC>ggG	p.G191G	CCDC106_ENST00000588740.1_Silent_p.G191G|CCDC106_ENST00000591578.1_Silent_p.G191G|CCDC106_ENST00000308964.3_Silent_p.G191G|CCDC106_ENST00000591241.1_Silent_p.G156G			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	191						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGATCCTGGGCACCTTCCAGA	0.647000													16	20					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106761806	106761806	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:106761806G>A	ENST00000283148.7	-	6	409	c.312C>T	c.(310-312)ttC>ttT	p.F104F	UXS1_ENST00000540130.1_Silent_p.F42F|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000409501.3_Silent_p.F99F|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	99					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GGGAGCCCACGAACCCTGCGC	0.552000													3	21					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837346	81837346	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:81837346C>T	ENST00000555447.1	-	5	969	c.557G>A	c.(556-558)gGg>gAg	p.G186E	STON2_ENST00000267540.2_Missense_Mutation_p.G186E	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	186					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAGTCAGCCCCAGAAGCCTG	0.488000													37	67					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724597	45724597	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:45724597C>T	ENST00000297323.7	+	12	2025	c.2003C>T	c.(2002-2004)aCg>aTg	p.T668M		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	668					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGGTGCCTGACGATTCAGATT	0.433000													57	112					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248224664G>A	ENST00000359959.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468000													84	86					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304275	3304275	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3304275C>T	ENST00000219596.1	-	2	832	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	265					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTGTCTTTTCCTCTAGAGTC	0.577000													46	135					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123615810	123615810	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:123615810T>A	ENST00000422452.2	-	22	3784	c.3721A>T	c.(3721-3723)Agt>Tgt	p.S1241C	TENM1_ENST00000371130.3_Missense_Mutation_p.S1234C|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGAGCAGGACTTGTGCTAAGG	0.393000													34	7					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915744	31915744	+	Silent	SNP	C	C	T	rs113410938		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:31915744C>T	ENST00000556679.1	+	18	2344	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000456570.1_Silent_p.I763I|CFB_ENST00000477310.1_Silent_p.I612I|CFB_ENST00000425368.2_Silent_p.I261I			P00751	CFAB_HUMAN	complement factor B	261					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCGGAAGATCGTCCTGGACC	0.542000													41	60					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114553	186114553	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:186114553C>T	ENST00000271588.4	+	92	14514	c.14285C>T	c.(14284-14286)cCt>cTt	p.P4762L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4762L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4762	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTGGAGTCCTTGGAGTGGC	0.502000													22	69					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216738	71216738	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:71216738G>A	ENST00000554752.2	-	4	1061	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	MAP3K9_ENST00000553414.1_Silent_p.G48G|MAP3K9_ENST00000554146.1_Silent_p.G91G|MAP3K9_ENST00000381250.4_Silent_p.G354G|MAP3K9_ENST00000555993.2_Silent_p.G354G			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	354	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGACTGCTAAGCCATCAATGC	0.493000													39	57					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103214589	103214589	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:103214589G>A	ENST00000428762.1	-	30	4620	c.4461C>T	c.(4459-4461)ggC>ggT	p.G1487G	RELN_ENST00000343529.5_Silent_p.G1487G|RELN_ENST00000424685.2_Silent_p.G1487G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1487					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTTCCCAGGGCCATTGAAGT	0.468000													59	63					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75740650	75740650	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:75740650G>A	ENST00000370855.5	-	6	366	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P85S|SLC44A5_ENST00000535611.1_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	85						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTCATTGGGAGTGCCCTTC	0.473000													7	14					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423883	47423883	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:47423883G>C	ENST00000361866.3	+	35	3157	c.3043G>C	c.(3043-3045)Ggt>Cgt	p.G1015R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	1015	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCTGCTCCGCGGTGTCTTCCA	0.672000													35	94					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766782	111766782	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:111766782C>T	ENST00000452346.2	+	7	930	c.927C>T	c.(925-927)tcC>tcT	p.S309S	TMPRSS7_ENST00000419127.1_Silent_p.S183S			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	309	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTACGACTCCCTTTTGCCCA	0.473000													22	39					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794251	21794251	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:21794251G>A	ENST00000206660.6	+	16	2629	c.2629G>A	c.(2629-2631)Gat>Aat	p.D877N	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D877N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D839N|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D236N			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	877	C2.				response to stimulus|visual perception	cilium		p.D493Y(1)|p.D877Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTTTTGATGATGAAGACTT	0.483000													13	25					0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17398530	17398530	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:17398530C>T	ENST00000225688.3	-	2	966	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	252					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						TACGCTGGGCCGGCGCGCGAA	0.711000													13	11					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865528	23865528	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:23865528G>A	ENST00000405093.3	-	20	2464	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	MYH6_ENST00000356287.3_Silent_p.L798L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	798	IQ.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAATGCGCATGAGCTGGCCCC	0.572000													37	73					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561477	15561477	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:15561477C>T	ENST00000344577.2	-	2	398	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	LIPI_ENST00000536861.1_Missense_Mutation_p.E104K	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.E125Q(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATATCTTCTTCATTCAGC	0.393000													17	33					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758401	5758401	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5758401G>A	ENST00000317121.3	+	1	721	c.655G>A	c.(655-657)Gat>Aat	p.D219N	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AATGGGGAGTGATCTAAGTCT	0.478000													13	40					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290787	5290787	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5290787G>A	ENST00000380237.1	-	4	556	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBE1_ENST00000292896.2_Missense_Mutation_p.S71F|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	71					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCAAAGGAAGTCAGCAC	0.512000													35	40					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691551	3691551	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:3691551C>T	ENST00000403096.3	+	6	1072	c.581C>T	c.(580-582)tCc>tTc	p.S194F	COLEC11_ENST00000418971.2_Missense_Mutation_p.S234F|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Missense_Mutation_p.S220F|COLEC11_ENST00000402794.1_Missense_Mutation_p.S170F|COLEC11_ENST00000382062.2_Missense_Mutation_p.S196F|COLEC11_ENST00000402922.1_Missense_Mutation_p.S170F|COLEC11_ENST00000236693.7_Missense_Mutation_p.S217F|COLEC11_ENST00000404205.1_Missense_Mutation_p.S146F	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	220	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCTGACCACTCCCCCATGCGG	0.647000													12	41					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72534538	72534538	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:72534538G>A	ENST00000569795.1	-	22	2352	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	PARP6_ENST00000287196.9_Silent_p.F555F|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	555	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GACTCTGCAGGAACCGTGACT	0.478000													7	32					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994678	11994678	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:11994678C>T	ENST00000333796.3	-	1	1908	c.1590_splice	c.e1+1	p.*531_splice	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	0					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCACTGAGATCACTGGCACAC	0.557000													22	129					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547941	17547941	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:17547941C>G	ENST00000005226.7	-	8	626	c.627G>C	c.(625-627)gaG>gaC	p.E209D	USH1C_ENST00000527720.1_Missense_Mutation_p.E178D|USH1C_ENST00000318024.4_Missense_Mutation_p.E209D|USH1C_ENST00000527020.1_Missense_Mutation_p.E209D	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	209					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGACCTTCTTCTCCTTGTTTT	0.617000													5	33					0	0	1	0	0
NANP	140838	broad.mit.edu	37	20	25596961	25596961	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:25596961G>A	ENST00000304788.3	-	2	573	c.347C>T	c.(346-348)gCc>gTc	p.A116V		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	116					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						AGTAAGCATGGCTTTGACGTC	0.453000													30	33					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985315	21985315	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:21985315G>A	ENST00000381418.4	-	3	2120	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	HR_ENST00000312841.8_Missense_Mutation_p.P214S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	214							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCCAACCTGGGAATGCTCGGA	0.567000													54	93					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117664507	117664507	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:117664507C>T	ENST00000317775.6	-	24	4370	c.3685G>A	c.(3685-3687)Gtc>Atc	p.V1229I	NOS1_ENST00000338101.4_Missense_Mutation_p.V1263I|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1229	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAACAGGGGACCAGTTCGTCA	0.502000													12	24					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371310	126371310	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:126371310C>T	ENST00000394329.3	+	9	9152	c.9139C>T	c.(9139-9141)Ctg>Ttg	p.L3047L	FAT4_ENST00000335110.5_Silent_p.L1345L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3047	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCATCCTCCCTGATTTCTGA	0.388000													20	29					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633000	143633000	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:143633000C>T	ENST00000408955.2	+	1	742	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTCCACCATCCTAAAGATCC	0.507000													32	45					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38181484	38181484	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38181484C>T	ENST00000417037.2	+	2	681	c.497C>T	c.(496-498)cCc>cTc	p.P166L	MYD88_ENST00000443433.2_Missense_Mutation_p.P166L|MYD88_ENST00000424893.1_Intron|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Missense_Mutation_p.P166L	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	153	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGATGACCCCCTGGGTAAG	0.562000			Mis		ABC-DLBCL								6	14					0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219528027	219528027	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:219528027C>T	ENST00000431802.1	+	8	1877	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	BCS1L_ENST00000412366.1_Missense_Mutation_p.P393L|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Missense_Mutation_p.P393L|BCS1L_ENST00000392110.2_Missense_Mutation_p.P393L|BCS1L_ENST00000392109.1_Missense_Mutation_p.P393L|BCS1L_ENST00000392111.2_Missense_Mutation_p.P393L|BCS1L_ENST00000359273.3_Missense_Mutation_p.P393L			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	393					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATCAGTCCTGCCCAGGTG	0.522000													53	19					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73726096	73726096	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:73726096C>T	ENST00000427855.1	+	16	1930	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	PAPLN_ENST00000340738.5_Missense_Mutation_p.P583S|PAPLN_ENST00000554301.1_Missense_Mutation_p.P610S|PAPLN_ENST00000555445.1_Missense_Mutation_p.P610S|PAPLN_ENST00000381166.3_Missense_Mutation_p.P610S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	610						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GGGCCCCGCTCCCTCTCTGCA	0.701000													26	34					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78710855	78710855	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:78710855G>A	ENST00000545128.1	+	8	1482	c.944G>A	c.(943-945)gGa>gAa	p.G315E	PCSK5_ENST00000376752.4_Missense_Mutation_p.G315E|PCSK5_ENST00000376767.3_Missense_Mutation_p.G315E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	315	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAAATGGTGGAAGGAGCAAA	0.493000													24	27					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203817384	203817384	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:203817384G>A	ENST00000320443.8	+	5	1452	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CARF_ENST00000438828.2_Missense_Mutation_p.D137N|CARF_ENST00000414439.1_Missense_Mutation_p.D35N|CARF_ENST00000456821.2_Missense_Mutation_p.D125N|WDR12_ENST00000477723.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.D137N|CARF_ENST00000545253.1_Missense_Mutation_p.D49N|CARF_ENST00000428585.1_Missense_Mutation_p.D61N|CARF_ENST00000434998.1_Missense_Mutation_p.D35N|CARF_ENST00000444724.1_Missense_Mutation_p.D137N|CARF_ENST00000545262.1_Missense_Mutation_p.D61N|CARF_ENST00000471271.1_3'UTR					calcium responsive transcription factor																		GCAACTTGTGGATGTGAATAG	0.418000													30	41					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188772	103188772	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:103188772A>T	ENST00000424970.2	-	8	1423	c.1108T>A	c.(1108-1110)Ttc>Atc	p.F370I	SLC39A8_ENST00000356736.4_Missense_Mutation_p.F370I|SLC39A8_ENST00000394833.2_Missense_Mutation_p.F370I	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	370						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GCAGAAAGGAAGTTGAATAGC	0.403000													41	35					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363528	22363528	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22363528G>A	ENST00000397121.2	-	3	1308	c.991C>T	c.(991-993)Cat>Tat	p.H331Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGCATGAATTCTCTTG	0.408000													6	67					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678765	100678765	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:100678765C>T	ENST00000306151.4	+	3	4132	c.4068C>T	c.(4066-4068)atC>atT	p.I1356I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1356	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATCAGCATCCTTTCAACAA	0.458000													148	226					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106046203	106046203	+	Silent	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:106046203G>C	ENST00000357242.5	+	1	294	c.120G>C	c.(118-120)ggG>ggC	p.G40G	TBC1D8B_ENST00000276175.3_Silent_p.G40G|TBC1D8B_ENST00000310452.2_Silent_p.G40G|TBC1D8B_ENST00000481617.2_Silent_p.G40G	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	40						intracellular	calcium ion binding|Rab GTPase activator activity	p.G40G(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGGCGGAGGGGGGCTCACAG	0.567000													19	9					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734110	28734110	+	RNA	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:28734110A>G	ENST00000550043.1	+	0	515																											CAGATTGGATATGGGTTGGTC	0.478000													32	39					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184070869	184070869	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:184070869G>A	ENST00000265593.4	-	18	2266	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	CLCN2_ENST00000344937.7_Missense_Mutation_p.L682F|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.L655F|CLCN2_ENST00000457512.1_Missense_Mutation_p.L699F|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	699						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCCCTCTTGAGTGCAGGCTTT	0.617000													69	119					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12618584	12618584	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:12618584C>T	ENST00000314565.4	+	4	796	c.465C>T	c.(463-465)atC>atT	p.I155I	LOH12CR1_ENST00000542728.1_Silent_p.I136I|LOH12CR1_ENST00000298571.6_Silent_p.I107I	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	155										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TGTCCGCCATCCTCCGCCGCA	0.572000													29	19					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232454	1232454	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:1232454C>T	ENST00000324642.3	+	2	404	c.281C>T	c.(280-282)tCc>tTc	p.S94F	SLC6A18_ENST00000296821.4_Missense_Mutation_p.S94F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	94					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGGCCATCTCCCCGTACCTC	0.687000													9	15					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114282634	114282634	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:114282634C>T	ENST00000393500.3	+	13	1540	c.720C>T	c.(718-720)tcC>tcT	p.S240S	FOXP2_ENST00000390668.3_Silent_p.S339S|FOXP2_ENST00000393494.2_Silent_p.S315S|FOXP2_ENST00000393489.3_Silent_p.S223S|FOXP2_ENST00000378237.3_Silent_p.S315S|FOXP2_ENST00000360232.4_Silent_p.S315S|FOXP2_ENST00000393498.2_Silent_p.S294S|FOXP2_ENST00000403559.4_Silent_p.S332S|FOXP2_ENST00000393491.3_Silent_p.S223S|FOXP2_ENST00000408937.3_Silent_p.S340S|FOXP2_ENST00000350908.4_Silent_p.S315S			O15409	FOXP2_HUMAN	forkhead box P2	315	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S340S(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCATCATTCCATAGTGAATG	0.388000													40	79					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807129	233807129	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:233807129G>A	ENST00000366621.3	+	3	1032	c.864G>A	c.(862-864)gaG>gaA	p.E288E	KCNK1_ENST00000366620.1_Silent_p.E172E|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	288						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	ACAAGGACGAGGATCAGGTGC	0.453000													32	17					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962431	73962431	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73962431G>A	ENST00000373468.1	-	3	2612	c.1961C>T	c.(1960-1962)tCa>tTa	p.S654L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S654L			Q5QGS0	K2022_HUMAN	KIAA2022	654					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S654*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTACATAATGAAATCTGTTT	0.423000													11	6					0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103846971	103846971	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:103846971G>A	ENST00000337198.5	-	7	1752	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	AZIN1_ENST00000347770.4_Missense_Mutation_p.H197Y	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	197					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CTCGAAACATGAAATCTGAAA	0.343000													14	26					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553772	19553772	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:19553772C>T	ENST00000409832.3	+	1	408	c.356C>T	c.(355-357)cCt>cTt	p.P119L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	119								p.P119L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGTGGGCCCTTGGGGAGAC	0.597000													57	978					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43930670	43930670	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:43930670C>T	ENST00000262726.7	-	30	4384	c.4131G>A	c.(4129-4131)ggG>ggA	p.G1377G	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Silent_p.G1225G	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1377	EF-hand 15.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGCAAATTTCCCGTTGCTCT	0.418000													29	48					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31605947	31605947	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:31605947G>A	ENST00000379416.3	-	11	1006	c.958C>T	c.(958-960)Cct>Tct	p.P320S	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	320	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTTTGGGCAGGAAGCTTAGCA	0.552000													8	38					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263083	167263083	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:167263083C>T	ENST00000409855.1	-	25	4182	c.4056G>A	c.(4054-4056)cgG>cgA	p.R1352R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1352					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGAATGATCCGTGAGAGAA	0.463000													33	40					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672104	49672104	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:49672104T>C	ENST00000561648.1	-	4	1012	c.959A>G	c.(958-960)aAc>aGc	p.N320S	ZNF423_ENST00000562520.1_Missense_Mutation_p.N260S|ZNF423_ENST00000562871.1_Missense_Mutation_p.N260S|ZNF423_ENST00000262383.2_Missense_Mutation_p.N320S|ZNF423_ENST00000535559.1_Missense_Mutation_p.N203S|ZNF423_ENST00000563137.2_Missense_Mutation_p.N260S|ZNF423_ENST00000567169.1_Missense_Mutation_p.N203S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	320					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGTTTCTGGTTGGCGTGGGC	0.612000													24	32					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409070	82409070	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:82409070G>A	ENST00000370728.1	+	8	1460	c.815G>A	c.(814-816)gGt>gAt	p.G272D	LPHN2_ENST00000394879.1_Missense_Mutation_p.G272D|LPHN2_ENST00000335786.5_Missense_Mutation_p.G272D|LPHN2_ENST00000370721.1_Missense_Mutation_p.G276D|LPHN2_ENST00000370715.1_Missense_Mutation_p.G272D|LPHN2_ENST00000370727.1_Missense_Mutation_p.G272D|LPHN2_ENST00000359929.3_Missense_Mutation_p.G272D|LPHN2_ENST00000319517.6_Missense_Mutation_p.G272D|LPHN2_ENST00000271029.4_Missense_Mutation_p.G272D|LPHN2_ENST00000370713.1_Missense_Mutation_p.G272D|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.G272D|LPHN2_ENST00000370723.1_Missense_Mutation_p.G272D|LPHN2_ENST00000370717.2_Missense_Mutation_p.G272D|LPHN2_ENST00000370730.1_Missense_Mutation_p.G272D			O95490	LPHN2_HUMAN	latrophilin 2	272	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GATGAAAATGGTTTATGGGTC	0.428000													61	41					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815186	137815186	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:137815186G>A	ENST00000367734.2	-	1	345	c.122C>T	c.(121-123)tCg>tTg	p.S41L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGCGTGGACGAGACCGAGTT	0.607000													36	72					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44912586	44912586	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:44912586G>A	ENST00000261866.7	-	15	2652	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F	SPG11_ENST00000558319.1_Missense_Mutation_p.S879F|SPG11_ENST00000535302.2_Missense_Mutation_p.S879F|SPG11_ENST00000427534.2_Missense_Mutation_p.S879F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	879					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCTTCAGGGGAATATGATTT	0.313000													8	18					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137756645	137756645	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:137756645C>T	ENST00000314358.5	+	15	4166	c.3966C>T	c.(3964-3966)tcC>tcT	p.S1322S	KDM3B_ENST00000394866.1_Silent_p.S978S|KDM3B_ENST00000542866.1_Silent_p.S354S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1322					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTCTACATCCTCAGCAGTAA	0.502000													22	62					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962845	96962845	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:96962845C>T	ENST00000389672.5	+	5	1358	c.1320C>T	c.(1318-1320)gcC>gcT	p.A440A	EPHA6_ENST00000470610.2_Silent_p.A440A	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	345	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGAAACAGCCCTTATTTTGG	0.398000													8	14					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071169	102071169	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:102071169G>A	ENST00000549145.1	+	27	3224	c.3124G>A	c.(3124-3126)Gat>Aat	p.D1042N	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D1029N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D912N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D1029N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D998N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D985N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D1029N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D997N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D1036N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D999N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D1011N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D1036N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D1029N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D992N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D1011N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1029					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCGCCAGGGATGGTGAGTT	0.448000													7	20					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959121	2959121	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:2959121C>T	ENST00000396946.4	-	18	2798	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	799					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCACAACATCGTCACACTTC	0.597000			Mis		DLBCL								18	20					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671187	31671187	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:31671187C>T	ENST00000375483.3	+	3	184	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	62						cytoplasm|extracellular region	lipid binding										TGGTGATATTCCCTACAATGA	0.507000													21	77					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763508	20763508	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:20763508G>A	ENST00000382844.1	-	1	411	c.213C>T	c.(211-213)atC>atT	p.I71I	GJB2_ENST00000382848.4_Silent_p.I71I			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	71			I -> T (in deafness).		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GGATGTGGGAGATGGGGAAGT	0.592000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	44					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431629	89431629	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:89431629C>T	ENST00000532352.1	+	0	1911							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGGAGTCATTCCCAGGAATTT	0.438000													20	56					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334817	71334817	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:71334817G>A	ENST00000392650.3	-	45	6428	c.6428C>T	c.(6427-6429)cCc>cTc	p.P2143L	SDK2_ENST00000388726.3_Missense_Mutation_p.P2124L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2143					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGACTTGGGGGGTTAGGGGG	0.627000													9	16					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92280059	92280059	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:92280059C>T	ENST00000435962.2	-	2	378	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	TC2N_ENST00000360594.5_Missense_Mutation_p.E19K|TC2N_ENST00000340892.5_Missense_Mutation_p.E19K|TC2N_ENST00000556018.1_Missense_Mutation_p.E19K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	19						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTGTGTTTTTCTGTTTCACCA	0.323000													4	16					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400355	40400355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:40400355C>T	ENST00000338305.6	-	2	1040	c.498G>A	c.(496-498)tgG>tgA	p.W166*		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	166						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCACGGAGTCCCACGGCAGGC	0.592000													31	60					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563764	176563764	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:176563764C>T	ENST00000367662.3	+	3	2188	c.1024C>T	c.(1024-1026)Ctc>Ttc	p.L342F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L342F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	342					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTCTTCTCCCTCTGCACCGA	0.572000													29	26					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80158559	80158559	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:80158559C>T	ENST00000428277.2	+	4	1031	c.645C>T	c.(643-645)atC>atT	p.I215I	NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000556003.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGAAAATCCCCTTCAAAT	0.328000													11	21					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023446	109023446	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:109023446G>A	ENST00000478945.1	-	7	976	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	244						nucleus	nucleic acid binding	p.H244Y(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGACCTGCATGAAACTGCAGG	0.502000													30	48					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569599	248569599	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:248569599G>A	ENST00000366474.1	+	1	304	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCCAAACAGATTTGCGCCT	0.418000													27	134					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169604186	169604186	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:169604186G>A	ENST00000335742.7	+	5	1403	c.46G>A	c.(46-48)Gga>Aga	p.G16R	PALLD_ENST00000333488.4_Missense_Mutation_p.G275R|PALLD_ENST00000505667.1_Missense_Mutation_p.G398R|PALLD_ENST00000512127.1_Missense_Mutation_p.G16R|PALLD_ENST00000261509.6_Missense_Mutation_p.G398R			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	398					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTGACAATAGGATCATCATC	0.403000									Pancreatic Cancer, Familial Clustering of				10	34					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347561	74347561	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:74347561C>T	ENST00000226355.3	+	1	162	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	23	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAACCCTGCCCACACAACCTC	0.299000													3	23					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749347	79749347	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:79749347G>A	ENST00000305428.3	+	2	933	c.858G>A	c.(856-858)agG>agA	p.R286R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	286						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATGAGCACAGGGAACCCCAGA	0.493000													43	60					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574928	22574928	+	Missense_Mutation	SNP	C	C	T	rs74170714		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22574928C>T	ENST00000357774.5	-	4	1230	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGAATGAATTCTCTTATGTGT	0.383000													7	16					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519576	53519576	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:53519576C>T	ENST00000370905.3	-	2	635	c.495G>A	c.(493-495)cgG>cgA	p.R165R	KLHL31_ENST00000407079.1_Silent_p.R165R	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACTCATCTCCCGTATCAGAA	0.373000													27	49					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66898938	66898938	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:66898938C>T	ENST00000269080.2	-	19	2697	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	ABCA8_ENST00000430352.2_Missense_Mutation_p.E894K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E894K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	854						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAGAAAGTTCCCAGGTGTAA	0.383000													27	51					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023024	76023024	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:76023024C>T	ENST00000393004.2	-	5	2745	c.2524G>A	c.(2524-2526)Gga>Aga	p.G842R	FILIP1_ENST00000370020.1_Missense_Mutation_p.G743R|FILIP1_ENST00000237172.7_Missense_Mutation_p.G842R|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	842										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTTCAATCCCACCTGCCGA	0.448000													52	145					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8387731	8387731	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:8387731C>T	ENST00000330915.3	-	11	2523	c.2458G>A	c.(2458-2460)Gtt>Att	p.V820I	RPS28_ENST00000600659.2_3'UTR	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	0										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCTTACTGAACCTGGGGGTTC	0.607000													11	17					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72534537	72534537	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:72534537G>A	ENST00000569795.1	-	22	2353	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L	PARP6_ENST00000287196.9_Silent_p.L556L|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	556	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGACTCTGCAGGAACCGTGAC	0.478000													7	32					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11534590	11534590	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:11534590T>A	ENST00000356392.4	-	8	1159	c.1072A>T	c.(1072-1074)Atc>Ttc	p.I358F	CCDC151_ENST00000591179.1_Missense_Mutation_p.I298F|CCDC151_ENST00000586836.1_Missense_Mutation_p.I167F|CCDC151_ENST00000545100.1_Missense_Mutation_p.I304F	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	358										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTGCCAAAGATCACCTCCATC	0.667000													48	82					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39795360	39795360	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:39795360C>T	ENST00000442448.1	-	5	652	c.381G>A	c.(379-381)acG>acA	p.T127T	ERG_ENST00000417133.2_Silent_p.T127T|ERG_ENST00000398897.1_Silent_p.T28T|ERG_ENST00000453032.2_Silent_p.T28T|ERG_ENST00000398907.1_Silent_p.T120T|ERG_ENST00000398905.1_Silent_p.T120T|ERG_ENST00000429727.2_Silent_p.T120T|ERG_ENST00000398910.1_Silent_p.T127T|ERG_ENST00000288319.7_Silent_p.T120T|ERG_ENST00000398911.1_Silent_p.T127T|ERG_ENST00000398919.2_Silent_p.T127T	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	127	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TGCGCTCGTTCGTGGTCATGT	0.607000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								15	30					0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118011948	118011948	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:118011948G>A	ENST00000324727.4	-	4	713	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SCN4B_ENST00000423160.2_5'UTR|SCN4B_ENST00000529878.1_Silent_p.F55F	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	189						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		TCTTCAGGATGAAGATGATGA	0.542000													15	44					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752347	247752347	+	Nonsense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247752347T>A	ENST00000320065.1	+	1	686	c.686T>A	c.(685-687)tTg>tAg	p.L229*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACGCAGTGTTGAGGATTAAG	0.473000													20	78					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72537057	72537057	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:72537057C>T	ENST00000299290.1	-	7	931	c.542G>A	c.(541-543)gGg>gAg	p.G181E	TBATA_ENST00000456372.2_Missense_Mutation_p.G181E	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GTACTTTGCCCCCTGCTCCCG	0.642000													12	33					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	G	A	rs34553661		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55782888G>A	ENST00000373965.2	-	20	2705	c.2311C>T	c.(2311-2313)Cgt>Tgt	p.R771C	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R771C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R764C|PCDH15_ENST00000395430.1_Missense_Mutation_p.R764C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R742C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R764C|PCDH15_ENST00000361849.3_Missense_Mutation_p.R764C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R693C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R727C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R375C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R769C|PCDH15_ENST00000373955.1_Missense_Mutation_p.R764C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)			23	26					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862260	5862260	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5862260G>A	ENST00000329322.5	-	1	867	c.868C>T	c.(868-870)Cct>Tct	p.P290S	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.P294S	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGATTACAGGATTGAGGGTG	0.413000													27	24					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27777653	27777653	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:27777653C>T	ENST00000261588.4	+	20	3852	c.3833C>T	c.(3832-3834)aCc>aTc	p.T1278I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1278										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACCAACATCACCATGGAGGAT	0.647000													20	70					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104227	1104227	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:1104227G>A	ENST00000441003.2	+	49	8445	c.8418G>A	c.(8416-8418)cgG>cgA	p.R2806R		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5168						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTCCCGCCGGGCCCGGCGCT	0.711000													8	21					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217220	98217220	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:98217220G>T	ENST00000427338.1	+	1	773	c.696G>T	c.(694-696)gaG>gaT	p.E232D	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	232					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						AATCCAAGGAGGGAAGGGCCA	0.338000													15	40					4.93089e-13	4.98352e-13	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141986781	141986781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:141986781C>T	ENST00000389484.3	-	6	1792	c.821G>A	c.(820-822)tGg>tAg	p.W274*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	274					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGATTGTCCATTCATCTGT	0.323000										TSP Lung(27;0.18)			18	42					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33462244	33462244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:33462244C>T	ENST00000265112.3	+	16	2082	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	TARS_ENST00000541634.1_Nonsense_Mutation_p.R487*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R470*|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000455217.2_Nonsense_Mutation_p.R624*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R591*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	591					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GATTGTTCATCGAGCCATCTT	0.328000													41	77					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477598	31477598	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:31477598C>T	ENST00000408912.3	+	8	2798	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	ARMC5_ENST00000563544.1_Silent_p.S732S|ARMC5_ENST00000268314.4_Silent_p.S732S|ARMC5_ENST00000412665.2_Silent_p.S376S|ARMC5_ENST00000538189.1_Silent_p.S764S|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	732							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACTCACCTTCCCCTTGCCTCT	0.647000													13	12					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160571	132160571	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:132160571G>A	ENST00000511190.1	-	6	2147	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	USP26_ENST00000370832.1_Missense_Mutation_p.P560S|USP26_ENST00000406273.1_Missense_Mutation_p.P560S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	560					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTCAAGGGAAGAGGTGGT	0.378000													37	9					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270884	22270884	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22270884T>C	ENST00000594947.1	+	4	476	c.332T>C	c.(331-333)tTa>tCa	p.L111S	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATGAGAATTTACAATTAAGA	0.363000													20	31					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140061	3140061	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3140061C>T	ENST00000252463.2	-	5	1296	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	ZSCAN10_ENST00000575108.1_Silent_p.Q64Q|ZSCAN10_ENST00000538082.2_Silent_p.Q321Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	403					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGCGGCTTCTGGTCCTGGG	0.706000													6	9					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050183	39050183	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:39050183C>T	ENST00000295373.6	-	17	3369	c.3243G>A	c.(3241-3243)ttG>ttA	p.L1081L		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1081							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAGCAGGATCCAAACAGCGGA	0.448000													7	23					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183124	56183124	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:56183124C>T	ENST00000288221.6	-	5	1441	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	396						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCTCAAGATCCCTTATGTTT	0.343000													8	23					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	141					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567098	136567098	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:136567098C>T	ENST00000264162.2	-	8	2829	c.2819G>A	c.(2818-2820)gGg>gAg	p.G940E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	940	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACATTGCTCCCTGGTGTGTG	0.542000													15	47					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815211	147815211	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:147815211G>A	ENST00000361727.3	+	16	2901	c.2383_splice	c.e16-1	p.R795_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	795	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCCCACAGGGAATTATTGGA	0.418000										HNSCC(39;0.1)			30	80					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786523	121786523	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:121786523G>A	ENST00000261367.7	+	12	3550	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	SNCAIP_ENST00000379538.3_Missense_Mutation_p.E295K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E263K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E708K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E219K|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E661K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E601K|CTC-210G5.1_ENST00000510972.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	661					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.E661K(1)|p.E708K(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAGAAGAGGGAACTGAAGTT	0.488000													23	30					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116424217	116424217	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:116424217G>A	ENST00000281928.3	-	19	4398	c.4192C>T	c.(4192-4194)Cca>Tca	p.P1398S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1398	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGAATGGCGAGATGGTG	0.507000													26	45					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18027833	18027833	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:18027833C>T	ENST00000205890.5	+	3	3984	c.3646C>T	c.(3646-3648)Cgt>Tgt	p.R1216C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1216	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CATGCGGTTCCGTGAGCAGCA	0.652000													13	23					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470695	111470695	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:111470695C>T	ENST00000265162.5	+	16	2579	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	746					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTACTCCGTTCCTCCGTGTTA	0.383000													22	71					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944093	73944093	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:73944093C>T	ENST00000476977.1	+	9	2811	c.1120C>T	c.(1120-1122)Ccc>Tcc	p.P374S	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P406S|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P374S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P374S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	374						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCACATGGTCCCCGTGCCCTA	0.622000													20	24					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488698	108488698	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:108488698C>T	ENST00000408999.3	+	20	4315	c.4238C>T	c.(4237-4239)cCa>cTa	p.P1413L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1413L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1413	RanBD1 2.				intracellular transport		binding	p.P1413Q(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACAATAACTCCAGACATGAGT	0.358000													61	260					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127318226	127318226	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:127318226C>T	ENST00000265056.7	+	2	316	c.72C>T	c.(70-72)ctC>ctT	p.L24L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	24	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ATGATCCTCTCACCTCCAGCC	0.612000													34	180					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377368	44377368	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:44377368C>T	ENST00000587539.1	-	3	997	c.998G>A	c.(997-999)gGa>gAa	p.G333E	ZNF404_ENST00000324394.6_Missense_Mutation_p.G331E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAAAGCCTTTCCACATTCCAT	0.383000													26	37					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37101627	37101627	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:37101627C>T	ENST00000435416.1	+	2	1710	c.215C>T	c.(214-216)cCa>cTa	p.P72L	ZNF382_ENST00000292928.2_Missense_Mutation_p.P72L|ZNF382_ENST00000423582.1_Missense_Mutation_p.P23L|ZNF382_ENST00000439428.1_Missense_Mutation_p.P71L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	72	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAATTTTTCCAAGTTACAGC	0.373000													20	37					0	0	1	0	0
TWF2	11344	broad.mit.edu	37	3	52263098	52263098	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:52263098G>A	ENST00000305533.5	-	9	1245	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	TLR9_ENST00000597542.1_Intron|TLR9_ENST00000494383.1_Intron|TWF2_ENST00000499914.2_3'UTR	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGCTTATGGCCCCGCTTGC	0.667000													36	61					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198758	20198758	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:20198758C>T	ENST00000400331.5	-	5	1534	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	MACC1_ENST00000589011.1_Missense_Mutation_p.G409E|MACC1_ENST00000332878.4_Missense_Mutation_p.G409E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	409					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TATGTTTTTTCCACCCTTCTT	0.368000													16	32					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805809	31805809	+	RNA	SNP	G	G	A	rs61748133		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:31805809G>A	ENST00000405650.1	-	0	327							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCTCCTGCAGGAACCAGGCGG	0.711000													9	15					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107718648	107718648	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:107718648C>T	ENST00000388781.3	-	16	2084	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	LAMB4_ENST00000414450.2_Silent_p.T667T|LAMB4_ENST00000205386.4_Silent_p.T667T|LAMB4_ENST00000388780.3_Silent_p.T667T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	667	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAACATACCTCGTAGCCGCTG	0.468000													5	8					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395955	101395955	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:101395955C>T	ENST00000372774.3	-	3	598	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	TCEAL6_ENST00000372773.1_Missense_Mutation_p.G117R	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCGTCCGTCCCCCTGTCTGTT	0.582000													71	15					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24207428	24207428	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24207428T>A	ENST00000265769.4	+	19	2152	c.2042T>A	c.(2041-2043)gTg>gAg	p.V681E	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G429G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	681					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTTTGTGGTGGTTGCTATG	0.507000													48	97					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750611	94750611	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:94750611C>T	ENST00000306011.3	+	1	570	c.534C>T	c.(532-534)gcC>gcT	p.A178A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	178	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TGAACCACGCCTTCGACCAGC	0.567000													10	35					0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25057171	25057171	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:25057171G>A	ENST00000376709.4	-	5	1087	c.824C>T	c.(823-825)tCc>tTc	p.S275F	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	275	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						CATCCCCATGGATTTTTTATG	0.348000													36	44					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9360030	9360030	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:9360030T>G	ENST00000262120.5	+	3	375	c.184T>G	c.(184-186)Tgt>Ggt	p.C62G	TWSG1_ENST00000581641.1_Missense_Mutation_p.C62G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	62	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GTGCATGCTGTGTCTTGGGGC	0.458000													8	56					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314241	153314241	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:153314241G>A	ENST00000368739.3	-	6	833	c.475C>T	c.(475-477)Cct>Tct	p.P159S	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.P163S			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	163					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCAGCAGGGCTGGGACTG	0.547000													40	65					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146572221	146572221	+	Silent	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:146572221T>G	ENST00000281317.5	+	5	1951	c.741T>G	c.(739-741)ggT>ggG	p.G247G	MMAA_ENST00000541599.1_Intron	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	247						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGTGTGGGTCAGTCGGAGT	0.378000													8	23					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10602048	10602048	+	Silent	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:10602048T>C	ENST00000334534.5	+	7	672	c.492T>C	c.(490-492)aaT>aaC	p.N164N		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TCCGGAGAAATGCTCTGAAAG	0.413000													8	35					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563936	55563936	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:55563936C>T	ENST00000335605.1	+	1	905	c.905C>T	c.(904-906)gCt>gTt	p.A302V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTGAAGGATGCTTTCTGGAAG	0.408000													15	17					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320605	7320605	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:7320605C>T	ENST00000302926.2	+	7	2068	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	NLGN2_ENST00000575301.1_Silent_p.F665F	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	665					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ATGACCGCTTCCCCGGGGACT	0.731000													6	11					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739450	28739450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:28739450G>A	ENST00000257197.3	-	2	367	c.106C>T	c.(106-108)Cga>Tga	p.R36*	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Nonsense_Mutation_p.R36*	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	36					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAAGGAACTCGAAGATAAACT	0.333000													13	18					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760833	62760833	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:62760833G>A	ENST00000311438.8	-	9	1591	c.1592C>T	c.(1591-1593)gCt>gTt	p.A531V	SLC22A8_ENST00000430500.2_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000545207.1_Intron			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	61					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CTAAGGAAAAGCCCTGGGCCC	0.597000													12	29					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840692	107840692	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:107840692G>A	ENST00000328300.6	+	24	1917	c.1673G>A	c.(1672-1674)gGt>gAt	p.G558D	COL4A5_ENST00000361603.2_Missense_Mutation_p.G558D	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	558	Triple-helical region.		G -> R (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAATGAAGGGTGACAAAGGA	0.547000									Alport syndrome with Diffuse Leiomyomatosis				27	13					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72959143	72959143	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:72959143G>A	ENST00000425042.2	-	4	498	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		GACTCGGCCAGGGGCCTGGCA	0.647000													12	25					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531530	42531530	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:42531530C>T	ENST00000282030.5	+	4	2521	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	742						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCGAAGAACCCAAAACAGCC	0.562000									Schinzel-Giedion syndrome				15	18					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667847	49667847	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:49667847A>G	ENST00000249601.4	-	5	835	c.539T>C	c.(538-540)gTg>gCg	p.V180A	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.V71A|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.V90A|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.V90A|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.V186A|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.V196A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	180	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATGAAGTCCACACACTGCTC	0.647000													49	72					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995504	53995504	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:53995504G>A	ENST00000312233.2	-	4	1483	c.917C>T	c.(916-918)tCc>tTc	p.S306F		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	306					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCGGTCGCTGGAGTTGCTGAA	0.652000													53	33					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967819	54967819	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:54967819G>A	ENST00000326902.2	+	2	959	c.645G>A	c.(643-645)ctG>ctA	p.L215L	GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	215						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCAACTCCTGGAGCTGGAGA	0.557000													34	48					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769053	247769053	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247769053C>T	ENST00000320002.2	+	1	198	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H56Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCCCTCTTCATACCCCAAT	0.433000													140	164					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444320	150444320	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:150444320C>T	ENST00000401000.4	+	10	2883	c.2818C>T	c.(2818-2820)Cct>Tct	p.P940S	RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000369068.4_Missense_Mutation_p.P966S|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	966	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCAGACTCTCCTCACCCAGT	0.542000													60	427					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53085019	53085019	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:53085019C>T	ENST00000276480.7	-	10	1085	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G134G(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTCAAATTTCCCCAAGTGCA	0.383000													22	27					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730554	141730554	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:141730554G>A	ENST00000475668.2	+	12	1521	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G	MGAM_ENST00000549489.2_Silent_p.G489G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	489	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTCATTGGGGAGGTAACTT	0.473000													28	53					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999824	46999824	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:46999824C>T	ENST00000374314.4	+	1	1899	c.944C>T	c.(943-945)aCc>aTc	p.T315I	GPRIN2_ENST00000374317.1_Missense_Mutation_p.T315I			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	315										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GATGTGTGGACCATGACCTCA	0.642000													22	81					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62273660	62273660	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:62273660C>T	ENST00000261517.5	-	22	2120	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E640K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E640K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E683K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	683					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCGAGTTTCAATAATATGT	0.313000													3	20					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117664508	117664508	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:117664508C>T	ENST00000317775.6	-	24	4369	c.3684G>A	c.(3682-3684)ctG>ctA	p.L1228L	NOS1_ENST00000338101.4_Silent_p.L1262L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1228	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AACAGGGGACCAGTTCGTCAG	0.507000													12	24					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394653	47394653	+	Silent	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47394653A>G	ENST00000362063.2	-	2	753	c.435T>C	c.(433-435)ccT>ccC	p.P145P	ZNF652_ENST00000430262.2_Silent_p.P145P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	145	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCTTAAGAACAGGAGTCTCTT	0.418000													74	131					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100510842	100510842	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:100510842G>A	ENST00000457717.1	+	5	692	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	MTTP_ENST00000511045.1_Missense_Mutation_p.E173K|MTTP_ENST00000265517.5_Missense_Mutation_p.E146K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	146	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGTGGCCATAGAAAATATCAA	0.403000													5	45					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71420182	71420182	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:71420182G>A	ENST00000392650.3	-	13	1633	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	SDK2_ENST00000388726.3_Missense_Mutation_p.R545C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	545	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGCGGATACGAGGATGGCTC	0.587000													8	16					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51492053	51492053	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:51492053C>T	ENST00000298355.3	-	2	1969	c.848G>A	c.(847-849)gGa>gAa	p.G283E	TRIM9_ENST00000360392.4_Missense_Mutation_p.G283E|TRIM9_ENST00000338969.5_Missense_Mutation_p.G283E	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	283					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTCTGACAGTCCGTTCAGCGC	0.537000													56	115					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144759929	144759929	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:144759929C>T	ENST00000367545.3	+	11	1290	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	430	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCAGCAGCTCTCCGCCTGGT	0.483000													22	38					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50294495	50294495	+	Silent	SNP	C	C	T	rs142945610		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:50294495C>T	ENST00000313601.6	+	7	1234	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	GNAI2_ENST00000266027.5_Silent_p.L268L|GNAI2_ENST00000422163.1_Silent_p.L268L|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.L247L|GNAI2_ENST00000440628.1_Silent_p.L232L|GNAI2_ENST00000536647.1_Silent_p.L203L	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	284					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.L284L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ACACAGTCCCCTGACCATCTG	0.527000											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	47					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86452364	86452364	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:86452364C>T	ENST00000297814.2	-	18	3901	c.3758G>A	c.(3757-3759)gGa>gAa	p.G1253E	RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.G1156E|RP11-575L7.2_ENST00000412069.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.G1187E|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1253					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATGCCTCCTCCTTCTGGCTT	0.373000													39	24					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622461	202622461	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:202622461G>A	ENST00000264276.6	-	5	1507	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	379					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGAGATTAGGAATTGCTTCT	0.393000													11	36					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23244844	23244844	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:23244844G>A	ENST00000298032.5	+	4	359	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ARMC3_ENST00000409983.3_Missense_Mutation_p.G92E|ARMC3_ENST00000409049.3_Missense_Mutation_p.G92E|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000464017.1_3'UTR	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	92							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGATATTTGGAATCCTGGCT	0.299000													8	16					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54675647	54675647	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:54675647C>T	ENST00000376591.4	-	2	434	c.303G>A	c.(301-303)cgG>cgA	p.R101R	TMC4_ENST00000301187.4_Silent_p.R95R|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	101						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCTGTGTGCCCGTCTGGCCT	0.662000													25	38					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625252	74625252	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:74625252G>A	ENST00000156626.7	-	2	872	c.673C>T	c.(673-675)Cca>Tca	p.P225S	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	225					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TCCTTAGGTGGGATGACTGCT	0.557000													23	60					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577623	92577623	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:92577623A>G	ENST00000298047.6	+	18	11107	c.11090A>G	c.(11089-11091)aAc>aGc	p.N3697S	FAT3_ENST00000525166.1_Missense_Mutation_p.N3547S|FAT3_ENST00000409404.2_Missense_Mutation_p.N3697S|FAT3_ENST00000533797.1_Missense_Mutation_p.N32S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3697					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGGCACCAACCAACTGGAC	0.587000										TCGA Ovarian(4;0.039)			9	15					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944944	55944944	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55944944T>G	ENST00000373965.2	-	13	1805	c.1411A>C	c.(1411-1413)Acc>Ccc	p.T471P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.T471P|PCDH15_ENST00000320301.6_Missense_Mutation_p.T464P|PCDH15_ENST00000395430.1_Missense_Mutation_p.T464P|PCDH15_ENST00000395433.1_Missense_Mutation_p.T442P|PCDH15_ENST00000395438.1_Missense_Mutation_p.T464P|PCDH15_ENST00000361849.3_Missense_Mutation_p.T464P|PCDH15_ENST00000437009.1_Missense_Mutation_p.T464P|PCDH15_ENST00000373957.3_Missense_Mutation_p.T442P|PCDH15_ENST00000395432.2_Missense_Mutation_p.T427P|PCDH15_ENST00000395446.1_Missense_Mutation_p.T464P|PCDH15_ENST00000409834.1_Missense_Mutation_p.T75P|PCDH15_ENST00000414778.1_Missense_Mutation_p.T469P|PCDH15_ENST00000373955.1_Missense_Mutation_p.T464P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	464	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.T469S(1)|p.T464S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGTAAGGTGAGGTAGCGA	0.388000										HNSCC(58;0.16)			30	48					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22573922	22573922	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:22573922C>T	ENST00000390453.1	+	0	142																											CTGCAGCTTCCCTTCCAGCAA	0.443000													6	4					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152132142	152132142	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:152132142T>C	ENST00000243346.5	-	6	960	c.490A>G	c.(490-492)Att>Gtt	p.I164V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	164					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GTGTCAGGAATTTCAGTAACA	0.398000													23	35					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48517196	48517196	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:48517196C>T	ENST00000358350.4	-	56	8390	c.7786G>A	c.(7786-7788)Gga>Aga	p.G2596R	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.G2596R|FRYL_ENST00000503238.1_Missense_Mutation_p.G2596R|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2596					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						TCAAGAATTCCTTGACACACA	0.398000													36	63					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150695766	150695766	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:150695766G>A	ENST00000297494.3	+	7	1171	c.814G>A	c.(814-816)Gag>Aag	p.E272K	NOS3_ENST00000467517.1_Missense_Mutation_p.E272K|NOS3_ENST00000461406.1_Missense_Mutation_p.E66K|NOS3_ENST00000484524.1_Missense_Mutation_p.E272K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	272	Interaction with NOSIP.				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)	GGAGATCACCGAGGTGGGCAC	0.652000													6	9					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532072	50532072	+	Silent	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50532072C>A	ENST00000374144.3	+	3	1770	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	C10orf71_ENST00000323868.4_Silent_p.S494S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	494										endometrium(1)	1						GCTACAAGTCCAAAGCCCCTA	0.522000													9	13					2.74318e-10	2.76338e-10	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319735	21319735	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:21319735G>A	ENST00000583088.1	+	3	1976	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D361N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAGTGCGAAGGATCTGGTAGA	0.582000										Prostate(3;0.18)			12	91					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810762	65810762	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:65810762G>A	ENST00000312006.4	-	3	793	c.512C>T	c.(511-513)gCc>gTc	p.A171V	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A171V	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	171					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCGCCGGAAGGCCGGGCAGTA	0.662000													10	21					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127678	152127678	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152127678C>T	ENST00000316073.3	-	3	1961	c.1897G>A	c.(1897-1899)Gga>Aga	p.G633R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	633	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATCCCTGTCCCTGGTTTTGG	0.493000													39	98					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594856	140594856	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140594856G>A	ENST00000341948.4	+	1	1348	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.Q387H(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCATTCAGGAGGATCTAC	0.458000													44	77					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919977	4919977	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:4919977C>T	ENST00000433855.1	+	1	1636	c.770C>T	c.(769-771)tCc>tTc	p.S257F	KCNA6_ENST00000280684.3_Missense_Mutation_p.S257F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	257						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTTGGGGGCTCCTTCTTTACA	0.567000										HNSCC(72;0.22)			35	27					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104519	142104519	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:142104519G>A	ENST00000390379.1	-	0	34																											CCACAGGAGAGAAAAGGCCAC	0.597000													25	53					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000													73	327					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244483	1244483	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:1244483G>A	ENST00000324642.3	+	10	1614	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	SLC6A18_ENST00000296821.4_Missense_Mutation_p.M395I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	497					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTTATGGAATGAAACGGTGAG	0.587000													33	59					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071114	150071114	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:150071114C>T	ENST00000409642.3	+	7	915	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	LYPD6B_ENST00000409029.1_Missense_Mutation_p.H148Y|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.H172Y|LYPD6B_ENST00000409876.1_Missense_Mutation_p.H148Y	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	148						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCCACCAATCACACTAATGC	0.468000													20	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469809	179469809	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179469809A>T	ENST00000589042.1	-	280	54319	c.54095T>A	c.(54094-54096)aTt>aAt	p.I18032N	TTN_ENST00000342992.6_Missense_Mutation_p.I15464N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I8967N|TTN_ENST00000359218.5_Missense_Mutation_p.I9092N|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I16391N|TTN_ENST00000342175.6_Missense_Mutation_p.I9159N|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16391							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)			CGCTTTGGGAATGCTAAGCTC	0.448000													56	57					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409441	82409441	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:82409441G>A	ENST00000370728.1	+	8	1831	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	LPHN2_ENST00000394879.1_Missense_Mutation_p.D396N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D396N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D400N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D396N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D396N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D396N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D396N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D396N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D396N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D396N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D396N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D396N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D396N			O95490	LPHN2_HUMAN	latrophilin 2	396					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGTCCACCTGATCCTGCCCA	0.343000													31	35					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056655	153056655	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153056655G>A	ENST00000285900.5	+	7	1306	c.963G>A	c.(961-963)ggG>ggA	p.G321G	GRIA1_ENST00000448073.4_Silent_p.G331G|GRIA1_ENST00000518783.1_Silent_p.G331G|GRIA1_ENST00000340592.5_Silent_p.G321G|GRIA1_ENST00000518142.1_Silent_p.G241G|GRIA1_ENST00000521843.2_Silent_p.G252G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	321					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAATGCTGGGGATTGTCTGG	0.567000													10	18					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026371	176026371	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:176026371G>A	ENST00000303991.4	-	2	642	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	155						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGGACTTGAAATCCATCT	0.507000													37	72					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18269487	18269487	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:18269487G>A	ENST00000414546.2	-	2	116	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SAA2_ENST00000530400.1_Silent_p.F24F|SAA2_ENST00000256733.4_Silent_p.F24F|SAA2_ENST00000528349.1_Silent_p.F24F|SAA2_ENST00000529528.1_Silent_p.F24F|SAA2_ENST00000526900.1_Silent_p.F24F|SAA2-SAA4_ENST00000524555.1_RNA	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CCTCGCCAAGGAACGAAAAGA	0.493000													9	45					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73040680	73040680	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73040680C>T	ENST00000604411.1	+	0	28641				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CAAGAGTCTTCCATTTATCTT	0.358000													16	6					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041540	107041540	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:107041540C>T	ENST00000409886.3	-	20	2970	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V	RGPD3_ENST00000304514.7_Silent_p.V961V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	961					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GGCCAAAAATCACACCACGGC	0.413000													71	214					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965093	42965093	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:42965093G>A	ENST00000399770.2	+	2	569	c.569G>A	c.(568-570)cGa>cAa	p.R190Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	190	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAACGATGCCGACGAGTTTCT	0.428000													153	163					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688163	55688163	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:55688163G>A	ENST00000358433.2	-	1	853	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAAATGAAGGGATTTAGTAA	0.348000													29	42					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884066	19884066	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:19884066G>A	ENST00000300571.2	-	2	293	c.102C>T	c.(100-102)tcC>tcT	p.S34S	GPRC5B_ENST00000537135.1_Silent_p.S60S|GPRC5B_ENST00000569847.1_Silent_p.S34S|GPRC5B_ENST00000569479.1_Silent_p.S34S|GPRC5B_ENST00000535671.1_Silent_p.S34S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	34										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGCCTCGGGATGTGCTGG	0.637000													8	27					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153429380	153429380	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153429380T>G	ENST00000436816.1	+	2	317	c.98T>G	c.(97-99)cTg>cGg	p.L33R	MFAP3_ENST00000439768.2_Intron|MFAP3_ENST00000322602.5_Missense_Mutation_p.L33R	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	33						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGGTTTCACTGGAAGCAAAT	0.428000													21	22					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483774	31483774	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:31483774G>A	ENST00000322054.5	+	4	1186	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	301					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CATCAAAAGGGCCAGGCTGGC	0.627000													33	24					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129782113	129782113	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:129782113G>A	ENST00000358825.5	-	19	3092	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	PRDM10_ENST00000528746.1_Missense_Mutation_p.S924F|PRDM10_ENST00000360871.3_Missense_Mutation_p.S950F|PRDM10_ENST00000526082.1_Missense_Mutation_p.S868F|PRDM10_ENST00000423662.2_Missense_Mutation_p.S868F|PRDM10_ENST00000304538.6_Intron	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	954	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTGGTGAGGGGAAGTGGCCTG	0.502000													14	72					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154801016	154801016	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:154801016G>A	ENST00000392825.3	+	3	573	c.6G>A	c.(4-6)agG>agA	p.R2R	GALNT13_ENST00000409237.1_Silent_p.R2R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	2						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGACATGAGGAGATTTGTCT	0.413000													36	55					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:48267238G>A	ENST00000302329.3	+	1	631	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000													94	99					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509291	26509291	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:26509291C>T	ENST00000244513.6	+	7	1536	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	490						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGCCCAGGACCTTTCTAAGG	0.547000													27	65					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472825	39472825	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:39472825C>T	ENST00000518318.2	+	7	1218	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	POU6F2_ENST00000559001.1_Silent_p.I337I|POU6F2_ENST00000403058.1_Silent_p.I392I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	392	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAACCAGATCCTGCCCGTGA	0.607000													16	43					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192972	152192972	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152192972C>T	ENST00000368801.2	-	3	1208	c.1133G>A	c.(1132-1134)gGa>gAa	p.G378E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	378					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)			TGACGTAGATCCATGTTGTCC	0.547000													29	118					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032354	46032354	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:46032354C>T	ENST00000334662.2	+	1	359	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	113	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CACCTCCTCCCCCTGCCAACA	0.637000													57	90					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552434	56552434	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56552434C>T	ENST00000390649.3	+	11	2933	c.2933C>T	c.(2932-2934)cCc>cTc	p.P978L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	978						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATGAGGCTTCCCCACTGTAGT	0.532000													64	117					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127668664	127668664	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:127668664G>A	ENST00000508053.1	-	38	5136	c.4162C>T	c.(4162-4164)Cca>Tca	p.P1388S	FBN2_ENST00000262464.4_Missense_Mutation_p.P1388S|FBN2_ENST00000508989.1_Missense_Mutation_p.P1355S|FBN2_ENST00000507835.1_Missense_Mutation_p.P238S			P35556	FBN2_HUMAN	fibrillin 2	1388	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCTTCCTGGGATATTCAGA	0.398000													53	90					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406992	35406992	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:35406992G>A	ENST00000287272.2	+	2	306	c.286G>A	c.(286-288)Gag>Aag	p.E96K	UNC5D_ENST00000453357.2_Missense_Mutation_p.E91K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E96K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E96K|UNC5D_ENST00000420357.1_Missense_Mutation_p.E96K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	96	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCATCAGAACGAGCACGTCTC	0.502000													8	26					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51044299	51044299	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:51044299C>T	ENST00000399908.2	+	6	1979	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	MAPK8IP2_ENST00000442429.2_Silent_p.F409F|MAPK8IP2_ENST00000329492.3_Silent_p.F686F|MAPK8IP2_ENST00000008876.5_Silent_p.F392F|MAPK8IP2_ENST00000399912.1_Silent_p.F421F|MAPK8IP2_ENST00000341339.4_Silent_p.F307F	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	687	Pro-rich.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGTGCAGTTCCTGGGCTCCG	0.677000													4	3					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125941	58125941	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:58125941G>A	ENST00000357377.3	-	1	601	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTAAAACTTGATATAAGAAC	0.368000													8	49					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56520207	56520207	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56520207G>A	ENST00000390649.3	+	3	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCAAGCAAGGAAAAAGTGCC	0.473000													3	17					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35066005	35066005	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:35066005C>T	ENST00000382002.5	-	10	1481	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	PRLR_ENST00000342362.5_Missense_Mutation_p.G251E|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.G251E|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	352					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTCACAGCTCCCCCGGCCTGA	0.498000													17	33					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7984935	7984935	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:7984935G>A	ENST00000328600.2	-	1	269	c.108C>T	c.(106-108)acC>acT	p.T36T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	36	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCAGACAGGGTCATATCCC	0.542000													20	53					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450905	41450905	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:41450905C>T	ENST00000400454.1	-	26	4898		c.e26-1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTGGGGCTCTGGGGGAGAA	0.597000													9	20					0	0	1	0	0
MIR3654	100500804	broad.mit.edu	37	11	62346106	62346106	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:62346106A>G	ENST00000496634.2	-	5	1132	c.1087T>C	c.(1087-1089)Tct>Cct	p.S363P	TUT1_ENST00000308436.7_Missense_Mutation_p.S401P|TUT1_ENST00000476907.1_Missense_Mutation_p.S363P																NS(1)	1						CGCCGGGCAGAGGGCACAGTT	0.572000													34	43					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177093643	177093643	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:177093643C>T	ENST00000393643.2	+	25	3517	c.3265C>T	c.(3265-3267)Cct>Tct	p.P1089S	WDR17_ENST00000507824.2_Missense_Mutation_p.P1088S|WDR17_ENST00000508596.1_Missense_Mutation_p.P1074S|WDR17_ENST00000280190.4_Missense_Mutation_p.P1113S	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1113										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAAAGCCCTTCCTATTGGTAT	0.313000													5	16					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25840015	25840015	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:25840015G>A	ENST00000376351.3	+	6	1873		c.e6+1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158							integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AACTTCACAGGTATATACATT	0.408000													24	58					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154705591	154705591	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:154705591T>C	ENST00000271915.3	-	4	1793	c.1478A>G	c.(1477-1479)aAc>aGc	p.N493S	KCNN3_ENST00000358505.2_Missense_Mutation_p.N180S|KCNN3_ENST00000361147.4_Missense_Mutation_p.N188S	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	498						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ACCCAGAAAGTTACTAGTTAC	0.517000													10	89					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137778284	137778284	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:137778284G>A	ENST00000350339.2	+	6	468	c.454G>A	c.(454-456)Gag>Aag	p.E152K	FCN2_ENST00000291744.6_Missense_Mutation_p.E190K	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	190	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGAACCAGCGAGCTCCGTGT	0.547000													38	33					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496640	24496640	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:24496640G>A	ENST00000284224.8	-	6	1192	c.915C>T	c.(913-915)ttC>ttT	p.F305F	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Silent_p.F305F|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	305					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTGCCTTTCCGAATACTGGAT	0.388000													45	66					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816345	156816345	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:156816345C>T	ENST00000368195.3	-	8	2172	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	592	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGATGGGACTCTGGGCTCCTT	0.597000													5	36					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102160057	102160057	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:102160057C>T	ENST00000299314.7	-	12	1686	c.1424G>A	c.(1423-1425)aGt>aAt	p.S475N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	475	Gly-rich.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AATATAGCGACTCCCTCCACT	0.488000													34	76					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137915	56137915	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:56137915C>T	ENST00000319441.4	+	4	734	c.570C>T	c.(568-570)gtC>gtT	p.V190V	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.V58V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	190					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGGAGTTTGTCAAATGCCTCC	0.512000													24	31					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134671224	134671224	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:134671224G>A	ENST00000368586.5	-	39	5544	c.5444C>T	c.(5443-5445)gCc>gTc	p.A1815V	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	480										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCACCCTGGGCCAGGCCATA	0.502000													7	7					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411561	2411561	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:2411561G>A	ENST00000202625.2	+	12	1916	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	619					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCCATGGTGGGAGTGGCAGT	0.592000													35	103					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97607246	97607246	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:97607246G>A	ENST00000371203.5	+	6	1030	c.443G>A	c.(442-444)gGa>gAa	p.G148E	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.G148E|ENTPD1_ENST00000453258.2_Missense_Mutation_p.G293E|ENTPD1_ENST00000543964.1_Missense_Mutation_p.G178E|ENTPD1_ENST00000371207.3_Missense_Mutation_p.G298E|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.G286E	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	286					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TTTCATCCTGGATATAAGAAG	0.413000													33	28					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946296	72946296	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:72946296C>T	ENST00000311131.2	+	3	1559	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	P2RY2_ENST00000393596.2_Silent_p.S364S|P2RY2_ENST00000393597.2_Silent_p.S364S	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	364					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACAGAGTCCACGCCGGCTG	0.572000													46	55					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9452379	9452379	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9452379C>T	ENST00000393883.2	+	6	900	c.252C>T	c.(250-252)aaC>aaT	p.N84N	ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000538743.1_Silent_p.N4N|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Silent_p.N84N|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.N148N|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGGAGAGAAACCATTTTGGAG	0.348000													21	39					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31904630	31904630	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:31904630G>A	ENST00000396184.3	-	8	880	c.676C>T	c.(676-678)Cct>Tct	p.P226S	PDE1C_ENST00000396193.1_Missense_Mutation_p.P286S|PDE1C_ENST00000321453.7_Missense_Mutation_p.P226S|PDE1C_ENST00000396191.1_Missense_Mutation_p.P226S|PDE1C_ENST00000396182.2_Missense_Mutation_p.P226S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	226	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATGGTAAGGATTTTTGTGC	0.448000													25	46					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301833	77301833	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:77301833G>A	ENST00000341514.6	+	23	4424	c.4269G>A	c.(4267-4269)cgG>cgA	p.R1423R	ATP7A_ENST00000343533.5_Silent_p.R1345R|ATP7A_ENST00000350425.4_Silent_p.R426R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1423					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGCCTGCCCGGAGCCAGATAG	0.433000													57	24					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:44591126C>T	ENST00000421176.3	+	5	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418000													19	33					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907092	164907092	+	Silent	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:164907092T>G	ENST00000475390.1	-	2	1970	c.1527A>C	c.(1525-1527)ctA>ctC	p.L509L	SLITRK3_ENST00000241274.3_Silent_p.L509L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	509						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TATTGAGGAATAGCAGCTTCA	0.502000										HNSCC(40;0.11)			11	46					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366710	21366710	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:21366710C>T	ENST00000311048.7	+	5	1748	c.1604C>T	c.(1603-1605)aCt>aTt	p.T535I	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAAATTCATACTAGACAGAAA	0.323000													27	31					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195162	124195162	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:124195162C>T	ENST00000518448.1	+	2	2080	c.66C>T	c.(64-66)gtC>gtT	p.V22V	FAM83A_ENST00000276699.6_Silent_p.V22V|FAM83A_ENST00000546351.1_Silent_p.V22V|FAM83A_ENST00000522648.1_Silent_p.V22V|FAM83A_ENST00000536633.1_Silent_p.V22V|FAM83A_ENST00000318462.6_Silent_p.V22V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	22										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGGGTCCGGCCAGCCA	0.652000													14	10					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160212	104160212	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:104160212G>A	ENST00000414303.2	+	1	214	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	50					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	TAGCTCCGAAGGGATTTGGAG	0.418000													114	94					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239907	96239907	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:96239907G>A	ENST00000347108.3	-	18	2536	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	DZIP1_ENST00000361156.3_Missense_Mutation_p.P683S|DZIP1_ENST00000361396.2_Missense_Mutation_p.P683S|DZIP1_ENST00000376829.2_Missense_Mutation_p.P702S			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	702					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGCGGCACAGGAAGTGGGCCT	0.562000													21	53					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938428	38938428	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38938428C>T	ENST00000450244.1	-	14	2509	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E771K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E771K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E771K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	771					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACATATTTTCGATCCATTCC	0.473000													26	32					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649221	47649221	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:47649221C>T	ENST00000398742.2	+	5	771	c.722C>T	c.(721-723)tCt>tTt	p.S241F	GPR111_ENST00000507065.1_Missense_Mutation_p.S241F|GPR111_ENST00000296862.1_Missense_Mutation_p.S309F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACTTTTTCTATGAGAATT	0.393000													57	76					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033709	228033709	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:228033709G>A	ENST00000366757.3	+	5	805	c.781G>A	c.(781-783)Gga>Aga	p.G261R		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	261	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTTGCAGATTGGAATTGTGAG	0.507000													15	67					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167038	140167038	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140167038C>T	ENST00000504120.2	+	1	1163	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S388F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S388F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTTGCTCCTTAATGCCC	0.562000													46	75					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70413255	70413255	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:70413255C>T	ENST00000377844.4	-	6	2026	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D230N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	423					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CATTCCAGATCATTCTTAAAT	0.323000													12	47					0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534961	6534961	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:6534961C>T	ENST00000245817.3	+	3	687	c.649C>T	c.(649-651)Cac>Tac	p.H217Y		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	217					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CGTCCATCTTCACACTGAGGC	0.682000													5	22					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924959	55924959	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55924959G>A	ENST00000244728.5	-	28	2862	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	COL21A1_ENST00000370808.2_Intron|COL21A1_ENST00000535941.1_Missense_Mutation_p.S822F|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.S819F	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	822					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCATGTTGGGACAGGCAATG	0.498000													7	18					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745696	54745696	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:54745696C>T	ENST00000440558.2	-	4	462	c.414G>A	c.(412-414)ggG>ggA	p.G138G	LILRA6_ENST00000270464.5_Silent_p.G138G|LILRA6_ENST00000245621.5_Silent_p.G138G|LILRA6_ENST00000419410.2_Silent_p.G138G|LILRA6_ENST00000396365.2_Silent_p.G138G|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Silent_p.G138G					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCATATTCCCCCCTGAGG	0.567000													23	84					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887489	23887489	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:23887489C>T	ENST00000355349.3	-	30	4261	c.4099G>A	c.(4099-4101)Gag>Aag	p.E1367K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1367					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGGCCACCTCCGAGTTGGCC	0.642000													31	77					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726730	25726730	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:25726730C>T	ENST00000297012.3	-	1	60	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	9					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCGTGCTTTTCCTCCCTGCTT	0.522000													41	61					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78221940	78221940	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:78221940C>T	ENST00000361193.3	+	14	1586	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	SLC26A11_ENST00000572725.1_Silent_p.L436L|SLC26A11_ENST00000411502.3_Silent_p.L436L|SLC26A11_ENST00000546047.2_Silent_p.L436L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	436						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGGACCTGCTGCCCCTGTG	0.667000													12	13					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134086557	134086557	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:134086557G>A	ENST00000514516.1	-	3	1175	c.997C>T	c.(997-999)Cca>Tca	p.P333S	AMOTL2_ENST00000513145.1_Missense_Mutation_p.P275S|AMOTL2_ENST00000249883.5_Missense_Mutation_p.P275S|AMOTL2_ENST00000422605.2_Missense_Mutation_p.P275S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	275										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATGTGGGGGAGGGGGG	0.657000													14	19					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89658686	89658686	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:89658686C>T	ENST00000264344.5	-	21	2790	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000513837.1_Silent_p.R507R|FAM13A_ENST00000511976.1_Silent_p.R447R|FAM13A_ENST00000503556.1_Silent_p.R521R|FAM13A_ENST00000508369.1_Silent_p.R535R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	861					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGGGCTTCTCCGCTTGCTGG	0.537000													11	41					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165763	166165763	+	Missense_Mutation	SNP	C	C	T	rs2228981		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:166165763C>T	ENST00000357398.3	+	6	984	c.694C>T	c.(694-696)Cca>Tca	p.P232S	SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.P232S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	232					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCTGTAATTCCAGGTAAGAA	0.373000													11	23					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775791	24775791	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24775791G>A	ENST00000221166.5	+	3	3205	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	NEFM_ENST00000433454.2_Missense_Mutation_p.G432E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.G769E|NEFM_ENST00000518131.1_Missense_Mutation_p.G590E			P07197	NFM_HUMAN	neurofilament, medium polypeptide	808	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggtagaaggaaaagaggag	0.532000													7	13					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109356974	109356974	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:109356974C>T	ENST00000283195.6	+	7	938	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	271					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTGTGAAATCTTTGGGTGGA	0.348000													98	135					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421780	115421780	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:115421780C>T	ENST00000337530.6	+	4	1878	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R556C	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	528										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CGCGCGTTCTCGCAACATCGT	0.572000													7	8					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862116	108862116	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:108862116G>A	ENST00000356922.4	-	2	1773	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y	LIG4_ENST00000405925.1_Missense_Mutation_p.H501Y|LIG4_ENST00000442234.1_Missense_Mutation_p.H501Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	501					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GAGAGAGTATGAAACACAGAT	0.473000								Non-homologous end-joining					93	87					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2966271	2966271	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:2966271C>T	ENST00000602557.1	-	45	7167		c.e45-1		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGACCGTCCCTAGGAAAGAC	0.443000													7	18					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473448	19473448	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:19473448C>T	ENST00000507958.1	-	15	3250	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.D754N|CDH18_ENST00000382275.1_Missense_Mutation_p.D754N			Q13634	CAD18_HUMAN	cadherin 18, type 2	754					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTTGCTGAATCCAGCGAGCTG	0.478000													28	50					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700683	55700683	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55700683A>G	ENST00000373965.2	-	25	3590	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1066P|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1059P|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1059P|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1037P|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1059P|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1059P|PCDH15_ENST00000437009.1_Missense_Mutation_p.S988P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1022P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S670P|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1064P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1059	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGCAGCAGAAATTACACCA	0.368000										HNSCC(58;0.16)			20	31					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306575	14306575	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:14306575A>T	ENST00000378053.3	-	2	1834	c.1578T>A	c.(1576-1578)aaT>aaA	p.N526K	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N526K	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	526					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CCAAAGGTAAATTGGGGTTTT	0.468000													14	77					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39603995	39603995	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:39603995C>T	ENST00000265708.4	-	19	2273	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ADAM2_ENST00000521880.1_Missense_Mutation_p.D661N|ADAM2_ENST00000347580.4_Missense_Mutation_p.D705N|ADAM2_ENST00000379853.2_Missense_Mutation_p.D568N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	724					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATATACTCATCGCTTGAATAG	0.269000													16	32					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129470208	129470208	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:129470208G>A	ENST00000421865.2	+	7	1043	c.994G>A	c.(994-996)Gct>Act	p.A332T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	332	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCCTGGAGAGCTGGAACTTT	0.403000													21	42					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729167	22729167	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:22729167G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGAGTGATAGGCTTCTGTTT	0.448000													80	132					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175246	112175246	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:112175246C>T	ENST00000457016.1	+	16	4335	c.3955C>T	c.(3955-3957)Cct>Tct	p.P1319S	APC_ENST00000257430.4_Missense_Mutation_p.P1319S|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1319S			P25054	APC_HUMAN	adenomatous polyposis coli	1319	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.P1319fs*2(1)|p.P1319T(1)|p.K1192fs*3(1)|p.?(1)|p.A1316fs*9(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCTGAAGATCCTGTGAGCGA	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			18	33					0	0	1	0	0
C16orf82	162083	broad.mit.edu	37	16	27078198	27078198	+	RNA	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:27078198T>C	ENST00000505035.1	+	0	171							Q7Z2V1	TNT_HUMAN																			CCCATCACCATGGGAACTGAG	0.577000													23	21					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544403	115544403	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:115544403C>T	ENST00000310836.6	+	2	889	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	UGT8_ENST00000394511.3_Silent_p.L123L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	123					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAACCATGCCCTGATCCAGGG	0.428000													42	45					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983262	12983262	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:12983262G>A	ENST00000273221.4	-	2	385	c.169C>T	c.(169-171)Cac>Tac	p.H57Y	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	57					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCTCGTAGTGATCCGGGCTC	0.692000													13	21					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085329	5085329	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:5085329G>A	ENST00000399604.4	-	1	2363	c.2223C>T	c.(2221-2223)acC>acT	p.T741T	ZNF594_ENST00000575779.1_Silent_p.T741T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTTGCTGAAGGTTTTCTCAC	0.443000													69	139					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351580	43351580	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43351580G>A	ENST00000344686.2	-	0	1567							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGGTCCTCTGGGAGACAGCCC	0.622000													6	4					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470877	79470877	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:79470877G>A	ENST00000370742.3	-	2	113	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	17					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGAGTATAGGAACAATTCAA	0.343000													20	13					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100524	110100524	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:110100524G>A	ENST00000518632.1	+	2	1134	c.783G>A	c.(781-783)agG>agA	p.R261R	TRHR_ENST00000311762.2_Silent_p.R261R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	261						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TATCTTCAAGGAAGCAGGTAA	0.383000													9	24					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715586	165715586	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:165715586C>T	ENST00000230301.8	-	2	245	c.225G>A	c.(223-225)acG>acA	p.T75T	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	75										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTGTAAGATCGTCTCCGGAG	0.617000													24	66					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64491657	64491657	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:64491657G>A	ENST00000358025.3	+	40	6098	c.5868G>A	c.(5866-5868)agG>agA	p.R1956R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.R1956R|SYNE2_ENST00000344113.4_Silent_p.R1956R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1956					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAACCTGAGGAAGTGGTTGA	0.383000													22	32					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71142303	71142303	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:71142303C>T	ENST00000448642.2	+	15	1820	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HK1_ENST00000404387.2_Silent_p.F446F|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Silent_p.F430F|HK1_ENST00000359426.6_Silent_p.F442F|HK1_ENST00000298649.3_Silent_p.F441F			P19367	HXK1_HUMAN	hexokinase 1	442	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGTGCGCTTCCTCCTCTCGG	0.637000													34	51					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74420524	74420524	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:74420524C>G	ENST00000263665.6	-	5	508	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	161	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GATGGGTATTCATTGAAGATC	0.388000													15	26					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023391	28023391	+	Missense_Mutation	SNP	G	G	A	rs138096382		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:28023391G>A	ENST00000375790.5	-	5	1264	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MKX_ENST00000419761.1_Missense_Mutation_p.R278C			Q8IYA7	MKX_HUMAN	mohawk homeobox	278					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTACCTGTGCGATAGACAAAG	0.393000													32	67					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7808049	7808049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:7808049C>T	ENST00000315599.7	-	7	1113	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	CD209_ENST00000593821.1_Nonsense_Mutation_p.W228*|CD209_ENST00000354397.6_Nonsense_Mutation_p.W358*|CD209_ENST00000601951.1_Nonsense_Mutation_p.W340*|CD209_ENST00000204801.8_Nonsense_Mutation_p.W320*|CD209_ENST00000394161.5_Nonsense_Mutation_p.W128*|CD209_ENST00000315591.8_Nonsense_Mutation_p.W340*|CD209_ENST00000394173.4_Nonsense_Mutation_p.W203*|CD209_ENST00000602261.1_Nonsense_Mutation_p.W272*|CD209_ENST00000593660.1_Nonsense_Mutation_p.W294*|CD209_ENST00000301357.8_Nonsense_Mutation_p.W228*	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	364	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTCGTCGTTCCAGCCATTGCC	0.517000													104	194					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35888275	35888275	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:35888275G>A	ENST00000373825.2	-	2	329	c.44C>T	c.(43-45)aCc>aTc	p.T15I	SRPK1_ENST00000423325.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	15					cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTTGGCCTTGGTCCTTTTCTT	0.547000													57	99					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101730087	101730087	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:101730087G>A	ENST00000318607.5	-	3	1545	c.417C>T	c.(415-417)ggC>ggT	p.G139G	PABPC1_ENST00000519004.1_Silent_p.G94G|PABPC1_ENST00000522387.1_Silent_p.G107G	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	139	RRM 2.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAAATCCATAGCCCTTGGAAC	0.348000													24	39					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161200594	161200594	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:161200594C>T	ENST00000506209.1	-	7	981	c.839G>A	c.(838-840)gGg>gAg	p.G280E	NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000367983.4_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTCAGTGTCCCACCGTACCG	0.537000													23	45					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168441	49168441	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:49168441C>T	ENST00000340334.7	-	20	2443	c.2075G>A	c.(2074-2076)gGa>gAa	p.G692E	FOLH1_ENST00000256999.2_Missense_Mutation_p.G707E|FOLH1_ENST00000343844.4_Missense_Mutation_p.G399E|FOLH1_ENST00000533034.1_Missense_Mutation_p.G661E|FOLH1_ENST00000356696.3_Missense_Mutation_p.G676E	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	707					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCATAAATTCCTGGGAATGA	0.443000													34	35					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881284	39881284	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:39881284G>T	ENST00000393939.2	-	10	1463	c.1454C>A	c.(1453-1455)cCc>cAc	p.P485H	HAP1_ENST00000341193.5_Missense_Mutation_p.P493H|HAP1_ENST00000347901.4_Missense_Mutation_p.P510H|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Missense_Mutation_p.P562H			P54257	HAP1_HUMAN	huntingtin-associated protein 1	538	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.P510L(1)|p.P510H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCTCCTGGGGCACGAACTC	0.637000													143	231					4.48024e-70	4.54672e-70	1	1	0
KDR	3791	broad.mit.edu	37	4	55961006	55961006	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:55961006C>T	ENST00000263923.4	-	21	3229	c.2934G>A	c.(2932-2934)gtG>gtA	p.V978V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	978	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTCTCCTCCACAAATCCAG	0.532000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	87					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47951087	47951087	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:47951087T>A	ENST00000236877.6	-	4	2137	c.1742A>T	c.(1741-1743)gAg>gTg	p.E581V	SLC8A2_ENST00000539381.1_Missense_Mutation_p.E44V|SLC8A2_ENST00000542837.1_Missense_Mutation_p.E337V	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	581	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTCGCCAAACTCCAGCTCTCC	0.746000													5	10					0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53449621	53449621	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:53449621C>T	ENST00000314250.6	+	10	1043	c.753C>T	c.(751-753)atC>atT	p.I251I	TENC1_ENST00000451358.1_Silent_p.I251I|TENC1_ENST00000552570.1_Silent_p.I251I|TENC1_ENST00000546602.1_Silent_p.I251I|TENC1_ENST00000314276.3_Silent_p.I261I|TENC1_ENST00000549700.1_Silent_p.I251I|TENC1_ENST00000379902.3_Silent_p.I127I	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	251	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						ACAGCAAGATCTCTGCAGGGT	0.597000													51	35					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23240327	23240327	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:23240327C>T	ENST00000258742.5	+	7	1494	c.1235C>T	c.(1234-1236)cCa>cTa	p.P412L		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	412	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAAAATTCCATTAAAGCCT	0.318000													29	44					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21883801	21883801	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:21883801C>T	ENST00000399982.2	-	6	1964	c.1899_splice	c.e6-1	p.E634_splice	CHD8_ENST00000557364.1_Splice_Site_p.E634_splice|CHD8_ENST00000430710.3_Splice_Site_p.E355_splice|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	634					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGGATTCTCCTGCAGCAAA	0.398000													20	33					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314596	46314596	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:46314596C>T	ENST00000510861.1	-	5	566	c.393G>A	c.(391-393)ggG>ggA	p.G131G	GABRA2_ENST00000507069.1_Silent_p.G131G|GABRA2_ENST00000540012.1_Silent_p.G76G|GABRA2_ENST00000515082.1_Silent_p.G131G|GABRA2_ENST00000514090.1_Silent_p.G131G|GABRA2_ENST00000381620.4_Silent_p.G131G|GABRA2_ENST00000356504.1_Silent_p.G131G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	131					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGATTTTTTCCCATTGTGAA	0.348000													26	39					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086702	144086702	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:144086702C>T	ENST00000427704.2	+	6	1096	c.966C>T	c.(964-966)tcC>tcT	p.S322S	PHACTR2_ENST00000367584.4_Silent_p.S310S|PHACTR2_ENST00000367582.3_Silent_p.S253S|PHACTR2_ENST00000305766.6_Silent_p.S242S|PHACTR2_ENST00000440869.2_Silent_p.S333S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	322							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AATTCAAGTCCATGGTCCCTC	0.572000													20	31					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516904	157516904	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:157516904C>T	ENST00000361835.3	-	3	293	c.136G>A	c.(136-138)Gga>Aga	p.G46R	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Missense_Mutation_p.G46R|FCRL5_ENST00000356953.4_Missense_Mutation_p.G46R|FCRL5_ENST00000368188.2_Missense_Mutation_p.G46R|FCRL5_ENST00000368189.3_Missense_Mutation_p.G46R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	46	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AAGCGAAATCCCTTGCAAGTG	0.473000													50	98					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739525	55739525	+	Missense_Mutation	SNP	C	C	T	rs144695858		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55739525C>T	ENST00000370830.3	-	1	837	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	BMP5_ENST00000446683.2_Missense_Mutation_p.E47K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	47					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCGTCTTTCGTGGTTCCGT	0.453000													47	79					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3732016	3732016	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:3732016G>A	ENST00000378230.3	-	22	3052	c.2728C>T	c.(2728-2730)Ccg>Tcg	p.P910S		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	910						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCGCCCTTCGGGGTGGGGATC	0.647000													4	15					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357355	36357355	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:36357355C>T	ENST00000360202.5	+	15	2286	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000592409.1_Silent_p.F661F|KIRREL2_ENST00000586102.2_Silent_p.F676F|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	696	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCTGCCTTCCCCACACCTA	0.567000													57	92					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97981389	97981389	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:97981389G>A	ENST00000370192.3	-	13	1733	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	545					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGACCAAAAGGATTTATAAAC	0.458000													9	37					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152073	58152073	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:58152073C>T	ENST00000266643.5	+	3	1127	c.696C>T	c.(694-696)gtC>gtT	p.V232V	MARCH9_ENST00000548358.1_Silent_p.V119V	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	232						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCATGGATGTCGTCTGCATAG	0.527000													19	20					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079940	29079940	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:29079940G>A	ENST00000377169.1	+	1	273	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P91P(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTGGGGCCCGGAAAAGACCA	0.483000													57	118					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51129186	51129186	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:51129186T>C	ENST00000338916.4	-	5	2003	c.1370A>G	c.(1369-1371)aAc>aGc	p.N457S	SYT3_ENST00000593901.1_Missense_Mutation_p.N457S|SYT3_ENST00000544769.1_Missense_Mutation_p.N457S|SYT3_ENST00000600079.1_Missense_Mutation_p.N457S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	457	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGCTTTGAGGTTAGAGGCTTT	0.622000													14	24					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220273854	220273854	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:220273854G>A	ENST00000366922.1	+	3	528	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	IARS2_ENST00000302637.5_Missense_Mutation_p.R138Q			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	138					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATAGCCAATCGATTCCATATG	0.328000													20	16					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523975	38523975	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38523975C>T	ENST00000352511.3	+	10	1740	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	423	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CAGCACCCTTCGTTGGAGGAG	0.552000													5	24					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080603	42080603	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:42080603G>C	ENST00000400454.1	-	2	615	c.138C>G	c.(136-138)tgC>tgG	p.C46W		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	46	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCTGCGGGGCAGGGCACCA	0.587000													49	109					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6742981	6742981	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:6742981C>T	ENST00000313244.9	+	4	236	c.201C>T	c.(199-201)ttC>ttT	p.F67F	TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Silent_p.F67F|TRIP10_ENST00000596758.1_Silent_p.F67F			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	67	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACCCCAGATTCAGCCAGCAAC	0.582000													20	58					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512910	41512910	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:41512910C>T	ENST00000324071.4	+	4	592	c.585C>T	c.(583-585)ttC>ttT	p.F195F	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	195					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ATCAAGAGTTCCTGAAGATGC	0.532000													49	62					0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752581	43752581	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:43752581C>T	ENST00000372785.3	-	3	259	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	81					defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				atccttgtttcctcctttgga	0.547000													6	9					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869592	4869592	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:4869592G>A	ENST00000322101.2	-	1	922	c.847C>T	c.(847-849)Cta>Tta	p.L283L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATAGGATAGAAGAGTATGG	0.448000													38	68					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000													31	31					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177225096	177225096	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:177225096G>A	ENST00000361539.4	+	3	623	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		104						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCTGGAAAGGAAGGACTTC	0.493000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					0	0	1	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108956	90108956	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:90108956C>T	ENST00000390271.2	+	0	247																											GCTTCCCAGTCCATCTCAGGG	0.507000													16	59					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969735	118969735	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:118969735C>A	ENST00000515256.1	+	3	464	c.292C>A	c.(292-294)Cgc>Agc	p.R98S				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GACTCCTCCCCGCTCACAACA	0.478000													20	31					1.33834e-09	1.34709e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179641269G>A	ENST00000589042.1	-	28	5546	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	TTN_ENST00000342992.6_Silent_p.I1774I|TTN_ENST00000360870.5_Silent_p.I1774I|TTN_ENST00000460472.2_Silent_p.I1728I|TTN_ENST00000359218.5_Silent_p.I1728I|TTN_ENST00000591111.1_Silent_p.I1774I|TTN_ENST00000342175.6_Silent_p.I1728I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1527	Ig-like 8.						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)			TGCAAGTAATGATACCACTGT	0.423000													30	26					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36004293	36004293	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:36004293C>T	ENST00000339686.3	-	1	261	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	DMKN_ENST00000419602.1_Missense_Mutation_p.E29K|DMKN_ENST00000429837.1_Missense_Mutation_p.E29K|DMKN_ENST00000451297.2_Missense_Mutation_p.E29K|DMKN_ENST00000424570.2_Missense_Mutation_p.E29K|DMKN_ENST00000440396.1_Missense_Mutation_p.E29K|DMKN_ENST00000447113.2_Missense_Mutation_p.E29K|DMKN_ENST00000418261.1_Missense_Mutation_p.E29K	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	29	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAGTGCTTTCCTCTCCGCTC	0.672000													25	44					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428839	43428839	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43428839G>A	ENST00000406070.2	-	0	1477					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				caggtacaaggattttcccat	0.423000													8	33					0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785307	134785307	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:134785307G>A	ENST00000537858.1	-	2	523	c.323C>T	c.(322-324)tCa>tTa	p.S108L		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	108										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGATGCCTGAGAAGGAGAC	0.577000													58	127					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480405	140480405	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140480405G>A	ENST00000231130.2	+	1	172	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		58	Cadherin 1.				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)			AAGGGTAGAGGAACTGGCCGC	0.498000													23	50					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51993369	51993369	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:51993369G>A	ENST00000220478.3	+	10	1538	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	SCG3_ENST00000542355.2_Missense_Mutation_p.E147K	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	379					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GATGGAAAAGGAATATGGAAG	0.433000													19	82					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247081569	247081569	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247081569C>T	ENST00000366508.1	-	2	345	c.209G>A	c.(208-210)cGt>cAt	p.R70H	AHCTF1_ENST00000391829.2_Missense_Mutation_p.R35H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R44H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	35	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACTTTCCACGAAGCACAGA	0.343000													5	40					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121053	104121053	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:104121053C>T	ENST00000388887.2	+	47	5064	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1620	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F1620F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGCATTTCGTGAAAGATC	0.512000													105	204					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151597692	151597692	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:151597692C>T	ENST00000362032.4	+	2	117	c.12C>T	c.(10-12)atC>atT	p.I4I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	4						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGCTGGGGATCATGGTATGTT	0.333000													10	20					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854028	122854028	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:122854028G>A	ENST00000264811.5	-	1	584	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TRPC3_ENST00000513531.1_Missense_Mutation_p.R56C|TRPC3_ENST00000379645.3_Missense_Mutation_p.R129C	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	44					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCATCTTGCGCACCACTGGG	0.647000													8	42					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23549013	23549013	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:23549013C>T	ENST00000376979.3	-	1	373	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	25						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGCATAGATCAGCAGGATCT	0.567000													11	15					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7627961	7627961	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:7627961G>A	ENST00000256861.6	-	8	1089	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.S119S|ITIH5_ENST00000298441.6_Silent_p.S123S|ITIH5_ENST00000397145.2_Silent_p.S337S|ITIH5_ENST00000397146.2_Silent_p.S337S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	337	VWFA.			S -> P (in Ref. 3; BAB55070).	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGATCCGGTTGGAAAATCCAA	0.473000													16	42					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179554672	179554672	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:179554672C>T	ENST00000393371.2	-	5	947	c.651G>A	c.(649-651)cgG>cgA	p.R217R	RASGEF1C_ENST00000361132.4_Silent_p.R217R|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Silent_p.R66R			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	217	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCGATGTGCCGCAGCCGCT	0.622000													13	17					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179883	124179883	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:124179883G>A	ENST00000357821.2	-	1	850	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGGGGGCTTGAAATACATGA	0.502000													29	14					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16900017	16900017	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:16900017C>T	ENST00000502640.1	-	1	240	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LDB2_ENST00000515064.1_Missense_Mutation_p.R31Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R31Q|LDB2_ENST00000304523.5_Missense_Mutation_p.R31Q			O43679	LDB2_HUMAN	LIM domain binding 2	31							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTCATAGATTCGGTACTCTGG	0.453000													16	46					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46265035	46265035	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:46265035C>T	ENST00000372004.3	+	12	2121	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	NCOA3_ENST00000371998.3_Silent_p.S635S|NCOA3_ENST00000371997.3_Silent_p.S645S|NCOA3_ENST00000341724.6_Silent_p.S645S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	635	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGGTCATTCCTCCTTGACCA	0.473000													17	48					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241106	3241106	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:3241106G>A	ENST00000217939.6	-	5	2774	c.2620C>T	c.(2620-2622)Ctt>Ttt	p.L874F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	874						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCAACAAGAATAACTCCA	0.473000													30	12					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50742344	50742344	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:50742344C>T	ENST00000403097.1	-	5	913	c.133G>A	c.(133-135)Gac>Aac	p.D45N	GRB10_ENST00000406641.1_5'UTR|GRB10_ENST00000407526.1_5'UTR|GRB10_ENST00000439599.1_Missense_Mutation_p.D45N|GRB10_ENST00000398812.2_Missense_Mutation_p.D51N|GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000402497.1_5'UTR|GRB10_ENST00000402578.1_5'UTR|GRB10_ENST00000357271.5_Missense_Mutation_p.D51N|GRB10_ENST00000401949.1_Missense_Mutation_p.D51N|GRB10_ENST00000335866.3_5'UTR			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	51					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTTCCAGGTCCACATCATCC	0.493000									Russell-Silver syndrome				16	30					0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085482	3085482	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3085482C>T	ENST00000572449.1	-	2	78	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.G6R			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	6										breast(1)|endometrium(2)|large_intestine(1)	4						AAGCTGGGCCCATCTGGAGAG	0.682000													9	39					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091798	30091798	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:30091798C>A	ENST00000380752.5	-	10	1808	c.1422G>T	c.(1420-1422)atG>atT	p.M474I	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	474					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAAAGAGAACATCTCTGCCT	0.458000													52	118					1.11015e-26	1.12477e-26	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102153921	102153921	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:102153921C>T	ENST00000299314.7	-	16	3398	c.3135_splice	c.e16-1	p.D1046_splice		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1046					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTGTCAAATCCTAACAAAGA	0.323000													25	57					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105936	72105936	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:72105936G>A	ENST00000398840.2	+	0	1144							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGACCCCCACGGAGTTTGCCT	0.602000													19	12					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626719	108626719	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:108626719G>A	ENST00000264047.2	+	9	1421	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	SLC5A7_ENST00000540517.1_Missense_Mutation_p.R277Q|SLC5A7_ENST00000409059.1_Missense_Mutation_p.R382Q	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	382					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGTTATGCGAATCACAGTG	0.453000													13	49					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156192	151156192	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:151156192C>T	ENST00000282466.3	-	6	6156	c.6157G>A	c.(6157-6159)Ggg>Agg	p.G2053R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2053	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATCTTTCCCATGGAGCACT	0.438000													35	63					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463970	247463970	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247463970G>A	ENST00000294753.4	-	9	2079	c.1615C>T	c.(1615-1617)Cgg>Tgg	p.R539W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R575W|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	539					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCGGTGCCGAGCCAGGTGG	0.612000													20	95					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11116706	11116706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:11116706G>A	ENST00000376957.2	-	4	570	c.490C>T	c.(490-492)Cag>Tag	p.Q164*		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	164					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	AAGGCATCCTGATTCTGTTTC	0.547000													14	30					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561484	84561484	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:84561484G>A	ENST00000286744.5	+	13	1535	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	ADAMTSL3_ENST00000567476.1_Silent_p.G437G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	437	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGGAGGAGGGATTCAGAGAC	0.418000													12	13					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903959	70903959	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:70903959G>A	ENST00000264436.3	-	13	2006	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_ENST00000407644.2_Missense_Mutation_p.A521V|ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	521					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AATGACGCTCGCCAGGAGCTG	0.602000													24	35					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120188029	120188029	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:120188029C>T	ENST00000260264.4	+	12	1267	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	POU2F3_ENST00000543440.2_Silent_p.N409N	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	409	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTCAAAATAACTCCAAAGCAG	0.547000													42	51					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514603	118514603	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:118514603C>T	ENST00000361417.2	+	15	3374	c.2963C>T	c.(2962-2964)tCc>tTc	p.S988F	PHLDB1_ENST00000524713.1_Missense_Mutation_p.S131F|PHLDB1_ENST00000527898.1_Missense_Mutation_p.S24F|PHLDB1_ENST00000356063.5_Missense_Mutation_p.S941F|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	988										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		tctggctcttcctcctcctcc	0.657000													10	26					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806797	54806797	+	Missense_Mutation	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54806797A>T	ENST00000306858.7	+	5	3144	c.3028A>T	c.(3028-3030)Aat>Tat	p.N1010Y		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1010										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATACACAAAAATAAATAGCT	0.318000													12	15					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220166912	220166912	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:220166912T>G	ENST00000295718.2	-	6	1181	c.941A>C	c.(940-942)aAg>aCg	p.K314T	PTPRN_ENST00000409251.3_Missense_Mutation_p.K314T|PTPRN_ENST00000423636.2_Missense_Mutation_p.K224T|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	314					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TAGTCCTTCCTTCTCATAGCC	0.642000													38	18					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043915	180043915	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:180043915G>A	ENST00000261937.6	-	22	3159	c.3081C>T	c.(3079-3081)ttC>ttT	p.F1027F	FLT4_ENST00000393347.3_Silent_p.F1027F|FLT4_ENST00000502649.1_Silent_p.F1027F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1027	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGAAGCCAGGAACTCCATCC	0.602000													34	45					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93264164	93264164	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:93264164A>G	ENST00000163416.2	+	2	638	c.382A>G	c.(382-384)Aat>Gat	p.N128D	GOLGA5_ENST00000355976.2_Missense_Mutation_p.N128D	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	128					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGATTTTCTTAATAGTTCACA	0.438000			T	RET	papillary thyroid								29	38					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731779	57731779	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:57731779C>T	ENST00000281282.5	+	2	1660	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	528	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAAGACATTTCCTTCGGCCTC	0.453000													11	13					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997755	38997755	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:38997755G>A	ENST00000400482.3	-	4	1567	c.978C>T	c.(976-978)atC>atT	p.I326I	KCNJ6_ENST00000288309.6_Silent_p.I326I	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	326					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCACTGGTGATGTAGGAGC	0.517000													20	37					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590125	590125	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:590125G>A	ENST00000406797.1	-	11	1262	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.S363F|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.S363F|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.S363F|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.S363F	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	363					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GAGGATCTCAGAGCAGGGCCC	0.667000													6	13					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460216	107460216	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:107460216C>T	ENST00000409382.3	-	2	828	c.218G>A	c.(217-219)gGc>gAc	p.G73D	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G73D|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G73D	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	73					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCGTCCAGGCCCCCAGGCGG	0.701000													17	23					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548834	17548834	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:17548834G>A	ENST00000005226.7	-	5	431	c.432C>T	c.(430-432)tcC>tcT	p.S144S	USH1C_ENST00000527720.1_Silent_p.S113S|USH1C_ENST00000318024.4_Silent_p.S144S|USH1C_ENST00000527020.1_Silent_p.S144S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	144	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATGGGTACAGGAGGAGATGG	0.547000													11	56					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120386040	120386040	+	Silent	SNP	G	G	A	rs142262674		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:120386040G>A	ENST00000331113.4	+	5	2639	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	558					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AACTCAGCACGATTCAGATCA	0.463000													20	29					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16319956	16319956	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:16319956T>C	ENST00000291439.3	+	5	963	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	AP1M1_ENST00000429941.2_Missense_Mutation_p.F172L|AP1M1_ENST00000444449.2_Missense_Mutation_p.F172L|AP1M1_ENST00000590756.1_Missense_Mutation_p.F100L|AP1M1_ENST00000541844.1_Missense_Mutation_p.F100L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	172	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAATGAGGTGTTCTTGGACGT	0.527000													47	69					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642031	127642031	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:127642031C>T	ENST00000405109.1	+	2	594	c.127C>T	c.(127-129)Cct>Tct	p.P43S	KBTBD12_ENST00000405256.1_Missense_Mutation_p.P43S|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	43	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGAGAAATTTCCTTGCCACAG	0.368000													19	35					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315705	50315705	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50315705C>T	ENST00000332853.3	-	2	414	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VSTM4_ENST00000298454.3_Missense_Mutation_p.E131K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	131	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGCTGATTTCCTGGACTCTG	0.617000													31	43					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38288848	38288848	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:38288848C>T	ENST00000436911.2	-	0	325																											ACATACCTGTCTTTATTGGAG	0.338000													9	16					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48383552	48383552	+	Missense_Mutation	SNP	C	C	T	rs121912871		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:48383552C>T	ENST00000380518.3	-	17	1224	c.1060G>A	c.(1060-1062)Ggg>Agg	p.G354R	COL2A1_ENST00000337299.6_Missense_Mutation_p.G285R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	354	Triple-helical region.		G -> R (in spondylometaphyseal dysplasia; congenital type).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCGGAGGCCCTGCGGGGCCT	0.592000													44	35					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004609	18004609	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:18004609G>A	ENST00000222248.3	+	15	2202	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	619					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGGGCAGAAGGAGCTGGAGGG	0.597000													6	8					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14622740	14622740	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:14622740G>A	ENST00000403951.2	-	18	1878	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	DGKB_ENST00000399322.3_Missense_Mutation_p.P487S|DGKB_ENST00000258767.5_Missense_Mutation_p.P487S|DGKB_ENST00000444700.2_Missense_Mutation_p.P468S|DGKB_ENST00000402815.1_Missense_Mutation_p.P486S|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.P479S|DGKB_ENST00000406247.3_Missense_Mutation_p.P487S			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	487	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTGAAGTCAGGAACATCACGG	0.373000													8	14					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35504489	35504489	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:35504489C>T	ENST00000599564.1	+	10	1096	c.1025C>T	c.(1024-1026)aCc>aTc	p.T342I	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T248I|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.T21I|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.T255I			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	255						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCGACATCACCTCCTCGGGG	0.652000													22	34					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668485	53668485	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:53668485G>A	ENST00000600412.1	-	2	1178	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H420Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTCTTCGATGATTTGCTAAG	0.403000													22	34					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940558	113940558	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:113940558G>A	ENST00000245796.6	+	2	720	c.525G>A	c.(523-525)gaG>gaA	p.E175E	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.E175E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	175					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGCTGGAGAAGACGGAAG	0.637000													16	57					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003911	93003911	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:93003911C>T	ENST00000523629.1	-	7	1401	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R316Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R279Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R279Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R279Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R289Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R289Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R327Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	316					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTGGGGTGTCGATAGGAGTC	0.552000													52	92					0	0	1	0	0
ZNF821	55565	broad.mit.edu	37	16	71898050	71898050	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:71898050G>C	ENST00000425432.1	-	6	787	c.408C>G	c.(406-408)caC>caG	p.H136Q	ZNF821_ENST00000564134.1_Missense_Mutation_p.H135Q|ZNF821_ENST00000565601.1_Missense_Mutation_p.H136Q|RP11-498D10.4_ENST00000569119.1_Intron|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.H94Q|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.H94Q	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCTGGTACACGTGAGCAATCA	0.562000													27	84					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170338053	170338053	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:170338053C>T	ENST00000523189.1	+	7	839	c.675C>T	c.(673-675)tgC>tgT	p.C225C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	225					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTTAACTGCCTTAACTTTG	0.383000			T	TRD@	ALL								15	8					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585619	82585619	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:82585619C>T	ENST00000423517.2	-	5	4987	c.4650G>A	c.(4648-4650)ggG>ggA	p.G1550G	PCLO_ENST00000333891.8_Silent_p.G1550G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1481					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCCTCTTCCCCTGATCCTT	0.418000													11	44					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869973	151869973	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:151869973C>T	ENST00000329342.5	+	3	888	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	221	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGAAAATCTGGGAGGAGC	0.517000													109	41					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109816600	109816600	+	Missense_Mutation	SNP	G	G	A	rs147982272		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:109816600G>A	ENST00000424296.2	-	39	5435	c.5359C>T	c.(5359-5361)Ccc>Tcc	p.P1787S	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9									p.P186S(1)									CTTAATGGGGGAAGCTTGTGT	0.383000													24	46					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369258	78369258	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:78369258C>T	ENST00000278550.7	-	34	8617	c.8155G>A	c.(8155-8157)Gcc>Acc	p.A2719T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TCTGTCCAGGCCCGCAGGCCT	0.667000													21	61					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139190844	139190844	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:139190844G>A	ENST00000395297.1	-	10	1133	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	321										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTGTCCAGGAACTGGGTCC	0.537000										HNSCC(54;0.14)			25	33					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35624492	35624492	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:35624492G>A	ENST00000540320.1	+	6	1466	c.932G>A	c.(931-933)gGt>gAt	p.G311D	NBEA_ENST00000400445.3_Missense_Mutation_p.G311D|NBEA_ENST00000310336.4_Missense_Mutation_p.G311D|NBEA_ENST00000379939.2_Missense_Mutation_p.G311D			Q8NFP9	NBEA_HUMAN	neurobeachin	311						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAGGAAAAGGTTTTCAGCAT	0.348000													7	21					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270602	113270602	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:113270602G>A	ENST00000303941.3	+	8	2005	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	637							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CACGCCACGGGGAGGAGGCGG	0.637000													10	14					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966275	2966275	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:2966275G>A	ENST00000575751.1	-	1	626	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						ACCCTAAGGGGGTGAGGAAGA	0.488000													15	39					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2788828	2788828	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:2788828C>T	ENST00000399655.1	+	42	5575	c.5310C>T	c.(5308-5310)gcC>gcT	p.A1770A	CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.A1770A|CACNA1C_ENST00000399644.1_Silent_p.A1770A|CACNA1C_ENST00000399634.1_Silent_p.A1770A|CACNA1C_ENST00000399603.1_Silent_p.A1770A|CACNA1C_ENST00000399629.1_Silent_p.A1787A|CACNA1C_ENST00000347598.4_Silent_p.A1818A|CACNA1C_ENST00000399637.1_Silent_p.A1789A|CACNA1C_ENST00000402845.3_Silent_p.A1789A|CACNA1C_ENST00000399617.1_Silent_p.A1770A|CACNA1C_ENST00000399638.1_Silent_p.A1798A|CACNA1C_ENST00000344100.3_Silent_p.A1811A|CACNA1C_ENST00000335762.5_Silent_p.A1795A|CACNA1C_ENST00000406454.3_Silent_p.A1770A|CACNA1C_ENST00000399621.1_Silent_p.A1789A|CACNA1C_ENST00000399606.1_Silent_p.A1790A|CACNA1C_ENST00000399591.1_Silent_p.A1778A|CACNA1C_ENST00000399597.1_Silent_p.A1770A|CACNA1C_ENST00000399649.1_Silent_p.A1776A|CACNA1C_ENST00000327702.7_Silent_p.A1770A|CACNA1C_ENST00000399601.1_Silent_p.A1770A|CACNA1C_ENST00000399595.1_Silent_p.A1778A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1818					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAACAACGCCAACAACACCG	0.682000													15	6					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256068	34256068	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:34256068C>T	ENST00000379166.2	-	11	3656	c.3537G>A	c.(3535-3537)acG>acA	p.T1179T	KIF24_ENST00000402558.2_Silent_p.T1179T|KIF24_ENST00000379174.3_Silent_p.T1045T|KIF24_ENST00000345050.2_Silent_p.T1045T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1179					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CATCCAGCCCCGTCTCCTCTG	0.562000													24	10					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101561919	101561919	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:101561919C>T	ENST00000536262.2	-	11	1833	c.1275G>A	c.(1273-1275)atG>atA	p.M425I		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	425					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGAACAGGCCCATAAGTGGTC	0.388000													9	4					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970636	45970636	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:45970636G>A	ENST00000391621.1	-	1	752	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	236						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CACACGGGGCGGCAGAGGAGG	0.667000													50	89					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516963	53516963	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:53516963C>T	ENST00000301466.3	+	13	1395	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	445					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGGGGTTCTTCTATCCCGTCA	0.592000													36	51					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37440998	37440998	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:37440998C>T	ENST00000374660.1	+	12	1587	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ANKRD30A_ENST00000602533.1_Silent_p.F496F|ANKRD30A_ENST00000361713.1_Silent_p.F496F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	552						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F496L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCCGATGTTCCCACCAGAAT	0.284000													16	29					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17157555	17157555	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:17157555G>A	ENST00000377833.4	-	7	700	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	212					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCATATTTGGATGCACACTG	0.567000													28	48					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040924	29040924	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:29040924G>A	ENST00000257189.4	+	7	896	c.813_splice	c.e7+1	p.Q271_splice		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	271	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGACTCTCAGGTACACCCAT	0.343000													4	14					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114162	117114162	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:117114162G>A	ENST00000310357.3	-	6	1945	c.1924C>T	c.(1924-1926)Ctc>Ttc	p.L642F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L571F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L467F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	642					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCAAAATTGAGGAAATGACAG	0.418000													27	54					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52667257	52667257	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:52667257G>A	ENST00000355568.4	-	13	1280	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	381							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)		TTTTCTTGAGGAATAGGGTGA	0.418000													37	56					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78295652	78295652	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:78295652G>A	ENST00000409931.3	-	11	2640	c.2569C>T	c.(2569-2571)Cca>Tca	p.P857S	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P857S			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	857						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCACCTTTGGTCCTTCATAA	0.453000													14	57					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171399473	171399473	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:171399473C>G	ENST00000334231.6	+	31	3660	c.3660C>G	c.(3658-3660)aaC>aaG	p.N1220K	MYO3B_ENST00000408978.4_Missense_Mutation_p.N1211K|MYO3B_ENST00000409044.3_Missense_Mutation_p.N1184K|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1211					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACATGCAAACAAGGTAGCTG	0.403000													21	69					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393915	154393915	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:154393915G>A	ENST00000435029.4	+	1	656	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	166	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATACGGGAGGATCCTAAGGA	0.398000													69	104					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056654	153056654	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:153056654G>A	ENST00000285900.5	+	7	1305	c.962G>A	c.(961-963)gGg>gAg	p.G321E	GRIA1_ENST00000448073.4_Missense_Mutation_p.G331E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G331E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G321E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G241E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G252E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	321					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGAATGCTGGGGATTGTCTG	0.567000													10	19					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212566709	212566709	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:212566709C>T	ENST00000342788.4	-	12	1782	c.1472G>A	c.(1471-1473)aGa>aAa	p.R491K	ERBB4_ENST00000436443.1_Missense_Mutation_p.R491K|ERBB4_ENST00000402597.1_Missense_Mutation_p.R491K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	491					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R491K(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCAGCTTTTCTGTTGTCCCG	0.318000										TSP Lung(8;0.080)			12	74					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055399	75055399	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:75055399C>T	ENST00000326665.5	-	12	2310	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E501K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	698	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTATCCTTTTCCTTTTCTTCT	0.458000													135	92					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15372031	15372031	+	Nonsense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:15372031T>A	ENST00000383791.3	-	2	401	c.181A>T	c.(181-183)Aga>Tga	p.R61*	SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000465894.2_5'UTR|SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	61	Glu-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GTCTCCCGTCTGTTGATATCA	0.438000													12	15					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629181	80629181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:80629181G>A	ENST00000369816.4	-	5	925	c.625C>T	c.(625-627)Cag>Tag	p.Q209*		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	209					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGATATTTCTGAATCCATGGG	0.348000													23	42					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241609	155241609	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:155241609C>T	ENST00000357232.3	-	14	3576	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1193	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCTTCCTTCGTCTGGATCG	0.453000													21	94					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290950	2290950	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:2290950C>T	ENST00000381458.5	+	3	371	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	103					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ATCTCCAGTCCTGCCAGCGCA	0.542000													35	129					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443000										HNSCC(38;0.096)			58	74					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411211	5411211	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5411211G>A	ENST00000328611.3	+	1	605	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	195						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCACCAGGAAGTGATACA	0.517000													48	56					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248398	55248398	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:55248398G>A	ENST00000308796.6	+	1	78	c.32G>A	c.(31-33)gGa>gAa	p.G11E	MUCL1_ENST00000546809.1_Intron|MUCL1_ENST00000547990.1_Intron	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	11						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						GTACTCTTGGGAGTTTCCATC	0.433000													18	30					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362573	9362573	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9362573C>T	ENST00000456448.1	+	1	968	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTGTTACCATCCCCCAGGAAG	0.498000													11	35					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609983	52609983	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:52609983C>T	ENST00000591504.1	-	3	314	c.40G>A	c.(40-42)Gat>Aat	p.D14N	CCDC68_ENST00000432185.1_Missense_Mutation_p.D14N|CCDC68_ENST00000337363.4_Missense_Mutation_p.D14N	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	14								p.D14Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCCATCTTATCCCTTGGGGGA	0.388000													20	32					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325312	132325312	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:132325312C>T	ENST00000360564.1	+	4	719	c.617C>T	c.(616-618)aCc>aTc	p.T206I	MMP17_ENST00000535291.1_Missense_Mutation_p.T122I|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	206					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCGGCGGCACCGTGGCCCAC	0.687000													17	27					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975831	10975831	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:10975831C>T	ENST00000254488.2	+	12	1620	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	518					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCTGGATGATCATGACCCCTG	0.562000													29	57					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854738	88854738	+	Missense_Mutation	SNP	G	G	A	rs145855770		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:88854738G>A	ENST00000537554.1	-	2	3818	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	CNR1_ENST00000369501.2_Missense_Mutation_p.L86F|CNR1_ENST00000535130.1_Missense_Mutation_p.L86F|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000549890.1_Missense_Mutation_p.L86F|CNR1_ENST00000369499.2_Missense_Mutation_p.L86F|CNR1_ENST00000468898.1_Missense_Mutation_p.L53F|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000428600.2_Missense_Mutation_p.L86F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	86					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AAGGACGAGAGAGACTTGTTG	0.507000													15	31					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:75858174C>T	ENST00000322507.8	-	22	4496	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_ENST00000483888.2_Missense_Mutation_p.R1396Q|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1396Q|COL12A1_ENST00000345356.6_Missense_Mutation_p.R232Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398000													23	33					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583553	7583553	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:7583553G>A	ENST00000379802.3	+	24	6399	c.6058G>A	c.(6058-6060)Gga>Aga	p.G2020R	DSP_ENST00000418664.2_Missense_Mutation_p.G1421R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2020	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCTATCGCTGGAGCATCTGC	0.473000													31	50					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674911	9674911	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:9674911G>A	ENST00000330255.4	-	6	845	c.833C>T	c.(832-834)cCc>cTc	p.P278L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P277L	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	278						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CTTGGGGATGGGGTTGGCCAT	0.602000													8	15					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583470	119583470	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:119583470C>T	ENST00000267260.4	+	9	1444	c.1056C>T	c.(1054-1056)acC>acT	p.T352T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	352	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCCCCACCAGCAGGGGCA	0.607000													12	13					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715037	150715037	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:150715037C>T	ENST00000335244.4	-	6	726	c.597G>A	c.(595-597)atG>atA	p.M199I	SLC36A2_ENST00000521967.1_Missense_Mutation_p.M199I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	199					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCGCGAGTCCATGGTGGGGG	0.532000													34	84					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551080	102551080	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:102551080C>T	ENST00000334701.7	-	6	1566	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E128K|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E307K	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	307					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CCGTACTCCTCATTAGTAATA	0.423000													45	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611793	179611793	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:179611793C>T	ENST00000360870.5	-	46	15556	c.15334G>A	c.(15334-15336)Gag>Aag	p.E5112K	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1220	Ig-like 31.						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)			TCTAGTGCCTCCCCTGGGGGT	0.478000													16	59					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948490	63948490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:63948490G>A	ENST00000443617.2	-	49	9754	c.9667C>T	c.(9667-9669)Cga>Tga	p.R3223*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3223					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACATTAATCGAACTAGCGTT	0.532000													9	33					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98079148	98079148	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:98079148G>A	ENST00000419175.1	+	3	677		c.e3+1		DNTT_ENST00000371174.2_Splice_Site	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase						DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATATTCACGGTAACGGGACT	0.448000													58	45					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565507	24565507	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:24565507G>A	ENST00000376862.3	+	3	1129	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	166					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.D166N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTACTCAAGCGACACAGAGAG	0.567000													39	40					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917729	2917729	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:2917729G>A	ENST00000306908.5	+	4	1258	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	ZNF57_ENST00000523428.1_Silent_p.G338G|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAATGTGGGAAAGCCTTCA	0.433000													5	70					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55880742	55880742	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:55880742C>T	ENST00000521992.1	-	13	1666	c.1521G>A	c.(1519-1521)acG>acA	p.T507T	CES5A_ENST00000520435.1_Silent_p.T448T|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.T372T|CES5A_ENST00000290567.9_Silent_p.T478T|CES5A_ENST00000319165.9_Silent_p.T428T	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	478						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCTCCTCCTCCGTGGCTCCTT	0.537000													31	121					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809378	5809378	+	Silent	SNP	A	A	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5809378A>T	ENST00000317078.1	-	1	668	c.669T>A	c.(667-669)atT>atA	p.I223I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTGCTTGAAGAATCATAGTGT	0.478000													10	28					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247237	97247237	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:97247237G>A	ENST00000229955.3	-	2	716	c.371C>T	c.(370-372)gCt>gTt	p.A124V	GPR63_ENST00000417980.1_Missense_Mutation_p.A124V	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	124						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCTGCAAAAGCTAGGCTGGC	0.438000													20	36					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122720958	122720958	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:122720958T>C	ENST00000452194.1	+	1	263	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L	HSF2_ENST00000368455.4_Missense_Mutation_p.F26L	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	26					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CACTAACGAGTTCATCACCTG	0.607000													17	27					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407105	77407105	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:77407105G>A	ENST00000560626.2	-	7	5109	c.4634C>T	c.(4633-4635)tCa>tTa	p.S1545L	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1545L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1545	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGGATAAGATGAGGTGGGGCT	0.592000													10	39					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60759730	60759730	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:60759730C>T	ENST00000303375.5	+	20	3340	c.2938C>T	c.(2938-2940)Ctc>Ttc	p.L980F	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	980	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GATCCAGTTCCTCAACAAGGT	0.612000													3	10					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83858445	83858445	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:83858445G>A	ENST00000340417.3	-	9	1916	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	LIN54_ENST00000505397.1_Silent_p.I513I|LIN54_ENST00000442461.2_Silent_p.I292I|LIN54_ENST00000446851.2_Silent_p.I292I|LIN54_ENST00000395283.2_Silent_p.I424I|LIN54_ENST00000510557.1_Silent_p.I292I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Silent_p.I424I	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	513					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTCTGATGGGATTATGCTGT	0.294000													31	40					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035068	201035068	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:201035068C>T	ENST00000362061.3	-	22	2977	c.2751G>A	c.(2749-2751)gtG>gtA	p.V917V	CACNA1S_ENST00000367338.3_Silent_p.V917V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	917				Missing (in Ref. 2; AAB37235).	axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCACTGCACCACGTGCTGGG	0.592000													5	13					0	0	1	0	0
MIR524	574478	broad.mit.edu	37	19	54214279	54214279	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:54214279G>A	ENST00000385242.1	+	0	24					NR_030200.1																						CCCTACAAAGGGAAGCACTTT	0.433000													39	66					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139727935	139727935	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:139727935C>T	ENST00000303045.6	-	30	2953	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.R836Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	836	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCTCGGTCACCTTT	0.373000										HNSCC(7;0.00092)			25	44					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:42265791C>T	ENST00000373030.3	+	12	1148	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	IFT52_ENST00000373039.4_Missense_Mutation_p.P340S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000													14	39					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101146	92101146	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:92101146C>T	ENST00000377067.3	+	2	667	c.295C>T	c.(295-297)Cta>Tta	p.L99L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	99						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTAAAGTTTCTAATATCTCG	0.438000													51	54					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918274	15918274	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:15918274C>T	ENST00000334920.2	-	1	662	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACCAGCACATCGTCTCCACAG	0.577000													36	55					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766694	67766694	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:67766694G>A	ENST00000227471.2	-	5	715	c.636C>T	c.(634-636)tcC>tcT	p.S212S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											AGGGCGCGTGGGAGCCCCGCG	0.602000													27	34					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47431082	47431082	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:47431082G>A	ENST00000285039.7	-	20	2830	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	844	Arg-rich.|IQ 3.|IQ 4.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCGGGTGAAGGCCTGGATAAC	0.602000													14	43					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90261313	90261313	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:90261313C>T	ENST00000405460.2	+	84	18034	c.17938C>T	c.(17938-17940)Ctg>Ttg	p.L5980L	GPR98_ENST00000425867.2_Silent_p.L1641L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5980					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACACATTACCTGTATCTTTG	0.473000													20	37					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003822	228003822	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:228003822C>T	ENST00000366757.3	+	2	204	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGGAAAATCCTGGGCGGCG	0.677000													17	116					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809237	31809237	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:31809237G>A	ENST00000446923.2	+	7	1317	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.R258Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.R326Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.R325Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.R305Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	325					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGTCCCACACGACCACAGATA	0.428000													18	36					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43898005	43898005	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:43898005C>T	ENST00000562955.1	+	36	5166	c.5166C>T	c.(5164-5166)ttC>ttT	p.F1722F	SZT2_ENST00000372442.1_Silent_p.F880F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1779						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGGCTTCTTCTTTGTGGCAG	0.592000													64	278					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81382804	81382804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:81382804G>A	ENST00000555265.1	-	3	463	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CEP128_ENST00000216517.6_Nonsense_Mutation_p.R30*|CEP128_ENST00000281129.3_Nonsense_Mutation_p.R30*|CEP128_ENST00000327841.2_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	30						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GGAAGACTTCGAGTTCCCCTG	0.418000													23	43					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66208964	66208964	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:66208964C>T	ENST00000360689.5	+	11	3291	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	FUT8_ENST00000417683.1_Missense_Mutation_p.P116S|FUT8_ENST00000358307.2_Missense_Mutation_p.P393S|FUT8_ENST00000394586.2_Missense_Mutation_p.P522S|FUT8_ENST00000394585.1_Missense_Mutation_p.P522S|FUT8_ENST00000557164.1_Missense_Mutation_p.P359S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	522	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AGATGAAATTCCCATGGAACC	0.448000													49	97					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394555	17394555	+	Missense_Mutation	SNP	G	G	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:17394555G>T	ENST00000394458.3	+	5	1258	c.982G>T	c.(982-984)Gat>Tat	p.D328Y	ANKLE1_ENST00000594072.1_Missense_Mutation_p.D317Y|ANKLE1_ENST00000404085.1_Missense_Mutation_p.D350Y|ANKLE1_ENST00000598347.1_Missense_Mutation_p.D328Y|ANKLE1_ENST00000433424.2_Missense_Mutation_p.D382Y	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	328						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACATCCATTGATAGTGACAT	0.612000													45	70					1.47857e-17	1.49681e-17	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41976683	41976683	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:41976683G>A	ENST00000372584.1	-	8	7671	c.6657C>T	c.(6655-6657)gcC>gcT	p.A2219A	HIVEP3_ENST00000372583.1_Silent_p.A2220A|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.A2219A|HIVEP3_ENST00000247584.5_Silent_p.A2220A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2220					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACTGACCCAGGCTGCGGTGG	0.711000													58	29					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187423	123187423	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:123187423C>T	ENST00000328880.5	-	1	467	c.408G>A	c.(406-408)ctG>ctA	p.L136L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	136					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AGATCTTGTTCAGGGCGTGGT	0.557000													44	55					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73919479	73919479	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:73919479G>A	ENST00000586717.1	-	13	1443	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P	FBF1_ENST00000389570.4_Silent_p.P390P|FBF1_ENST00000319129.5_Silent_p.P389P			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	389										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCCTGGAGGGGGGCAGCCCAG	0.652000													11	12					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137597817	137597817	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:137597817G>A	ENST00000330387.6	-	4	854	c.503C>T	c.(502-504)tCc>tTc	p.S168F	CREB3L2_ENST00000458726.1_Missense_Mutation_p.S105F|CREB3L2_ENST00000452463.1_Missense_Mutation_p.S168F|CREB3L2_ENST00000456390.1_Missense_Mutation_p.S168F	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	168					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGGCACGAGGAATCAACCTG	0.433000			T	FUS	fibromyxoid sarcoma								8	21					0	0	1	0	0
FBXO48	554251	broad.mit.edu	37	2	68691401	68691401	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:68691401G>A	ENST00000377957.2	-	4	815	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	136										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTGGGTACATGATTTTTTCTG	0.393000													62	75					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583469	119583469	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:119583469C>T	ENST00000267260.4	+	9	1443	c.1055C>T	c.(1054-1056)aCc>aTc	p.T352I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	352	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCTCCCCCACCAGCAGGGGC	0.602000													12	13					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21549220	21549220	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:21549220G>A	ENST00000382592.4	-	8	3461	c.3056C>T	c.(3055-3057)aCc>aTc	p.T1019I	LATS2_ENST00000542899.1_Missense_Mutation_p.T1019I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1019	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCAGGCCTTGGTGCTACCTTC	0.547000													74	159					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254221	79254221	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:79254221C>T	ENST00000272324.5	+	4	441	c.257C>T	c.(256-258)tCc>tTc	p.S86F	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.S86F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	86	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGAGGGATCCTTCGTGTCC	0.547000													24	94					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169609	42169609	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:42169609G>A	ENST00000373135.3	+	19	2292	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K	L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000427442.2_Silent_p.K788K|L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000418998.1_Silent_p.K788K	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TATCTGGGAAGACTCTAGTCT	0.562000													9	15					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129640	3129640	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:3129640C>T	ENST00000380266.3	-	2	398	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	26					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGACACACTTCGGACTGCACC	0.453000													19	62					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627845	26627845	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:26627845C>T	ENST00000380573.3	-	3	2245	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	ADRA1A_ENST00000380586.1_Missense_Mutation_p.A408T|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A408T|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A408T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A408T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A408T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	408					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTAATCCTGGCAGATCCACGG	0.532000													40	72					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999892	112999892	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:112999892C>T	ENST00000271277.6	+	6	2003	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	593						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCCTTCTCCATCTGCTACC	0.552000													42	29					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129748923	129748923	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:129748923G>A	ENST00000421865.2	+	41	5941	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1964	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTTATTAAAGGAAGATGCCA	0.408000													29	87					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097907	43097907	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43097907C>T	ENST00000244336.5	-	2	311	c.210G>A	c.(208-210)ggG>ggA	p.G70G	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	70	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCACTGTTTCCCCTTTGTACC	0.483000													83	128					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403558	69403558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:69403558G>A	ENST00000317746.2	-	6	1420	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	460					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AAGACTGCTCGATCCAGGGGC	0.428000													59	63					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127855032	127855032	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:127855032C>T	ENST00000508053.1	-	11	1536	c.562G>A	c.(562-564)Gga>Aga	p.G188R	FBN2_ENST00000262464.4_Missense_Mutation_p.G188R|FBN2_ENST00000508989.1_Missense_Mutation_p.G155R			P35556	FBN2_HUMAN	fibrillin 2	188	EGF-like 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGCAACGTCCACCATTCTGA	0.433000													8	9					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993849	237993849	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:237993849G>A	ENST00000366574.2	+	103	14992	c.14675G>A	c.(14674-14676)gGg>gAg	p.G4892E	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.G4876E|RYR2_ENST00000360064.6_Missense_Mutation_p.G4898E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4892					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCATCTGTGGGATAGGCAAT	0.438000													100	56					0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5463114	5463114	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:5463114C>T	ENST00000381577.3	+	4	761	c.675C>T	c.(673-675)gtC>gtT	p.V225V	CD274_ENST00000381573.4_Silent_p.V111V|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	225	Ig-like C2-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CTGAATTGGTCATCCCAGGTA	0.393000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								39	24					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552139	100552139	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:100552139C>G	ENST00000319509.7	+	1	890	c.890C>G	c.(889-891)aCc>aGc	p.T297S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTTCTTCAACCAGCTCCTCT	0.458000													35	476					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23481532	23481532	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:23481532G>A	ENST00000376504.3	+	1	277	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	25					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGACGAGGACGACTTCTTCAC	0.652000													27	37					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882710	152882710	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152882710G>A	ENST00000368764.3	+	2	501	c.437G>A	c.(436-438)gGa>gAa	p.G146E	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	146					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAACTGGGAATGAAGAAA	0.527000													15	16					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10084758	10084758	+	Silent	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:10084758T>C	ENST00000287647.3	+	12	1006	c.913T>C	c.(913-915)Ttg>Ctg	p.L305L	FANCD2_ENST00000383806.1_Silent_p.L305L|FANCD2_ENST00000419585.1_Silent_p.L305L|FANCD2_ENST00000383807.1_Silent_p.L305L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	305	Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCGGGAGAAGTTGGATCTGCA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				25	39					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499995	120499995	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:120499995C>T	ENST00000283875.5	+	5	1091	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	333					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAAAGACTTCCTCTGCCATG	0.537000													19	45					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550584	144550584	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:144550584G>A	ENST00000262577.5	-	7	2104	c.2073C>T	c.(2071-2073)atC>atT	p.I691I		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	691					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGGGATCGTGGATGTAGGGGC	0.672000													11	14					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203040861	203040861	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:203040861C>T	ENST00000367240.2	+	27	3830	c.3303C>T	c.(3301-3303)gcC>gcT	p.A1101A	PPFIA4_ENST00000447715.2_Silent_p.A1100A|PPFIA4_ENST00000414050.2_Silent_p.A829A|PPFIA4_ENST00000295706.4_Silent_p.A607A|PPFIA4_ENST00000272198.6_Silent_p.A616A|PPFIA4_ENST00000599966.1_Silent_p.A607A			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	616					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCTGTTGGCCTTGGGCACAG	0.498000													12	13					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546833	85546833	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:85546833C>T	ENST00000393217.2	+	21	4512	c.4451C>T	c.(4450-4452)tCa>tTa	p.S1484L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGATACTTCATTTAATTTA	0.279000													15	36					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287620	16287620	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:16287620G>A	ENST00000343518.6	-	1	317	c.266C>T	c.(265-267)tCt>tTt	p.S89F		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	89										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAATCGTCGTG	0.607000													74	175					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99226911	99226911	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:99226911C>T	ENST00000394152.2	+	8	1230	c.903C>T	c.(901-903)ctC>ctT	p.L301L	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Silent_p.L301L|ZSCAN25_ENST00000262941.6_Silent_p.L229L	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		AAGCCTCTCTCCAGGGCCCTG	0.652000													26	66					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978548	10978548	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:10978548G>A	ENST00000240619.2	-	1	409	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTATCTTCAGGAAATAGAAGA	0.348000													15	16					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127855031	127855031	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:127855031C>T	ENST00000508053.1	-	11	1537	c.563G>A	c.(562-564)gGa>gAa	p.G188E	FBN2_ENST00000262464.4_Missense_Mutation_p.G188E|FBN2_ENST00000508989.1_Missense_Mutation_p.G155E			P35556	FBN2_HUMAN	fibrillin 2	188	EGF-like 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGCAACGTCCACCATTCTG	0.428000													8	9					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725125	181725125	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:181725125G>A	ENST00000526775.1	+	28	4131	c.3966G>A	c.(3964-3966)atG>atA	p.M1322I	CACNA1E_ENST00000367573.2_Missense_Mutation_p.M1341I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.M948I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M1341I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1273I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M1292I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M1322I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1341					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAACAAGATGGAGGTGAAGG	0.493000													25	19					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884799	228884799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:228884799C>T	ENST00000392056.3	-	7	817	c.771G>A	c.(769-771)tgG>tgA	p.W257*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.W257*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	257						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTTGCAATTCCATTCCACCT	0.383000													94	40					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416132	105416132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:105416132G>A	ENST00000333244.5	-	7	5775	c.5656C>T	c.(5656-5658)Caa>Taa	p.Q1886*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1886						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGTCCACTTGGCCAGCCTGG	0.632000													83	128					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464788	73464788	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:73464788G>A	ENST00000224721.6	+	24	2874	c.2869G>A	c.(2869-2871)Gag>Aag	p.E957K	CDH23_ENST00000299366.7_Missense_Mutation_p.E997K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	952	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACCACCACCGAGCTGGACCG	0.667000													33	46					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38534056	38534056	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:38534056C>T	ENST00000356264.2	-	4	492	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	AMPH_ENST00000325590.5_Missense_Mutation_p.E93K|AMPH_ENST00000428293.2_Missense_Mutation_p.E93K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	93	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCACATCTTCCCGCCCATAC	0.547000													43	78					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113563048	113563048	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:113563048C>T	ENST00000416899.2	+	13	2492	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F	MUSK_ENST00000374448.4_Missense_Mutation_p.S797F|MUSK_ENST00000189978.5_Missense_Mutation_p.S797F			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	797	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGATCTTCTCCTATGGCCTG	0.542000													23	8					0	0	1	0	0
NRBF2	29982	broad.mit.edu	37	10	64913917	64913917	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64913917C>T	ENST00000277746.6	+	4	984	c.803C>T	c.(802-804)tCt>tTt	p.S268F	NRBF2_ENST00000435510.2_Missense_Mutation_p.S258F	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	268					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTTCCATCTCCAGAACTT	0.428000													13	52					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435859	54435859	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:54435859T>A	ENST00000545554.1	+	3	3049	c.3049T>A	c.(3049-3051)Tct>Act	p.S1017T	UNC13C_ENST00000537900.1_Missense_Mutation_p.S1017T|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1017T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1017					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCCAAATTTTCTGCACTCCA	0.373000													11	23					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932017	83932017	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:83932017C>T	ENST00000345382.2	-	4	2071	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.M655I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	662					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTTGGGGTTCCATCCCAGGTG	0.532000													31	19					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176289792	176289792	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:176289792G>A	ENST00000329542.4	+	2	512	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	80	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCAACGGGGAGTGGGTGCG	0.652000													45	104					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334243	50334243	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:50334243G>A	ENST00000443842.1	-	2	1459	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	NAT6_ENST00000443094.2_Missense_Mutation_p.P218S|NAT6_ENST00000417393.1_Missense_Mutation_p.P218S|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.P240S|HYAL3_ENST00000513170.1_Intron					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTGGCCGGGGAGAGGGGGCT	0.672000													25	47					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21523886	21523886	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:21523886A>G	ENST00000313654.9	+	69	9402	c.9161A>G	c.(9160-9162)aAa>aGa	p.K3054R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.K1389R|LAMA3_ENST00000399516.3_Missense_Mutation_p.K2998R|LAMA3_ENST00000269217.6_Missense_Mutation_p.K1445R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3054	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGGGAAAAAATTGAGGATC	0.463000													24	29					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515712	51515712	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:51515712G>A	ENST00000328188.1	+	1	431	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTGCTAATGGGAGTGGTGTGG	0.453000													29	111					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835693	61835693	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:61835693G>A	ENST00000280772.1	-	37	5137	c.4946C>T	c.(4945-4947)tCa>tTa	p.S1649L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1649	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1649L(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTAATGTTTGATTTGGGGGA	0.423000													27	43					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83778123	83778123	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:83778123G>A	ENST00000432794.1	-	16	2026	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	SEC31A_ENST00000505984.1_Silent_p.S582S|SEC31A_ENST00000326950.5_Silent_p.S582S|SEC31A_ENST00000395310.2_Silent_p.S621S|SEC31A_ENST00000355196.2_Silent_p.S621S|SEC31A_ENST00000500777.2_Silent_p.S582S|SEC31A_ENST00000443462.2_Silent_p.S616S|SEC31A_ENST00000264405.5_Silent_p.S354S|SEC31A_ENST00000311785.7_Silent_p.S621S|SEC31A_ENST00000348405.4_Silent_p.S582S|SEC31A_ENST00000448323.1_Silent_p.S621S|SEC31A_ENST00000508502.1_Silent_p.S621S|SEC31A_ENST00000505472.1_Silent_p.S621S|SEC31A_ENST00000508479.1_Silent_p.S621S|SEC31A_ENST00000513858.1_Silent_p.S582S|SEC31A_ENST00000509142.1_Silent_p.S621S			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	621					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTTGCTTTGGGATTTTGCGA	0.328000													12	40					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552514	43552514	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43552514G>A	ENST00000430334.3	-	4	1008	c.875C>T	c.(874-876)tCa>tTa	p.S292L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S203L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	292					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCCCAGGTCTGAGTCACAGGA	0.542000													20	27					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416921	145416921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:145416921G>A	ENST00000336751.5	+	4	1504	c.1266G>A	c.(1264-1266)tgG>tgA	p.W422*	HFE2_ENST00000357836.5_Nonsense_Mutation_p.W309*|HFE2_ENST00000475797.1_Nonsense_Mutation_p.W196*|HFE2_ENST00000497365.1_Nonsense_Mutation_p.W196*	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	422					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTTCTGTGGCTTTGCATTC	0.448000													29	90					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95183143	95183143	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:95183143G>A	ENST00000027335.3	-	8	978	c.854C>T	c.(853-855)tCa>tTa	p.S285L	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.S285L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	285	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTGGTCAATTGAAAATGGGAA	0.458000													44	63					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264737	46264737	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:46264737C>T	ENST00000372004.3	+	12	1823	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	NCOA3_ENST00000371998.3_Missense_Mutation_p.S536F|NCOA3_ENST00000371997.3_Missense_Mutation_p.S546F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S546F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	536	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGGGGACTTCCCTTTTATCT	0.478000													34	34					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78598746	78598746	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:78598746C>T	ENST00000397909.2	+	39	7039	c.6866C>T	c.(6865-6867)cCt>cTt	p.P2289L	NAV3_ENST00000536525.2_Missense_Mutation_p.P2267L|NAV3_ENST00000266692.7_Missense_Mutation_p.P2090L|NAV3_ENST00000228327.6_Missense_Mutation_p.P2267L|NAV3_ENST00000541270.1_Missense_Mutation_p.P119L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2289						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGAAGATCCTTCAAAGTGG	0.453000										HNSCC(70;0.22)			14	29					0	0	1	0	0
CXCL14	9547	broad.mit.edu	37	5	134914202	134914202	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:134914202C>T	ENST00000337225.5	-	2	592	c.128G>A	c.(127-129)gGa>gAa	p.G43E	CXCL14_ENST00000512158.1_Missense_Mutation_p.G31E|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	43					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATCTTGGGTCCCTTCCGGGA	0.597000													44	58					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973766	115973766	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:115973766C>T	ENST00000251864.2	+	16	2258	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	TDRD1_ENST00000369281.2_Missense_Mutation_p.P645L|TDRD1_ENST00000369282.1_Missense_Mutation_p.P702L|TDRD1_ENST00000369280.1_Missense_Mutation_p.P702L|TDRD1_ENST00000422662.1_Missense_Mutation_p.P306L	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	702					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGTAAATCCATTGGAGTGG	0.423000													25	10					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411562	2411562	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:2411562G>A	ENST00000202625.2	+	12	1917	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	619					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCCATGGTGGGAGTGGCAGTT	0.592000													35	104					0	0	1	0	0
DLX1	1745	broad.mit.edu	37	2	172952845	172952845	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:172952845C>T	ENST00000361725.4	+	3	1080	c.628C>T	c.(628-630)Cca>Tca	p.P210S	DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCTGGCTCCCCACCCGTGCC	0.617000													39	45					0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500589	44500589	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:44500589C>T	ENST00000270014.2	+	5	708	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	ZNF155_ENST00000590615.1_Missense_Mutation_p.H194Y|ZNF155_ENST00000407951.2_Missense_Mutation_p.H205Y	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCTTCATGTTCATCAGAGAGT	0.423000													66	109					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942287	22942287	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22942287C>T	ENST00000397104.3	-	4	486	c.487G>A	c.(487-489)Gga>Aga	p.G163R	ZNF99_ENST00000596209.1_Missense_Mutation_p.G142R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AATATTTTTCCCTGGGTAGTT	0.284000													4	22					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490387	58490387	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:58490387G>A	ENST00000341164.4	-	7	2281	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V	ZNF606_ENST00000536132.1_Missense_Mutation_p.A464V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTACTAAGGGCTGAGTAGTC	0.408000													16	34					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398171	77398171	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:77398171C>T	ENST00000282849.5	-	5	1304	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	296	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGAGGGTTTCCACATTGAGG	0.488000													17	62					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709838	67709838	+	Missense_Mutation	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:67709838G>C	ENST00000268797.7	-	3	723	c.378C>G	c.(376-378)ttC>ttG	p.F126L	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	126						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AGGCAGGCAGGAAGCGCAGCA	0.587000													6	30					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634312	27634312	+	Missense_Mutation	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27634312A>G	ENST00000305188.8	+	3	725	c.487A>G	c.(487-489)Aga>Gga	p.R163G	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	163					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAGGAATTCTAGAAATTCCAA	0.378000									SC Phocomelia syndrome				19	37					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38374132	38374132	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:38374132C>T	ENST00000396884.2	-	3	721	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000470555.1_5'UTR|SOX10_ENST00000360880.2_Missense_Mutation_p.E147K	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	147						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TTGTCACTTTCGTTCAGCAGC	0.617000													5	4					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131301	72131301	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:72131301C>T	ENST00000265381.4	-	2	1048	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	276	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGCTTCACCTCGGCCACTATC	0.682000													16	5					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932473	83932473	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:83932473G>A	ENST00000345382.2	-	4	1615	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.S503S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	510					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACAGCGGGAGGGAAGGGAGTA	0.517000													14	56					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149912879	149912879	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:149912879C>T	ENST00000445323.2	+	13	1641	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	MTMR1_ENST00000370390.3_Missense_Mutation_p.P499L|MTMR1_ENST00000451863.2_Missense_Mutation_p.P499L|MTMR1_ENST00000544228.1_Missense_Mutation_p.P499L|MTMR1_ENST00000538506.1_Missense_Mutation_p.P324L|MTMR1_ENST00000541925.1_Missense_Mutation_p.P405L			Q13613	MTMR1_HUMAN	myotubularin related protein 1	499	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACCGATCTCCCATATTTCTG	0.373000													36	21					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030534	3030534	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:3030534G>A	ENST00000328890.2	-	1	341	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAAATAACATGAAAAAATACA	0.483000													21	33					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23436220	23436220	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:23436220G>A	ENST00000307149.5	-	7	1044	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	287					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGGGCCCCCAGGGTCTGAATC	0.622000													4	16					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35756961	35756961	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:35756961G>A	ENST00000187397.4	+	12	1384	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	ARPP21_ENST00000458225.1_Missense_Mutation_p.E276K|ARPP21_ENST00000444190.1_Missense_Mutation_p.E276K|ARPP21_ENST00000417925.1_Missense_Mutation_p.E276K|ARPP21_ENST00000337271.5_Missense_Mutation_p.E276K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	310						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCTTTTTGTGGAAAACAGGTA	0.358000													6	28					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132211584	132211584	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:132211584G>A	ENST00000360971.2	+	25	2731	c.2711G>A	c.(2710-2712)aGa>aAa	p.R904K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	904	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.R852I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATCAACAAAGAAAAGAGCCA	0.393000													36	57					0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10350560	10350560	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:10350560C>T	ENST00000381786.3	+	4	606	c.317C>T	c.(316-318)cCc>cTc	p.P106L		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	106										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		ACAGGGACACCCCTGGAGCGA	0.562000													15	31					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777725	3777725	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:3777725G>A	ENST00000262367.5	-	31	8132	c.7323C>T	c.(7321-7323)ggC>ggT	p.G2441G	CREBBP_ENST00000382070.3_Silent_p.G2403G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2441					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGCTACAAGCCCTCCACAA	0.522000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						38	47					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792498	35792498	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:35792498C>T	ENST00000440995.2	+	31	4489	c.4489C>T	c.(4489-4491)Ctt>Ttt	p.L1497F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.L299F|SPEF2_ENST00000356031.3_Missense_Mutation_p.L1502F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1502					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACCCTGAACCTTGGCACAAA	0.348000													24	69					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457462	110457462	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:110457462C>T	ENST00000378402.5	+	38	5468	c.5364C>T	c.(5362-5364)ttC>ttT	p.F1788F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1788	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCAACAGTTCAGAGCAATAG	0.418000										HNSCC(38;0.096)			35	59					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113866259	113866259	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:113866259C>T	ENST00000403593.4	+	3	471	c.209C>T	c.(208-210)tCc>tTc	p.S70F	SDSL_ENST00000345635.4_Missense_Mutation_p.S70F			Q96GA7	SDSL_HUMAN	serine dehydratase-like	70					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CTGGTGTGCTCCTCAGGTGAC	0.542000													3	22					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327417	27327417	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27327417C>T	ENST00000407991.1	-	3	763	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CHRNA2_ENST00000520933.2_Missense_Mutation_p.G52E|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G52E	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	52						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGCGAGCCTCCCTGCGGCAA	0.632000													33	52					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73766958	73766958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:73766958C>T	ENST00000373115.4	+	3	606	c.169C>T	c.(169-171)Caa>Taa	p.Q57*		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	57					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCAGATTCCCCAAGCTCTAGC	0.572000													11	25					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18154329	18154329	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:18154329G>A	ENST00000327031.4	-	14	1824	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	FLII_ENST00000545457.2_Silent_p.T478T|FLII_ENST00000579294.1_Silent_p.T522T|FLII_ENST00000379450.4_Silent_p.T447T|FLII_ENST00000578558.1_Silent_p.T532T	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	533	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATCCAGAAAGGTCTGGAAGC	0.607000													12	16					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067330	9067330	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9067330G>A	ENST00000397910.4	-	3	20319	c.20116C>T	c.(20116-20118)Cat>Tat	p.H6706Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6708	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTGGAATGATCAGGGCCT	0.478000													74	134					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165404205	165404205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:165404205C>T	ENST00000263915.3	-	3	984	c.446G>A	c.(445-447)tGg>tAg	p.W149*	GRB14_ENST00000543549.1_Nonsense_Mutation_p.W62*	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	149	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAAAAGGGTCCAGCTGTGGTC	0.443000													15	31					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26085091	26085091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:26085091G>A	ENST00000374332.4	+	6	1268	c.938G>A	c.(937-939)tGg>tAg	p.W313*	MAN1C1_ENST00000263979.3_Nonsense_Mutation_p.W133*|MAN1C1_ENST00000374329.1_Nonsense_Mutation_p.W84*|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	313					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGTGGGAACTGGGGCTGGGCC	0.597000													24	27					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33771816	33771816	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:33771816C>T	ENST00000285013.6	-	3	1159	c.884G>A	c.(883-885)aGc>aAc	p.S295N	SLFN13_ENST00000526861.1_Missense_Mutation_p.S295N|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.S295N|SLFN13_ENST00000542635.1_Missense_Mutation_p.S295N|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	295						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATTTTGGTGCTGTACTCTAC	0.418000													70	102					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144384	44144384	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:44144384G>A	ENST00000542245.1	+	10	1106	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	CAPN11_ENST00000398776.1_Silent_p.G356G			Q9UMQ6	CAN11_HUMAN	calpain 11	356	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGGAGGACGGGGAGTTCTGGT	0.627000													29	44					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377761	19377761	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:19377761G>A	ENST00000550708.1	+	1	240	c.168G>A	c.(166-168)ggG>ggA	p.G56G		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATAACAGGGAATGGAGCCA	0.403000													49	28					0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320328	80320328	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:80320328G>A	ENST00000333437.4	+	2	612	c.302G>A	c.(301-303)gGg>gAg	p.G101E		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	101						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TGGGGGCCAGGGACCCTGGCA	0.667000													27	55					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685478	53685478	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:53685478T>G	ENST00000257934.4	+	26	5616	c.5525T>G	c.(5524-5526)aTg>aGg	p.M1842R	ESPL1_ENST00000552462.1_Missense_Mutation_p.M1842R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1842					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGCAGATCATGCTCAGTGGT	0.552000													96	156					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62500818	62500818	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:62500818G>A	ENST00000225792.5	-	2	588	c.187C>T	c.(187-189)Cct>Tct	p.P63S	DDX5_ENST00000450599.2_Missense_Mutation_p.P63S|DDX5_ENST00000578804.1_Missense_Mutation_p.P63S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	63					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCAAATCAGGGTGCTCTTGA	0.398000			T	ETV4	prostate								28	63					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847480	123847480	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:123847480T>G	ENST00000531945.1	-	1	1008	c.919A>C	c.(919-921)Aag>Cag	p.K307Q		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCACCTCCTTGTTCCGCAAA	0.532000													46	46					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103866375	103866375	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:103866375G>A	ENST00000296422.7	-	6	769	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	SLC9B1_ENST00000394789.3_Missense_Mutation_p.P210S	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	210						integral to membrane	solute:hydrogen antiporter activity										CATTGCCAGGGAAATTTCATA	0.348000													20	72					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769532	247769532	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247769532C>T	ENST00000320002.2	+	1	677	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACTCATCTCCATCTCCTATG	0.473000													7	54					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43206869	43206869	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr22:43206869C>T	ENST00000263245.5	-	12	1365	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	ARFGAP3_ENST00000437119.2_Silent_p.E338E|ARFGAP3_ENST00000429508.2_Silent_p.E310E	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	382					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTTTGCTGGTCTCTTTTTTCC	0.428000													31	62					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6479042	6479042	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6479042G>A	ENST00000525074.1	-	4	793	c.399C>T	c.(397-399)gcC>gcT	p.A133A	TRIM3_ENST00000359518.3_Silent_p.A133A|TRIM3_ENST00000536344.1_Silent_p.A14A|TRIM3_ENST00000345851.3_Silent_p.A133A|TRIM3_ENST00000537602.1_Silent_p.A133A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	133					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCACACATGGCCGTCTCAC	0.612000													34	46					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10441093	10441093	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:10441093G>A	ENST00000245503.5	-	15	1860	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	MYH2_ENST00000397183.2_Silent_p.F492F|MYH2_ENST00000532183.1_Silent_p.F492F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	492	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTGGTGGTTGAAAAACTGTT	0.468000													43	80					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070619	32070619	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:32070619C>T	ENST00000566806.1	-	0	499																											TGCAAGGCTTCTGGATACACC	0.537000													22	35					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81864681	81864681	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:81864681C>T	ENST00000555447.1	-	3	458	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	STON2_ENST00000267540.2_Missense_Mutation_p.V16I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	16					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGAAGGAGACCCATTCTGAC	0.488000													16	29					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68024790	68024790	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:68024790G>A	ENST00000412757.2	-	8	1508	c.843C>T	c.(841-843)tcC>tcT	p.S281S	DPEP2_ENST00000572888.1_Silent_p.S281S|DPEP2_ENST00000393847.1_Silent_p.S281S			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	281					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CAGCCGAGTGGGAGAAGATCA	0.567000													58	84					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39162578	39162578	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:39162578G>A	ENST00000301819.6	+	9	1192	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TTC21A_ENST00000440121.1_Missense_Mutation_p.E290K|TTC21A_ENST00000431162.2_Missense_Mutation_p.E339K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	339							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGGCCACAGAACTGGGCTA	0.512000													28	49					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55056097	55056097	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:55056097G>A	ENST00000505374.1	+	4	289	c.197G>A	c.(196-198)gGa>gAa	p.G66E	DDX4_ENST00000354991.5_Missense_Mutation_p.G66E|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Missense_Mutation_p.G66E|DDX4_ENST00000514278.2_Missense_Mutation_p.G66E	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	66	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGAATTTTGGAAACAGAGGT	0.378000													30	51					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450167	44450167	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:44450167G>A	ENST00000360029.3	-	1	657	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	125						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCCTTCTCGGGGAAGTGCTC	0.612000										HNSCC(17;0.042)			13	15					0	0	1	0	0
POC1B	282809	broad.mit.edu	37	12	89885749	89885749	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:89885749G>A	ENST00000393179.4	-	2	639	c.26C>T	c.(25-27)tCc>tTc	p.S9F	POC1B_ENST00000378528.2_Missense_Mutation_p.S9F|POC1B_ENST00000549504.1_Missense_Mutation_p.S9F|POC1B_ENST00000549035.1_Missense_Mutation_p.S97F|POC1B_ENST00000313546.3_Missense_Mutation_p.S139F|POC1B_ENST00000541909.1_Missense_Mutation_p.S9F					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCGATACAAGGAATACAGGAA	0.418000													28	35					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543105	167543105	+	Silent	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:167543105A>G	ENST00000295777.5	+	9	1658	c.1227A>G	c.(1225-1227)gaA>gaG	p.E409E	SERPINI1_ENST00000446050.2_Silent_p.E409E|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	409					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTTCGAAGAACTTTAAGTTA	0.323000													23	48					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25775362	25775362	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:25775362C>T	ENST00000374343.4	+	3	465	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	TMEM57_ENST00000399766.3_Missense_Mutation_p.P96S|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	96						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTTCATCCCCATACAGTG	0.348000													24	21					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768860	140768860	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140768860C>T	ENST00000519479.1	+	1	1409	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCTATTTCACAAGTCAGG	0.547000													36	65					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112717095	112717095	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:112717095C>T	ENST00000550722.1	-	9	1587	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R	HECTD4_ENST00000377560.5_Missense_Mutation_p.G398R|HECTD4_ENST00000430131.2_Missense_Mutation_p.G148R	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGCCTGATCCCCCTGGAGGA	0.473000													30	56					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416390	56416390	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56416390C>T	ENST00000588751.1	-	8	2560	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R	NLRP13_ENST00000342929.3_Missense_Mutation_p.G846R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	846							ATP binding	p.G846R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGATTAAATCCCAGGCACAAT	0.512000													23	38					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155209784	155209784	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:155209784G>A	ENST00000327247.5	-	4	432	c.200C>T	c.(199-201)cCc>cTc	p.P67L	GBA_ENST00000427500.2_Missense_Mutation_p.P67L|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.2_5'UTR|GBA_ENST00000536770.1_Intron|GBA_ENST00000368373.3_Missense_Mutation_p.P67L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	67					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AAAGGTCGGGGGGTCAAAGGA	0.597000									Gaucher disease type I				30	34					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124631	103124631	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:103124631G>A	ENST00000295269.4	+	5	1749	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	431					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGTGTTCGAGGAGCTGGAAGT	0.398000													20	49					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439400	169439400	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:169439400C>T	ENST00000236137.5	-	3	1068	c.832G>A	c.(832-834)Gta>Ata	p.V278I	SLC19A2_ENST00000367804.3_Missense_Mutation_p.V77I|SLC19A2_ENST00000367802.3_Missense_Mutation_p.V240I	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	278					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACTTTCAATACAAGGAGACGG	0.453000													9	41					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5047525	5047525	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:5047525C>T	ENST00000159111.4	+	6	689	c.471C>T	c.(469-471)atC>atT	p.I157I	KDM4B_ENST00000381759.4_Silent_p.I157I|KDM4B_ENST00000536461.1_Silent_p.I157I|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	157	JmjC.				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						TCCGGACCATCCTGGACATGG	0.677000													32	45					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224922315	224922315	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:224922315T>G	ENST00000272133.3	+	5	1244	c.362T>G	c.(361-363)gTg>gGg	p.V121G		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	121					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GACCCACCGGTGGTCATGAAT	0.512000													58	43					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247468	56247468	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:56247468G>A	ENST00000545221.1	+	1	452	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCTGGGTGGGAGGCTTTGTC	0.567000													54	86					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:87043668C>T	ENST00000370563.3	+	12	2077	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R679W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTAAAAGTTCGGGCTCATGG	0.438000													15	9					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240596	21240596	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:21240596T>A	ENST00000261560.5	+	5	1663	c.1482T>A	c.(1480-1482)ttT>ttA	p.F494L		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCAAAGCTTTTAACCAATTCT	0.368000													16	22					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583667	47583667	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:47583667C>T	ENST00000172229.3	+	3	340	c.215C>T	c.(214-216)aCg>aTg	p.T72M	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	72					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TCAGGCGTGACGTTCTCCGAC	0.672000													9	39					0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39580846	39580846	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:39580846C>T	ENST00000432258.1	+	0	3435																											CTGAAGCCTCCTCTCCTCCCA	0.562000													12	25					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934564	113934564	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:113934564T>G	ENST00000335953.4	+	2	922	c.542T>G	c.(541-543)gTg>gGg	p.V181G	ZBTB16_ENST00000392996.2_Missense_Mutation_p.V181G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	181					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGGCCCATGGTGGACCAGAGC	0.557000													12	38					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43911151	43911151	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:43911151C>T	ENST00000314537.5	+	11	1226	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Missense_Mutation_p.P294L|CRHR1_ENST00000293493.7_Missense_Mutation_p.P159L|CRHR1_ENST00000577353.1_Missense_Mutation_p.P334L|CRHR1_ENST00000398285.3_Missense_Mutation_p.P363L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	363					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCGTCAATCCCGGGGAGGAT	0.607000													38	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014700	9014700	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9014700C>T	ENST00000397910.4	-	31	38478	c.38275G>A	c.(38275-38277)Gag>Aag	p.E12759K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12761	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CCATCCTTCTCGGACCTGAGG	0.527000													25	27					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168348608	168348608	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:168348608G>A	ENST00000366806.2	+	28	3750	c.3608G>A	c.(3607-3609)gGa>gAa	p.G1203E	MLLT4_ENST00000447894.2_Missense_Mutation_p.G1203E|MLLT4_ENST00000351017.4_Missense_Mutation_p.G1210E|MLLT4_ENST00000400822.3_Missense_Mutation_p.G1202E|MLLT4_ENST00000392112.1_Missense_Mutation_p.G1186E|MLLT4_ENST00000344191.4_Missense_Mutation_p.G1203E|MLLT4_ENST00000392108.3_Missense_Mutation_p.G1203E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1203					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GTCTCTACTGGAAACCTCTGC	0.448000			T	MLL	AL								21	30					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420310	43420310	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43420310C>T	ENST00000601833.1	-	2	1464	c.181G>A	c.(181-183)Gga>Aga	p.G61R	PSG6_ENST00000402603.4_Missense_Mutation_p.G132R|PSG6_ENST00000292125.2_Missense_Mutation_p.G132R|PSG6_ENST00000187910.2_Missense_Mutation_p.G132R					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)				CCAGTTACTCCTCCAGTCCCA	0.483000													73	143					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876185	4876185	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:4876185G>A	ENST00000399583.3	-	3	774	c.587C>T	c.(586-588)cCg>cTg	p.P196L	RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.P196L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	196					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCCGGGGTCGGGGTTCCCTT	0.657000													12	28					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	C	T	rs138402445		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55377343C>T	ENST00000326321.3	+	7	1117	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R362C|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R345C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000													14	28					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209309557	209309557	+	Missense_Mutation	SNP	T	T	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:209309557T>A	ENST00000272847.2	+	7	1011	c.798T>A	c.(796-798)ttT>ttA	p.F266L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	266						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATCTCATCTTTGTGGCTTTCT	0.413000													31	128					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112717094	112717094	+	Missense_Mutation	SNP	C	C	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:112717094C>A	ENST00000550722.1	-	9	1588	c.1193G>T	c.(1192-1194)gGa>gTa	p.G398V	HECTD4_ENST00000377560.5_Missense_Mutation_p.G398V|HECTD4_ENST00000430131.2_Missense_Mutation_p.G148V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTGCCTGATCCCCCTGGAGG	0.473000													30	55					7.01153e-11	7.06896e-11	1	1	0
CHD3	1107	broad.mit.edu	37	17	7796822	7796822	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:7796822C>T	ENST00000380358.4	+	5	906	c.905C>T	c.(904-906)cCa>cTa	p.P302L	CHD3_ENST00000358181.4_Missense_Mutation_p.P243L|CHD3_ENST00000330494.7_Missense_Mutation_p.P243L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	243					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCCGCCCTTCCACCACCCCCT	0.632000													17	24					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660619	76660619	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:76660619C>T	ENST00000369950.3	-	13	1673	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	495					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATGTGAAATTCCCAGAGCCAG	0.502000													23	32					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921301	247921301	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247921301C>T	ENST00000408896.2	-	1	681	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCACAGGTTCATTCTGGCGG	0.493000													7	34					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768411	117768411	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:117768411G>A	ENST00000317775.6	-	2	1149	c.464C>T	c.(463-465)cCc>cTc	p.P155L	NOS1_ENST00000338101.4_Missense_Mutation_p.P155L|NOS1_ENST00000344089.3_Missense_Mutation_p.P155L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	155	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCATTCCCGGGACCCGAGGC	0.706000													33	73					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766695	67766695	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:67766695G>A	ENST00000227471.2	-	5	714	c.635C>T	c.(634-636)tCc>tTc	p.S212F	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GGGCGCGTGGGAGCCCCGCGG	0.602000													26	34					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349062	103349062	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:103349062G>A	ENST00000357421.4	-	2	1059	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	293					transport	integral to membrane|mitochondrial inner membrane											TCCTCTGCAGGAAGTCATGGA	0.532000													11	1					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65415352	65415352	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:65415352C>T	ENST00000330909.8	-	12	2009	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	MAGI1_ENST00000497477.2_Silent_p.Q670Q|MAGI1_ENST00000402939.2_Silent_p.Q670Q|MAGI1_ENST00000483466.1_Silent_p.Q670Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	670	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTCAACAATCTGTTTCACTC	0.493000													28	42					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777154	60777154	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:60777154G>A	ENST00000313421.7	+	5	1078	c.892G>A	c.(892-894)Gag>Aag	p.E298K	CD6_ENST00000344028.5_Missense_Mutation_p.E298K|CD6_ENST00000346437.4_Missense_Mutation_p.E298K|CD6_ENST00000452451.2_Missense_Mutation_p.E298K|CD6_ENST00000352009.5_Missense_Mutation_p.E298K|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	298	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GTACCCATCGGAGGCCAAGGT	0.632000													13	22					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27297854	27297854	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:27297854C>T	ENST00000397501.1	+	26	2743	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	PTK2B_ENST00000346049.5_Silent_p.P645P|PTK2B_ENST00000544172.1_Silent_p.P645P|PTK2B_ENST00000517339.1_Silent_p.P645P|PTK2B_ENST00000420218.2_Silent_p.P645P|PTK2B_ENST00000397497.4_Silent_p.P391P|PTK2B_ENST00000338238.4_Silent_p.P645P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	645	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACCGGCTGCCCAAGCCTGATC	0.612000													35	46					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201297899	201297899	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:201297899G>A	ENST00000263946.3	+	14	2430	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	PKP1_ENST00000367324.3_Missense_Mutation_p.D706N|PKP1_ENST00000352845.3_Missense_Mutation_p.D727N	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	727					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	p.D706N(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCAAGGTTTCGATAGGAACAT	0.527000													30	108					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035885	56035885	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:56035885C>T	ENST00000244728.5	-	4	1079	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	COL21A1_ENST00000535941.1_Missense_Mutation_p.E228K|COL21A1_ENST00000370819.1_Missense_Mutation_p.E228K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	228					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AATCCCCTTTCATCACGAGCT	0.313000													23	36					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635725	39635725	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:39635725C>T	ENST00000246639.2	-	3	627	c.495G>A	c.(493-495)ctG>ctA	p.L165L	KRT35_ENST00000393989.1_Silent_p.L195L			Q92764	KRT35_HUMAN	keratin 35	195	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGACTCCACCAGCTGCCGCA	0.592000													34	70					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523210	92523210	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:92523210C>T	ENST00000298047.6	+	7	4454	c.4437C>T	c.(4435-4437)atC>atT	p.I1479I	FAT3_ENST00000525166.1_Silent_p.I1329I|FAT3_ENST00000409404.2_Silent_p.I1479I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1479	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACACGGAGATCCTGCAGATTG	0.443000										TCGA Ovarian(4;0.039)			24	95					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263084	167263084	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:167263084C>T	ENST00000409855.1	-	25	4181	c.4055G>A	c.(4054-4056)cGg>cAg	p.R1352Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1352					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTGAATGATCCGTGAGAGAAG	0.458000													34	39					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540214	5540214	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:5540214G>A	ENST00000382368.3	-	3	1809	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	FBXL18_ENST00000453700.3_Silent_p.S562S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	562									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCAGCGACAGGGACCGCAACT	0.642000													13	22					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863746	106863746	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:106863746G>A	ENST00000379987.2	+	8	1262	c.1046G>A	c.(1045-1047)aGg>aAg	p.R349K	NPNT_ENST00000514622.1_Missense_Mutation_p.R349K|NPNT_ENST00000506666.1_Missense_Mutation_p.R379K|NPNT_ENST00000305572.8_Missense_Mutation_p.R349K|NPNT_ENST00000453617.2_Missense_Mutation_p.R366K|NPNT_ENST00000427316.2_Missense_Mutation_p.R379K	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	349	Pro-rich.				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)		ACCCCAGAAAGGCCAACCACC	0.537000													13	36					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72678741	72678741	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:72678741G>A	ENST00000264839.7	+	2	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RIMS1_ENST00000517960.1_Missense_Mutation_p.E74K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E74K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E74K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E74K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E74K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E74K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E74K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	74	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAAATGCTGAAAACCAGCC	0.438000													29	50					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192473	51192473	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:51192473G>A	ENST00000293441.1	-	15	2046	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	SHANK1_ENST00000391814.1_Silent_p.F676F|SHANK1_ENST00000391813.1_Silent_p.F63F|SHANK1_ENST00000359082.3_Silent_p.F667F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	676	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGGAGCACGAACCCAAACC	0.612000													52	92					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128304396	128304396	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:128304396G>A	ENST00000368227.3	-	24	3795	c.3429C>T	c.(3427-3429)gtC>gtT	p.V1143V	PTPRK_ENST00000368215.3_Silent_p.V1125V|PTPRK_ENST00000368213.5_Silent_p.V1132V|PTPRK_ENST00000368207.3_Silent_p.V1158V|PTPRK_ENST00000532331.1_Silent_p.V1148V|PTPRK_ENST00000368210.3_Silent_p.V1144V|PTPRK_ENST00000368226.4_Silent_p.V1126V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1125					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTCTGTCTGGACCATATTAA	0.343000													10	8					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534224	6534224	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:6534224G>A	ENST00000377748.1	-	8	1168	c.670_splice	c.e8-1	p.A224_splice	PLEKHG5_ENST00000377728.3_Splice_Site_p.A147_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.A147_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.A147_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.A226_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.A224_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.A147_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.A203_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.A184_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.A147_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.A147_splice|PLEKHG5_ENST00000535355.1_Splice_Site_p.A216_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	203					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGGCTGGGGCTGCATGTGG	0.667000													15	16					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129217	83129217	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:83129217G>A	ENST00000329312.4	+	4	1538	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	501					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACACTCAAAGGAAAAGAAAGG	0.348000													10	2					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14069995	14069995	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:14069995C>T	ENST00000254337.6	+	7	944	c.923C>T	c.(922-924)tCt>tTt	p.S308F		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	308										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCGTTCTTCTGGGTCTCCT	0.697000													42	47					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676351	63676351	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:63676351C>T	ENST00000402010.2	+	19	2588	c.2009C>T	c.(2008-2010)cCt>cTt	p.P670L	MARK2_ENST00000315032.8_Missense_Mutation_p.P661L|MARK2_ENST00000425897.2_Missense_Mutation_p.P581L|MARK2_ENST00000377809.4_Missense_Mutation_p.P655L|MARK2_ENST00000502399.3_Missense_Mutation_p.P660L|MARK2_ENST00000361128.5_Missense_Mutation_p.P601L|MARK2_ENST00000377810.3_Missense_Mutation_p.P573L|MARK2_ENST00000509502.2_Missense_Mutation_p.P627L|MARK2_ENST00000408948.3_Missense_Mutation_p.P573L|MARK2_ENST00000513765.2_Missense_Mutation_p.P637L|MARK2_ENST00000508192.1_Missense_Mutation_p.P606L|MARK2_ENST00000413835.2_Missense_Mutation_p.P616L|MARK2_ENST00000350490.7_Missense_Mutation_p.P591L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	670					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCCACAGACCTCACGTGGTG	0.657000													4	15					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:56369416C>T	ENST00000301295.6	+	3	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_ENST00000346986.5_Silent_p.I219I|NLRP4_ENST00000587891.1_Silent_p.I144I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000													34	88					0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1656719	1656719	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:1656719G>A	ENST00000308132.6	-	4	1060	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	FAM53A_ENST00000489363.1_Silent_p.L290L|FAM53A_ENST00000472884.2_Silent_p.L290L|FAM53A_ENST00000461064.1_Silent_p.L290L	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	290						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GTCATTTTCAGGAAGTCCAAG	0.622000													12	38					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784310	82784310	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:82784310G>A	ENST00000423517.2	-	2	1984	c.1647C>T	c.(1645-1647)ccC>ccT	p.P549P	PCLO_ENST00000333891.8_Silent_p.P549P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	495	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGAGCCGAGGGCTTTGCTG	0.532000													100	237					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676174	183676174	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:183676174G>A	ENST00000511685.1	+	22	4777	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	TENM3_ENST00000406950.2_Missense_Mutation_p.D1552N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CAATGACAATGATATTACTGC	0.408000													12	13					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24421962	24421962	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:24421962C>T	ENST00000330966.7	-	8	925	c.763G>A	c.(763-765)Gat>Aat	p.D255N	MYOM3_ENST00000329601.7_Missense_Mutation_p.D254N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D254N|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	254										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGCCAGCATCCTTCCCCAGG	0.512000													44	39					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716423	18716423	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:18716423C>T	ENST00000433979.1	+	27	3886	c.3770C>T	c.(3769-3771)aCt>aTt	p.T1257I	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.T1257I|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.T1298I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1257	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCATCACTGACTCTCCCAGAG	0.398000													13	14					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57022943	57022943	+	Translation_Start_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:57022943G>A	ENST00000308031.5	+	2	136	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF471_ENST00000591537.1_Start_Codon_SNP_p.M1I|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGGCAAAAATGAATGTTGAAG	0.423000													12	25					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691939	106691939	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:106691939C>T	ENST00000390607.2	-	0	163																											TTGACCAGGCCTCCCCCAGAC	0.562000													33	96					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:99932099C>T	ENST00000524871.1	+	10	1426	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000													8	33					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4930757	4930757	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:4930757G>A	ENST00000592666.1	+	0	1014							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTCGGGACACGAACATGGGGG	0.642000													17	24					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385279	41385279	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr21:41385279C>T	ENST00000400454.1	-	33	6198	c.5721G>A	c.(5719-5721)atG>atA	p.M1907I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1907				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACAAAAAGTCCATTCTAAGGT	0.498000													18	39					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3149150	3149150	+	Silent	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:3149150T>C	ENST00000400569.3	-	13	2226	c.1893A>G	c.(1891-1893)gaA>gaG	p.E631E	MYOM1_ENST00000261606.7_Silent_p.E631E|MYOM1_ENST00000356443.4_Silent_p.E631E			P52179	MYOM1_HUMAN	myomesin 1	631						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCTGAAGGTTCCTCTTCAG	0.423000													15	22					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:55540733G>A	ENST00000220676.1	+	4	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1431					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1431K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTTCAGGATGAAAATGCATA	0.373000													16	33					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473146	2473146	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr7:2473146C>T	ENST00000258711.6	+	2	1007	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	291					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGCGCGAGGCCTTCCGCGCT	0.652000													36	55					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965151	9965151	+	Missense_Mutation	SNP	C	C	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9965151C>G	ENST00000264833.4	-	6	1261	c.1076G>C	c.(1075-1077)cGg>cCg	p.R359P	OLFM2_ENST00000590841.1_Missense_Mutation_p.R281P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	359	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCAGGACCGCATGACCTC	0.657000													34	61					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74666356	74666356	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:74666356G>A	ENST00000334011.5	+	4	765	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	183	EGF-like; calcium-binding (Potential).					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTCTGCAGATGAAAATGAATG	0.478000													46	99					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30987074	30987074	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:30987074G>A	ENST00000295055.8	-	6	799	c.623C>T	c.(622-624)tCc>tTc	p.S208F	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.S208F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	208	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTCCACAGGGGAAGAGTGCAG	0.577000													11	5					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128723	126128723	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:126128723C>T	ENST00000299308.3	+	6	1532	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TMEM132B_ENST00000535886.1_Silent_p.F20F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	508						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTCCCAGTTCGAGGTCACTG	0.527000													14	24					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767535	181767535	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:181767535C>T	ENST00000526775.1	+	46	6486	c.6321C>T	c.(6319-6321)ctC>ctT	p.L2107L	CACNA1E_ENST00000367573.2_Silent_p.L2169L|CACNA1E_ENST00000367567.4_Silent_p.L1733L|CACNA1E_ENST00000367570.1_Silent_p.L2126L|CACNA1E_ENST00000358338.5_Silent_p.L2058L|CACNA1E_ENST00000357570.5_Silent_p.L2120L|CACNA1E_ENST00000360108.3_Silent_p.L2150L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2169					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCGGCCCCTCCTTTCCTACA	0.632000													62	87					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54013895	54013895	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:54013895C>T	ENST00000514921.1	+	5	2339	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	MLIP_ENST00000274897.5_Silent_p.I218I|MLIP_ENST00000502396.1_Silent_p.I753I|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	218						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTGCAGCAATCCCTACAAACA	0.343000													11	40					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834197	168834197	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:168834197G>A	ENST00000464456.1	-	7	2099	c.899C>T	c.(898-900)tCt>tTt	p.S300F	MECOM_ENST00000433243.2_Missense_Mutation_p.S301F|MECOM_ENST00000494292.1_Missense_Mutation_p.S488F|MECOM_ENST00000468789.1_Missense_Mutation_p.S300F|MECOM_ENST00000460814.1_Missense_Mutation_p.S300F|MECOM_ENST00000264674.3_Missense_Mutation_p.S365F|MECOM_ENST00000472280.1_Missense_Mutation_p.S301F|MECOM_ENST00000392736.3_Missense_Mutation_p.S300F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAAGCTAAAAGAAAATCCAGG	0.478000													21	47					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221994	1221994	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:1221994C>T	ENST00000304460.10	+	12	1936	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	627					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCACAGCCTCCATGAACGGG	0.607000													18	23					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:24187543G>A	ENST00000265769.4	+	11	1128	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Missense_Mutation_p.E87K|ADAM28_ENST00000540823.1_Missense_Mutation_p.E107K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.E340K|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	340	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGCACATGAAATGGGCCA	0.408000													41	58					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274594	5274594	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:5274594G>A	ENST00000380259.2	-	8	1597	c.357C>T	c.(355-357)ttC>ttT	p.F119F	HBG2_ENST00000336906.4_Silent_p.F119F|HBG2_ENST00000380252.1_Silent_p.F109F					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCTTTGCCGAAATGGATTG	0.527000													7	19					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829283	57829283	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:57829283G>A	ENST00000371030.2	+	5	4519	c.4519G>A	c.(4519-4521)Gaa>Aaa	p.E1507K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1507						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATAGCCCAGGAAATTCACAG	0.512000													13	37					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527173	7527173	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:7527173C>T	ENST00000313599.3	-	13	3331	c.3274G>A	c.(3274-3276)Ggg>Agg	p.G1092R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G1092R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1102R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1092	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCCCTCCCCAAAGTGAGCA	0.622000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	13					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155546	22155546	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:22155546G>A	ENST00000397126.4	-	4	2438	c.2290C>T	c.(2290-2292)Ctt>Ttt	p.L764F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGAC	0.358000													12	21					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968060	106968060	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:106968060G>A	ENST00000369066.3	+	2	2240	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	585							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCACAGTAATGAACCTGAAGT	0.532000													26	51					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27356151	27356151	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:27356151G>A	ENST00000376087.4	-	10	1307	c.1142C>T	c.(1141-1143)cCa>cTa	p.P381L	ANKRD26_ENST00000436985.2_Missense_Mutation_p.P430L	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	381						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGCTCTAGTGGAGCACTTTC	0.294000													10	28					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944966	55944966	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:55944966C>T	ENST00000373965.2	-	13	1783	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.Q463Q|PCDH15_ENST00000320301.6_Silent_p.Q456Q|PCDH15_ENST00000395430.1_Silent_p.Q456Q|PCDH15_ENST00000395433.1_Silent_p.Q434Q|PCDH15_ENST00000395438.1_Silent_p.Q456Q|PCDH15_ENST00000361849.3_Silent_p.Q456Q|PCDH15_ENST00000437009.1_Silent_p.Q456Q|PCDH15_ENST00000373957.3_Silent_p.Q434Q|PCDH15_ENST00000395432.2_Silent_p.Q419Q|PCDH15_ENST00000395446.1_Silent_p.Q456Q|PCDH15_ENST00000409834.1_Silent_p.Q67Q|PCDH15_ENST00000414778.1_Silent_p.Q461Q|PCDH15_ENST00000373955.1_Silent_p.Q456Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	456	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATACCAGTCTGTGTGACGG	0.393000										HNSCC(58;0.16)			28	51					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213301	9213301	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9213301C>T	ENST00000305456.2	-	1	681	c.682G>A	c.(682-684)Ggt>Agt	p.G228S		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GGAACACCACCAAATATGCAA	0.443000													40	63					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765648	66765648	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:66765648C>T	ENST00000374690.3	+	1	1184	c.660C>T	c.(658-660)tcC>tcT	p.S220S	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.S220S|AR_ENST00000504326.1_Silent_p.S220S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	218	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTCCCACTTCCTCCAAGGACA	0.597000									Androgen Insensitivity Syndrome				11	6					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328525	80328525	+	Missense_Mutation	SNP	T	T	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:80328525T>G	ENST00000358842.3	-	1	847	c.830A>C	c.(829-831)aAc>aCc	p.N277T		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	277					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCATAGGTGTTTTTGGCTTG	0.463000													43	44					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51799061	51799061	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:51799061C>T	ENST00000371117.3	-	37	6243	c.5968G>A	c.(5968-5970)Gtt>Att	p.V1990I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1990I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1990	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCATCAGAAACAAGGATGGCG	0.532000											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	56					0	0	1	0	0
RAPSN	5913	broad.mit.edu	37	11	47469700	47469700	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:47469700G>A	ENST00000298854.2	-	2	408	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RAPSN_ENST00000529341.1_Silent_p.F65F|RAPSN_ENST00000524487.1_Silent_p.F65F|RAPSN_ENST00000352508.3_Silent_p.F65F	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	65					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGACCACAGCGAACTGCACAC	0.647000													12	10					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419976	56419976	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:56419976C>T	ENST00000407595.2	+	2	1143	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	214										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACCTCCAGCACTGGC	0.697000													29	30					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494184	55494184	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:55494184G>A	ENST00000543010.1	+	6	1261	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	NLRP2_ENST00000391721.4_Missense_Mutation_p.G349E|NLRP2_ENST00000538819.1_Missense_Mutation_p.G349E|NLRP2_ENST00000537859.1_Missense_Mutation_p.G351E|NLRP2_ENST00000448584.2_Missense_Mutation_p.G373E|NLRP2_ENST00000427260.2_Missense_Mutation_p.G350E|NLRP2_ENST00000339757.7_Missense_Mutation_p.G351E|NLRP2_ENST00000263437.6_Missense_Mutation_p.G370E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	373	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGACACTTTGGAGACGAGGAC	0.632000													20	27					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921105	24921105	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:24921105G>A	ENST00000329468.2	+	1	565	c.91G>A	c.(91-93)Gac>Aac	p.D31N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGTCCCGGGACGCCTCCCC	0.697000													7	12					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47589110	47589110	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:47589110G>A	ENST00000273859.3	+	22	4097	c.3828G>A	c.(3826-3828)atG>atA	p.M1276I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1276					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGGAGCCATGTGTGTAACTT	0.423000													18	55					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190147385	190147385	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:190147385C>T	ENST00000354905.2	-	5	506	c.440G>A	c.(439-441)tGa>tAa	p.*147*		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	0						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		CACCTAAAATCAGGTTGTTTT	0.373000													14	25					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353847	57353847	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:57353847C>T	ENST00000314922.3	-	2	864	c.788G>A	c.(787-789)gGa>gAa	p.G263E	PENK_ENST00000451791.2_Missense_Mutation_p.G263E	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	263					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCTCATAAATCCTCCGTATCT	0.478000													41	94					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53555603	53555603	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:53555603G>A	ENST00000371494.4	-	9	1357	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	410						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CAGTGGCTGTGATACTGCAGG	0.642000													15	57					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797724	148797724	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:148797724C>T	ENST00000355220.5	+	5	680	c.578C>T	c.(577-579)tCt>tTt	p.S193F	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S164F	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	193						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGCCTATCTGATGAGGGC	0.532000													33	9					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239757	21239757	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:21239757C>T	ENST00000380222.2	-	1	221	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGGGGAAATTCAAAGTCATGT	0.478000													48	33					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484596	57484596	+	Missense_Mutation	SNP	A	A	T	rs121913494		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:57484596A>T	ENST00000371100.4	+	9	3161	c.2609A>T	c.(2608-2610)cAg>cTg	p.Q870L	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.Q227L|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228L|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856L|GNAS_ENST00000265620.7_Missense_Mutation_p.Q212L|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213L|GNAS_ENST00000306090.10_Missense_Mutation_p.Q213L	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	227					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Q227L(10)|p.Q227R(8)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTGGGTGGCCAGCGCGATGAA	0.507000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	32					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156304	155156304	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr4:155156304C>T	ENST00000357232.3	-	25	8134	c.8135G>A	c.(8134-8136)gGa>gAa	p.G2712E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2712					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCCTTGATCTCCTTCCCCAAA	0.527000													11	73					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261524	6261524	+	Missense_Mutation	SNP	T	T	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:6261524T>C	ENST00000379936.2	+	4	615	c.500T>C	c.(499-501)tTt>tCt	p.F167S	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	167					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAAATGCCTTTCGCATTGCC	0.587000													19	78					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158653262	158653262	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:158653262G>A	ENST00000368148.3	-	3	469	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	SPTA1_ENST00000368147.3_Missense_Mutation_p.L97F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	97					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCTTCAAGGGATTGATGC	0.398000													24	37					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849078	73849078	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:73849078G>A	ENST00000523207.1	+	3	2076	c.1488G>A	c.(1486-1488)agG>agA	p.R496R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	496					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTGGGCCAGGAAGGCTCTGT	0.532000													49	73					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40864381	40864381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:40864381G>A	ENST00000428826.2	-	12	1448	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	EZH1_ENST00000415827.2_Nonsense_Mutation_p.R434*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R373*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R403*|EZH1_ENST00000592743.1_Nonsense_Mutation_p.R443*|EZH1_ENST00000435174.1_Nonsense_Mutation_p.R304*			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	443					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	p.R443*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGGAAGACTCGAAAAAGAGAT	0.522000													32	71					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904090	60904090	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:60904090G>A	ENST00000252999.3	-	34	4323	c.4257C>T	c.(4255-4257)ttC>ttT	p.F1419F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1419	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTTCGGCAGAACAGGGATG	0.657000													9	45					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192414	152192414	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152192414C>T	ENST00000368801.2	-	3	1766	c.1691G>A	c.(1690-1692)gGc>gAc	p.G564D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	564					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)			CCTCCCTGAGCCATACCCATG	0.592000													28	196					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41752707	41752707	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:41752707G>A	ENST00000359201.5	+	4	864	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.R92Q|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.R52Q|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.R52Q|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.R92Q			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	52	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGGAGGAGCGGGCCGAGCTG	0.597000													31	48					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713347	40713347	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr20:40713347C>T	ENST00000373198.3	-	30	4412	c.4177G>A	c.(4177-4179)Gag>Aag	p.E1393K	PTPRT_ENST00000373190.1_Missense_Mutation_p.E1370K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1374K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1361K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1371K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E1380K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1381K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1371	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTACGTCCCTCCCTCCCGTCA	0.612000													8	15					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946087	50946087	+	Missense_Mutation	SNP	A	A	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:50946087A>C	ENST00000374103.4	-	19	2508	c.2423T>G	c.(2422-2424)cTc>cGc	p.L808R	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.L751R|OGDHL_ENST00000432695.1_Missense_Mutation_p.L599R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	808					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCAGTCATAGAGCTGGCTCAC	0.617000													98	141					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182412547	182412547	+	Splice_Site	SNP	A	A	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:182412547A>G	ENST00000410087.3	-	9	1260		c.e9+1		CERKL_ENST00000374969.2_Splice_Site|CERKL_ENST00000339098.5_Splice_Site|CERKL_ENST00000409440.3_Splice_Site|CERKL_ENST00000374970.2_Splice_Site|CERKL_ENST00000479558.1_Splice_Site	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTTCGACTCACCAGATTTGG	0.408000													45	80					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760228	38760228	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:38760228G>A	ENST00000449082.2	-	20	3596	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1199					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCAGCATCTCGAACACAAAGA	0.498000													26	50					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004401	94004401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:94004401G>T	ENST00000553484.1	+	12	1343	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.G220*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.G397*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.G397*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	397						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTCGTCACGGAAACAGGCC	0.507000													16	44					3.99206e-14	4.03798e-14	1	1	0
ZFP36L1	677	broad.mit.edu	37	14	69262806	69262806	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:69262806C>T	ENST00000408913.2	-	1	384	c.206G>A	c.(205-207)gGa>gAa	p.G69E				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	330					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACTGCCGCTTCCGACCGGGAG	0.751000													8	13					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952861	54952861	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr3:54952861G>A	ENST00000273286.5	-	3	825	c.663C>T	c.(661-663)ctC>ctT	p.L221L	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.L145L|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	221	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGATCCTAAGGAGGTCCTTTC	0.532000													8	18					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061295	73061295	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:73061295G>A	ENST00000429829.1	-	0	11293					NR_001564.2																						GAGCTGGGCCGATCTTTTGAC	0.413000													28	6					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173339772	173339772	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:173339772C>T	ENST00000375221.2	+	8	1422	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	ITGA6_ENST00000264107.7_Missense_Mutation_p.R368C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R363C|ITGA6_ENST00000264106.6_Missense_Mutation_p.R407C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R249C|ITGA6_ENST00000409080.1_Missense_Mutation_p.R368C			P23229	ITA6_HUMAN	integrin, alpha 6	407					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GAAGCCAATTCGTCTTAATGG	0.378000													6	31					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534223	6534223	+	Splice_Site	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:6534223G>A	ENST00000377748.1	-	8	1169	c.670_splice	c.e8-1	p.A224_splice	PLEKHG5_ENST00000377728.3_Splice_Site_p.A147_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.A147_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.A147_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.A226_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.A224_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.A147_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.A203_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.A184_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.A147_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.A147_splice|PLEKHG5_ENST00000535355.1_Splice_Site_p.A216_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	203					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTGGCTGGGGCTGCATGTG	0.667000													15	17					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658526	210658526	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:210658526C>T	ENST00000439458.1	+	7	961	c.881C>T	c.(880-882)tCc>tTc	p.S294F	UNC80_ENST00000272845.5_Missense_Mutation_p.S294F|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	294						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGAGGAAACTCCTTTGATGGA	0.493000													10	53					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24429325	24429325	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:24429325C>T	ENST00000230036.1	-	25	2568	c.2458G>A	c.(2458-2460)Gga>Aga	p.G820R		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	820						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GAACTCCTTCCAGCAGCAATG	0.488000													14	33					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71740931	71740931	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:71740931G>A	ENST00000258104.3	+	6	820	c.543G>A	c.(541-543)ggG>ggA	p.G181G	DYSF_ENST00000429174.2_Silent_p.G181G|DYSF_ENST00000413539.2_Silent_p.G212G|DYSF_ENST00000409582.3_Silent_p.G212G|DYSF_ENST00000410020.3_Silent_p.G213G|DYSF_ENST00000410041.1_Silent_p.G213G|DYSF_ENST00000409762.1_Silent_p.G212G|DYSF_ENST00000409651.1_Silent_p.G213G|DYSF_ENST00000409366.1_Silent_p.G182G|DYSF_ENST00000394120.2_Silent_p.G182G|DYSF_ENST00000409744.1_Silent_p.G182G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	181						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G213G(1)|p.G181G(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGCCCGGGGGCTCCCACCA	0.592000													20	27					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122648694	122648694	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:122648694C>T	ENST00000263461.6	+	17	2472	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	742						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCAGAGTATCCAGGTATAAGC	0.363000													34	24					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188614	140188614	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140188614G>A	ENST00000530339.1	+	1	1842	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	PCDHA4_ENST00000356878.4_Silent_p.G614G|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.G614G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCGGGGACTGGTGGCG	0.682000													29	59					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573889	64573889	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr10:64573889G>A	ENST00000242480.3	-	2	834	c.509C>T	c.(508-510)cCt>cTt	p.P170L	EGR2_ENST00000439032.1_Missense_Mutation_p.P170L|EGR2_ENST00000411732.1_Missense_Mutation_p.P120L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	170					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGAGGAGGAGGCGGTGGCGG	0.632000													41	65					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966440	58966440	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:58966440C>T	ENST00000391696.1	+	3	1031	c.99C>T	c.(97-99)ttC>ttT	p.F33F	ZNF324B_ENST00000336614.4_Intron|ZNF324B_ENST00000545523.1_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	184	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCTTCTTTTTCCCTAAGCTTT	0.612000													6	18					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230411721	230411721	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:230411721C>T	ENST00000341772.4	-	5	1069	c.935G>A	c.(934-936)aGt>aAt	p.S312N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	312	EGF-like 3.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTTGCGTGACTCTCCCCCGG	0.453000													68	25					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040307	247040307	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:247040307C>T	ENST00000366508.1	-	23	3123	c.2987G>A	c.(2986-2988)cGt>cAt	p.R996H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R961H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R970H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	961					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATAATTGGCACGCTGCAAATG	0.368000													9	60					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416090	5416090	+	Silent	SNP	G	G	C			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:5416090G>C	ENST00000341928.2	-	13	2134	c.1794C>G	c.(1792-1794)tcC>tcG	p.S598S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Silent_p.S598S|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	598	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATCTAGGAGGGAGGGGAATG	0.547000													25	27					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238598	48238598	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:48238598C>T	ENST00000309562.2	+	1	255	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCCTAAATTCATCATAGACT	0.448000													30	96					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378853	55378853	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:55378853C>T	ENST00000398661.2	-	6	756	c.625G>A	c.(625-627)Gca>Aca	p.A209T	HMGCLL1_ENST00000428842.1_Missense_Mutation_p.A147T|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A179T|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.A147T|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	209							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACCCTCGTGCTGGAATATTC	0.303000													21	38					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733201	152733201	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:152733201C>T	ENST00000368773.1	+	2	1195	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	KPRP_ENST00000606109.1_Silent_p.L379L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	379	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)			CACGTCCACTCCCAAGCTTCT	0.647000													31	45					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439446	145439446	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:145439446C>T	ENST00000511217.1	+	8	1625	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.P525S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	525							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCAGAGACCCCTCCAGTC	0.612000													23	41					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158978093	158978093	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:158978093C>T	ENST00000605860.1	+	8	844	c.798C>T	c.(796-798)ctC>ctT	p.L266L	UPP2_ENST00000409859.4_Silent_p.L266L|UPP2_ENST00000005756.4_Silent_p.L209L|UPP2_ENST00000460456.1_Intron			O95045	UPP2_HUMAN	uridine phosphorylase 2	209					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L209L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TCCCAACCCTCGTTGGACATA	0.378000													18	54					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1257738	1257738	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:1257738C>T	ENST00000447027.1	+	24	3070	c.3012C>T	c.(3010-3012)gcC>gcT	p.A1004A	MUC5B_ENST00000529681.1_Silent_p.A1001A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1001	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGGATGGCCGTGTCCTGGG	0.632000													6	36					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676967	234676967	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:234676967G>A	ENST00000360418.3	+	4	1186	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	UGT1A7_ENST00000373426.3_Missense_Mutation_p.D393N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D393N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D393N|UGT1A6_ENST00000305139.6_Missense_Mutation_p.D395N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D397N|UGT1A10_ENST00000373445.1_Missense_Mutation_p.D393N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D397N|UGT1A8_ENST00000373450.4_Missense_Mutation_p.D393N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D128N|UGT1A6_ENST00000406651.1_Missense_Mutation_p.D128N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D397N|UGT1A1_ENST00000305208.5_Missense_Mutation_p.D396N			P22309	UD11_HUMAN		396					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTTGTTTGGTGATCAGATGGA	0.468000													51	23					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41899486	41899486	+	Nonsense_Mutation	SNP	G	G	T	rs147498088		TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr6:41899486G>T	ENST00000230340.4	+	6	1261	c.886G>T	c.(886-888)Gag>Tag	p.E296*		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	296					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCACTGTGCGAGTCTGGCAC	0.557000													52	67					2.23044e-30	2.26167e-30	1	1	0
ZNF699	374879	broad.mit.edu	37	19	9407453	9407453	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:9407453G>A	ENST00000591998.1	-	6	855	c.627C>T	c.(625-627)tcC>tcT	p.S209S	ZNF699_ENST00000308650.3_Silent_p.S209S			Q32M78	ZN699_HUMAN	zinc finger protein 699	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACTCTTAAGGGATGAATGAT	0.423000													41	86					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431630	89431630	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:89431630C>T	ENST00000532352.1	+	0	1912							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGAGTCATTCCCAGGAATTTA	0.438000													20	54					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906495	12906495	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chrX:12906495G>A	ENST00000380659.3	+	3	3007	c.2868G>A	c.(2866-2868)gtG>gtA	p.V956V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	956	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAGTGTTTGTGATGACAGACA	0.383000													89	40					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958719	53958719	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:53958719C>T	ENST00000454407.1	+	0	1411							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAGGATAATTCATACTGAAGA	0.383000													21	66					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111406903	111406903	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:111406903G>A	ENST00000535254.1	-	18	2262	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	BUB1_ENST00000409311.1_Missense_Mutation_p.S752F|BUB1_ENST00000302759.6_Missense_Mutation_p.S752F	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	752					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AGAAAGCCCAGATAAAAGTTT	0.353000													38	42					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43865642	43865642	+	RNA	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr19:43865642C>T	ENST00000378009.4	+	0	1153				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGTGTGCAGCCCCTTGGAACC	0.607000													15	19					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604894	179604894	+	Silent	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:179604894C>T	ENST00000444136.1	+	9	1642	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	TDRD5_ENST00000367614.1_Silent_p.L464L|TDRD5_ENST00000294848.8_Silent_p.L464L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	464					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TATGCAGACTCCCACCATTAG	0.448000													32	31					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004402	94004402	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr14:94004402G>A	ENST00000553484.1	+	12	1344	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E	UNC79_ENST00000256339.4_Missense_Mutation_p.G220E|UNC79_ENST00000555664.1_Missense_Mutation_p.G397E|UNC79_ENST00000393151.2_Missense_Mutation_p.G397E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	397						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGTCGTCACGGAAACAGGCCT	0.507000													15	47					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556543	52556543	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr18:52556543G>A	ENST00000262094.5	+	6	1077	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	186					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GAAGCGAATGGAACAGTGTGT	0.413000													22	30					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558676	118558676	+	Missense_Mutation	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr1:118558676C>T	ENST00000336338.5	-	29	4264	c.4199G>A	c.(4198-4200)gGa>gAa	p.G1400E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1400						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCCGATTTCCTTCAGGTGT	0.478000													39	19					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2334958	2334958	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:2334958G>A	ENST00000301732.5	-	24	4225	c.3525C>T	c.(3523-3525)gaC>gaT	p.D1175D	ABCA3_ENST00000382381.3_Silent_p.D1117D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1175					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGTGGCCGTCCCGCGTGA	0.632000													29	15					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23932610	23932610	+	Silent	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr13:23932610G>A	ENST00000382298.3	-	7	1056	c.468C>T	c.(466-468)ctC>ctT	p.L156L	SACS_ENST00000382292.3_Silent_p.L156L|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	156					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACACATAGAGAGCTGGCC	0.448000													39	86					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27900715	27900715	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:27900715G>A	ENST00000326019.6	+	8	1969	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	563						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAACTTTTGAACTGAGGAA	0.368000													16	37					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7723015	7723015	+	RNA	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:7723015G>A	ENST00000454689.1	-	0	566				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTGTGAGAGGACGCCACCTG	0.488000													6	6					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111351991	111351991	+	Splice_Site	SNP	C	C	T			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr12:111351991C>T	ENST00000228841.8	-	4	320	c.274_splice	c.e4+1	p.K91_splice	MYL2_ENST00000548438.1_Splice_Site_p.K77_splice	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	91					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						cGACCTTACCCTTAAGTTTCT	0.428000													23	28					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62182382	62182382	+	Missense_Mutation	SNP	G	G	A			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:62182382G>A	ENST00000261517.5	-	67	9396	c.9323C>T	c.(9322-9324)tCc>tTc	p.S3108F	VPS13C_ENST00000249837.3_Missense_Mutation_p.S3065F|VPS13C_ENST00000395898.3_Missense_Mutation_p.S3065F|VPS13C_ENST00000395896.4_Missense_Mutation_p.S3108F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3108					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCCAATATAGGAAACTTCCTG	0.378000													6	26					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25967158	25967184	+	In_Frame_Del	DEL	GCTGCAGCAGCTGCGGCGGCAGCGGCA	GCTGCAGCAGCTGCGGCGGCAGCGGCA	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:25967158_25967184delGCTGCAGCAGCTGCGGCGGCAGCGGCA	ENST00000435504.4	-	13	2315_2341	c.2022_2048delTGCCGCTGCCGCCGCAGCTGCTGCAGC	c.(2020-2049)gcc>gc	p.AAAAAAAAAA674del	ASXL2_ENST00000336112.4_In_Frame_Del_p.AAAAAAAAAA646del|ASXL2_ENST00000404843.1_In_Frame_Del_p.AAAAAAAAAA414del|ASXL2_ENST00000272341.4_In_Frame_Del_p.AAAAAAAAAA414del			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	674	Ala-rich.				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)					AACTGAGGCGGCTGCAGCAGCTGCGGCGGCAGCGGCAGCTGCTGCCC	0.599													17	71	---	---	---	---					
ERCC3	2071	broad.mit.edu	37	2	128047316	128047317	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr2:128047316_128047317delAG	ENST00000493187.2	-	5	876_877	c.413_414delCT	c.(412-414)tfs	p.S138fs	ERCC3_ENST00000285398.2_Frame_Shift_Del_p.S202fs			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	202					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCTCCCCTTCAGAGTTTCTTAA	0.535			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	42	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													4	4	---	---	---	---					
KCNS2	3788	broad.mit.edu	37	8	99440867	99440879	+	Frame_Shift_Del	DEL	CCCTGGCGAGGAC	CCCTGGCGAGGAC	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:99440867_99440879delCCCTGGCGAGGAC	ENST00000287042.4	+	2	1010_1022	c.660_672delCCCTGGCGAGGAC	c.(658-672)aafs	p.NPGED220fs	KCNS2_ENST00000521839.1_Frame_Shift_Del_p.NPGED220fs	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	220						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCCAGGGCAACCCTGGCGAGGACCCTAGGTTCG	0.554													12	88	---	---	---	---					
CPSF1	29894	broad.mit.edu	37	8	145622421	145622421	+	Splice_Site	DEL	C	C	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr8:145622421delC	ENST00000349769.3	-	23	2687		c.e23+1			NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCGCACTCACCAGCAGGTAG	0.741													2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974699	21974700	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr9:21974699_21974700delCT	ENST00000304494.5	-	1	397_398	c.127_128delAG	c.(127-129)tfs	p.S43fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.S43fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.S43fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.S43fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	43					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCGTAACTATTCGGTGCG	0.688		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			75	62	---	---	---	---					
CCDC90B	60492	broad.mit.edu	37	11	82985684	82985685	+	In_Frame_Ins	INS	-	-	AAA			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr11:82985684_82985685insAAA	ENST00000529689.1	-	4	857_858	c.423_424insTTT	c.(421-426)aaagaa>aaTTTagaa	p.141_141K>NL	CCDC90B_ENST00000529611.1_In_Frame_Ins_p.40_40K>NL|CCDC90B_ENST00000455220.2_In_Frame_Ins_p.132_132K>NL|CCDC90B_ENST00000529073.1_In_Frame_Ins_p.141_141K>NL|CCDC90B_ENST00000525503.1_In_Frame_Ins_p.40_40K>NL			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	141						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				tGTATCACCTCATTCTCTGCTC	0.317													10	10	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34129961	34129961	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr15:34129961delC	ENST00000389232.4	+	89	11850	c.11780delC	c.(11779-11781)acfs	p.T3927fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.T3922fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3927	EF-hand.				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)		AGCTCAGACACCTTCAAAGAA	0.388													7	10	---	---	---	---					
UBFD1	56061	broad.mit.edu	37	16	23578329	23578330	+	Frame_Shift_Ins	INS	-	-	G			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr16:23578329_23578330insG	ENST00000395878.3	+	6	1139_1140	c.758_759insG	c.(757-759)aggfs	p.R253fs	UBFD1_ENST00000219638.4_Frame_Shift_Ins_p.R477fs|UBFD1_ENST00000567212.1_Frame_Shift_Ins_p.R244fs	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	253										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAATTGCCCATGGGCTCCATAA	0.480													38	48	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-RP-A695-06A-11D-A30X-08	TCGA-RP-A695-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7221fc91-c528-44b4-90b1-f01e8b98d33c	5776c425-b3e4-40f9-93cb-fc405ad33e6e	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													3	4	---	---	---	---