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
TTBK1	84630	broad.mit.edu	37	6	43251506	43251506	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:43251506G>T	ENST00000259750.4	+	14	3111	c.3028G>T	c.(3028-3030)Gcc>Tcc	p.A1010S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1010						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A1010S(1)|p.A1010T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCAGAGATGGCCACAAACTC	0.682000													7	48					5.18039e-06	7.95086e-06	0.278610	1	0
KRT28	162605	broad.mit.edu	37	17	38955177	38955177	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:38955177G>T	ENST00000306658.7	-	2	590	c.525C>A	c.(523-525)ttC>ttA	p.F175L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	175	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.F175L(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ACTTTAGCCTGAAATCATCAG	0.323000													8	88					1.12685e-05	1.67429e-05	0.307466	1	0
KCNQ2	3785	broad.mit.edu	37	20	62076626	62076626	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:62076626C>A	ENST00000354587.3	-	3	655	c.479G>T	c.(478-480)cGg>cTg	p.R160L	KCNQ2_ENST00000370221.1_Missense_Mutation_p.R160L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.R160L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R160L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R160L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R160L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.R160L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R160L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R160L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.R160L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R160L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R160L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	160					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R160L(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AAACTTGAGCCGCCCCCTCCA	0.627000													7	44					8.12818e-05	0.000110935	0.248553	1	0
ADH7	131	broad.mit.edu	37	4	100341786	100341786	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:100341786G>T	ENST00000437033.2	-	6	1232	c.729C>A	c.(727-729)ccC>ccA	p.P243P	ADH7_ENST00000476959.1_Silent_p.P263P|ADH7_ENST00000482593.1_Silent_p.P186P|ADH7_ENST00000209665.4_Silent_p.P255P			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	255					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.P263P(1)|p.P255P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TAGAGTCCTTGGGACTGATAC	0.468000													8	76					0.00621372	0.00721204	0.335167	1	0
OR5T2	219464	broad.mit.edu	37	11	55999689	55999689	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:55999689T>A	ENST00000313264.4	-	1	1048	c.973A>T	c.(973-975)Aat>Tat	p.N325Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	325					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N325Y(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATGACGGGATTCAGCAAGGGA	0.358000													10	87					0	0	0.361761	0	0
LRGUK	136332	broad.mit.edu	37	7	133884067	133884067	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:133884067A>T	ENST00000285928.2	+	14	1710	c.1641A>T	c.(1639-1641)aaA>aaT	p.K547N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	547	Guanylate kinase-like.						ATP binding|kinase activity	p.K547N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGCGGAGAAAAGGATTATTCA	0.368000													6	130					0	0	0.217242	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724645	38724645	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:38724645G>T	ENST00000342213.2	-	1	929	c.583C>A	c.(583-585)Ccc>Acc	p.P195T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	195						integral to membrane	sugar binding	p.P195T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGCTGGAAGGGCGCGCGATAG	0.647000													15	68					1.5739e-10	3.0816e-10	0.500413	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777116	18777116	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:18777116C>A	ENST00000380548.4	+	19	3228	c.2889C>A	c.(2887-2889)ggC>ggA	p.G963G		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	963	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G963G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCATCGGAGGCAACCGCAAGC	0.647000													3	58					0.115264	0.120438	0.115264	1	0
FLG	2312	broad.mit.edu	37	1	152285039	152285039	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:152285039G>T	ENST00000368799.1	-	3	2358	c.2323C>A	c.(2323-2325)Cac>Aac	p.H775N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	775	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H775N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCTTGGTGGCTCTGCTGA	0.562000									Ichthyosis				15	348					6.72482e-11	1.3291e-10	0.479597	1	0
GPR112	139378	broad.mit.edu	37	X	135455096	135455096	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:135455096T>A	ENST00000394143.1	+	15	7940	c.7649T>A	c.(7648-7650)aTg>aAg	p.M2550K	GPR112_ENST00000412101.1_Missense_Mutation_p.M2345K|GPR112_ENST00000394141.1_Missense_Mutation_p.M2345K|GPR112_ENST00000370652.1_Missense_Mutation_p.M2550K|GPR112_ENST00000287534.4_Missense_Mutation_p.M2348K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2550					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M2550K(1)		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)					GGTCACAAGATGGAGTTTTCT	0.498000													38	157					0	0	0.819951	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961365	51961365	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:51961365G>T	ENST00000321424.3	-	1	343	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Q93K|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Q93K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	93	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.Q93K(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AATCGGCCCTGGGTCTCTGCC	0.557000													38	86					3.3946e-10	6.58489e-10	0.812448	1	0
OR1F1	4992	broad.mit.edu	37	16	3254471	3254471	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:3254471C>A	ENST00000304646.2	+	1	225	c.225C>A	c.(223-225)ttC>ttA	p.F75L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	75			F -> S (in dbSNP:rs1834026).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F75L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GCTTCTCCTTCACCACCGTCC	0.507000													4	84					0.014758	0.0161031	0.184627	1	0
MYH13	8735	broad.mit.edu	37	17	10258026	10258026	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:10258026C>A	ENST00000418404.3	-	10	1139	c.976G>T	c.(976-978)Gat>Tat	p.D326Y	MYH13_ENST00000252172.4_Missense_Mutation_p.D326Y|MYH13_ENST00000570743.1_Missense_Mutation_p.D326Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	326	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.D326Y(2)|p.D326N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCACTGTCATCGATACTGGCT	0.453000													9	44					2.17888e-05	3.16996e-05	0.335167	1	0
SNTB2	6645	broad.mit.edu	37	16	69304105	69304105	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:69304105G>C	ENST00000336278.4	+	4	1103	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	355	PH 2.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	p.K355N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		TGACTGAGAAGGATTTGCTGC	0.468000													17	66					0	0	0.520397	0	0
MITF	4286	broad.mit.edu	37	3	70014210	70014210	+	Silent	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:70014210G>C	ENST00000352241.4	+	10	1537	c.1374G>C	c.(1372-1374)ggG>ggC	p.G458G	MITF_ENST00000394351.3_Silent_p.G357G|MITF_ENST00000328528.6_Silent_p.G457G|MITF_ENST00000314557.6_Silent_p.G351G|MITF_ENST00000472437.1_Silent_p.G406G|MITF_ENST00000531774.1_Silent_p.G295G|MITF_ENST00000314589.5_Silent_p.G442G|MITF_ENST00000394355.2_Silent_p.G433G|MITF_ENST00000448226.2_Silent_p.G464G	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	464					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.G458G(1)|p.G357G(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCGGAACTGGGACTGAGGCCA	0.522000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						7	28					0	0	0.278610	0	0
MBD6	114785	broad.mit.edu	37	12	57919593	57919593	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:57919593A>C	ENST00000355673.3	+	6	1198	c.842A>C	c.(841-843)cAc>cCc	p.H281P	MBD6_ENST00000431731.2_Missense_Mutation_p.H281P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	281	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding	p.H281P(3)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCCCCGCCCACCCTGGTCCT	0.662000													8	46					0	0	0.457914	0	0
OR2A25	392138	broad.mit.edu	37	7	143771411	143771411	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:143771411C>A	ENST00000408898.2	+	1	137	c.99C>A	c.(97-99)ttC>ttA	p.F33L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F33_Y34>LN(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTCCCTGTTCTACATCTTCA	0.527000													12	54					2.80697e-09	5.25055e-09	0.387290	1	0
MYOCD	93649	broad.mit.edu	37	17	12656293	12656293	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:12656293T>A	ENST00000425538.1	+	10	1888	c.1688T>A	c.(1687-1689)cTg>cAg	p.L563Q	MYOCD_ENST00000343344.4_Missense_Mutation_p.L563Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.L467Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	563					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	p.L563Q(2)		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)		AAGAAGCCGCTGCCTTTCCTG	0.522000													14	36					0	0	0.479597	0	0
FLT4	2324	broad.mit.edu	37	5	180048747	180048747	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:180048747C>A	ENST00000261937.6	-	13	1893	c.1815G>T	c.(1813-1815)ccG>ccT	p.P605P	FLT4_ENST00000502649.1_Silent_p.P605P|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.P605P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	605	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P605P(2)|p.P415P(1)		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)	CGAGCAGAAGCGGGTTCCCGT	0.662000													4	44					0.014758	0.0161031	0.184627	1	0
HNF1A	6927	broad.mit.edu	37	12	121434172	121434172	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:121434172G>T	ENST00000257555.6	+	5	1289	c.1063G>T	c.(1063-1065)Ggc>Tgc	p.G355C	HNF1A_ENST00000544413.1_Missense_Mutation_p.G355C|HNF1A_ENST00000543427.1_Missense_Mutation_p.G238C|HNF1A_ENST00000402929.1_Missense_Mutation_p.G355C|HNF1A_ENST00000400024.2_Missense_Mutation_p.G355C|HNF1A_ENST00000541395.1_Missense_Mutation_p.G355C|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	355					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.G355C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCCCCCACGGGCCTGGAGCC	0.577000									Hepatic Adenoma, Familial Clustering of				11	59					4.36969e-10	8.28462e-10	0.435327	1	0
ZNF281	23528	broad.mit.edu	37	1	200376396	200376396	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:200376396T>A	ENST00000294740.2	-	2	2562	c.2438A>T	c.(2437-2439)cAg>cTg	p.Q813L	ZNF281_ENST00000367352.3_Missense_Mutation_p.Q777L|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q813L	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	813					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q813L(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGGATCTATCTGGCTAGCTAA	0.453000													6	96					0	0	0.278610	0	0
ITPR1	3708	broad.mit.edu	37	3	4711438	4711438	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:4711438G>T	ENST00000302640.8	+	18	2292	c.1942G>T	c.(1942-1944)Gac>Tac	p.D648Y	ITPR1_ENST00000456211.2_Missense_Mutation_p.D648Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.D663Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.D663Y|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D648Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.D663Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	663					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	p.D648Y(2)|p.D663Y(1)		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)		CACCAACGCTGACATCCTGAT	0.468000													3	15					0.004672	0.00545284	0.115264	1	0
OR4A15	81328	broad.mit.edu	37	11	55135670	55135670	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:55135670C>A	ENST00000314706.3	+	1	311	c.311C>A	c.(310-312)gCa>gAa	p.A104E		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A104E(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TATTCTACTGCATTTGCTCCC	0.413000													27	113					1.39806e-14	3.00403e-14	0.729181	1	0
PLCZ1	89869	broad.mit.edu	37	12	18848012	18848012	+	Splice_Site	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:18848012C>A	ENST00000266505.7	-	12	1556	c.1291_splice	c.e12-1	p.V431_splice	PLCZ1_ENST00000541695.1_Splice_Site_p.V294_splice|PLCZ1_ENST00000435379.1_Splice_Site_p.V236_splice|PLCZ1_ENST00000538330.1_Splice_Site_p.V213_splice|PLCZ1_ENST00000539875.1_Splice_Site_p.V238_splice|PLCZ1_ENST00000447925.2_Splice_Site_p.V429_splice			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	431	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V431V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATTTAAAGCCACTGTAAGAA	0.353000													6	42					0.00116845	0.00146143	0.217242	1	0
CTRC	11330	broad.mit.edu	37	1	15771105	15771105	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:15771105C>A	ENST00000375949.4	+	6	524	c.498C>A	c.(496-498)aaC>aaA	p.N166K	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	166	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.N166K(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGCCAACGGCCCCATTG	0.647000													8	25					3.09899e-07	5.32162e-07	0.307466	1	0
RP1L1	94137	broad.mit.edu	37	8	10470620	10470620	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:10470620G>A	ENST00000382483.3	-	4	1211	c.988C>T	c.(988-990)Cac>Tac	p.H330Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	330					intracellular signal transduction			p.H330Y(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGACCAGGTGGAAGCGGACT	0.652000													12	70					0	0	0.435327	0	0
IMPG1	3617	broad.mit.edu	37	6	76744341	76744341	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:76744341C>T	ENST00000369963.3	-	2	420	c.231G>A	c.(229-231)caG>caA	p.Q77Q	IMPG1_ENST00000369950.3_Silent_p.Q155Q			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	155					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.Q155Q(1)		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)				GGCTCACCTGCTGGAGAAGAT	0.502000													8	69					0	0	0.335167	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331428	55331428	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:55331428T>A	ENST00000391728.4	+	4	649	c.616T>A	c.(616-618)Ttg>Atg	p.L206M	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L206M|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L206M|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L111M|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L206M|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L206M	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.L206M(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCCTATCAGTTGTCAGCTCC	0.522000													11	114					0	0	0.592651	0	0
UTP15	84135	broad.mit.edu	37	5	72875739	72875739	+	Silent	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:72875739T>A	ENST00000296792.4	+	13	1632	c.1377T>A	c.(1375-1377)gtT>gtA	p.V459V	UTP15_ENST00000543251.1_Silent_p.V269V|UTP15_ENST00000508491.1_Silent_p.V440V	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	459					rRNA processing	cytoplasm|nucleolus		p.V459V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CCCCTGTAGTTGATAAAAAGT	0.328000													9	41					0	0	0.307466	0	0
GABRQ	55879	broad.mit.edu	37	X	151821409	151821409	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:151821409C>T	ENST00000370306.2	+	9	1584	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	522						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.H522Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCTTCACCATGGCGAGAA	0.527000													7	54					0	0	0.278610	0	0
GRM1	2911	broad.mit.edu	37	6	146755390	146755390	+	Missense_Mutation	SNP	C	C	A	rs145345975	byFrequency	TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:146755390C>A	ENST00000361719.2	+	9	3513	c.3043C>A	c.(3043-3045)Cct>Act	p.P1015T	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1015T|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1015	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGGCTTGCCCCCTCCTCTCCA	0.657000													4	95					0.00909568	0.0101901	0.150653	1	0
MYT1L	23040	broad.mit.edu	37	2	1891332	1891332	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:1891332G>C	ENST00000399161.2	-	17	3317	c.2570C>G	c.(2569-2571)cCc>cGc	p.P857R	MYT1L_ENST00000428368.2_Missense_Mutation_p.P855R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	857					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P857R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACCTCCCCGGGATACCGTCT	0.502000													19	68					0	0	0.575678	0	0
TMF1	7110	broad.mit.edu	37	3	69079029	69079029	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:69079029C>A	ENST00000543976.1	-	11	2786	c.2540G>T	c.(2539-2541)aGa>aTa	p.R847I	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R844I|CTD-2013N24.2_ENST00000596732.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	844					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.R844I(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTTGAAATCTACTGTTTTC	0.403000													18	122					7.81268e-19	1.75054e-18	0.520397	1	0
ZNF777	27153	broad.mit.edu	37	7	149129475	149129475	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:149129475C>A	ENST00000247930.4	-	6	2211	c.1888G>T	c.(1888-1890)Ggc>Tgc	p.G630C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	630	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G630C(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGCCACCGCCGCCGCTACCA	0.677000													11	121					3.07112e-06	4.80149e-06	0.387290	1	0
OR52A5	390054	broad.mit.edu	37	11	5153348	5153348	+	Silent	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:5153348T>A	ENST00000307388.1	-	1	524	c.525A>T	c.(523-525)acA>acT	p.T175T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T175T(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)		GAGAGATGACTGTAGTTCGAT	0.438000													6	71					0	0	0.217242	0	0
LPHN2	23266	broad.mit.edu	37	1	82456636	82456636	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:82456636C>A	ENST00000370728.1	+	25	4832	c.4187C>A	c.(4186-4188)cCc>cAc	p.P1396H	LPHN2_ENST00000370721.1_Missense_Mutation_p.P1321H|LPHN2_ENST00000335786.5_Missense_Mutation_p.P1353H|LPHN2_ENST00000370723.1_Missense_Mutation_p.P1398H|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.P1411H|LPHN2_ENST00000359929.3_Missense_Mutation_p.P1340H|LPHN2_ENST00000370727.1_Missense_Mutation_p.P1368H|LPHN2_ENST00000370717.2_Missense_Mutation_p.P1411H|LPHN2_ENST00000394879.1_Missense_Mutation_p.P1398H|LPHN2_ENST00000271029.4_Missense_Mutation_p.P1368H|LPHN2_ENST00000370730.1_Missense_Mutation_p.P1353H|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.P1340H			O95490	LPHN2_HUMAN	latrophilin 2	1396					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P1411H(1)|p.P1340H(1)		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)		GACCTCTCTCCCTCCAGGAGG	0.498000													3	47					0.00024832	0.000331357	0.150653	1	0
FCN2	2220	broad.mit.edu	37	9	137778291	137778291	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:137778291G>T	ENST00000350339.2	+	6	475	c.461G>T	c.(460-462)cGt>cTt	p.R154L	FCN2_ENST00000291744.6_Missense_Mutation_p.R192L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	192	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	p.R192L(1)		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)		AGCGAGCTCCGTGTAGACCTG	0.557000													10	77					1.58986e-06	2.58199e-06	0.361761	1	0
AFF2	2334	broad.mit.edu	37	X	148072760	148072760	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:148072760C>G	ENST00000370460.2	+	21	4313	c.3834C>G	c.(3832-3834)gaC>gaG	p.D1278E	AFF2_ENST00000342251.3_Missense_Mutation_p.D1245E|AFF2_ENST00000286437.5_Missense_Mutation_p.D919E|AFF2_ENST00000370457.5_Missense_Mutation_p.D1243E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1278					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.D1278E(2)|p.D919E(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGATCTGGACACGCTGATGG	0.488000													15	70					0	0	0.520397	0	0
WDR49	151790	broad.mit.edu	37	3	167250700	167250700	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:167250700G>T	ENST00000308378.3	-	8	1269	c.964C>A	c.(964-966)Cct>Act	p.P322T	WDR49_ENST00000453925.2_Missense_Mutation_p.P386T|WDR49_ENST00000476376.1_Missense_Mutation_p.P147T|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	322								p.P322T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGGTAATCAGGGTGAAGAACA	0.398000													8	37					1.12685e-05	1.67429e-05	0.307466	1	0
RORB	6096	broad.mit.edu	37	9	77300511	77300511	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:77300511G>T	ENST00000376896.2	+	10	1969	c.1357G>T	c.(1357-1359)Gac>Tac	p.D453Y	RORB_ENST00000396204.2_Missense_Mutation_p.D464Y	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	464	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D453Y(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTTTAATCCTGACTGTGCCAC	0.433000													5	73					0.00198382	0.00240237	0.248553	1	0
GIPC2	54810	broad.mit.edu	37	1	78511902	78511902	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:78511902C>A	ENST00000370759.3	+	1	317	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	GIPC2_ENST00000476882.1_Intron	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	42						cytoplasm		p.L42M(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CGCACGCAGGCTGGTCTTCCA	0.716000													5	7					0.00116845	0.00146143	0.217242	1	0
SPICE1	152185	broad.mit.edu	37	3	113172761	113172761	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:113172761C>A	ENST00000295872.4	-	14	1953	c.1694G>T	c.(1693-1695)cGa>cTa	p.R565L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	565					cell division|mitosis	centriole|spindle	protein binding	p.R565L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGGAGGAAGTCGTGGAGCAGG	0.348000													4	55					0.00116845	0.00146143	0.217242	1	0
CHD5	26038	broad.mit.edu	37	1	6203992	6203992	+	Splice_Site	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:6203992C>A	ENST00000262450.3	-	13	2034		c.e13-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.?(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATCAGCTCCCTGGGAAACGG	0.657000													10	78					0.000442599	0.000581345	0.335167	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55331438	55331438	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:55331438C>A	ENST00000391728.4	+	4	659	c.626C>A	c.(625-627)cCc>cAc	p.P209H	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P209H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P209H|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P114H|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P209H|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P209H	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.P209H(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTGTCAGCTCCCAGTGATCCC	0.527000													10	106					3.62473e-10	6.9668e-10	0.608945	1	0
MYH1	4619	broad.mit.edu	37	17	10411814	10411814	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:10411814G>T	ENST00000226207.5	-	16	1857	c.1763C>A	c.(1762-1764)aCc>aAc	p.T588N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	588	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.T588N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTAGTCCACGGTGCCAGCATA	0.507000													5	58					0.000602214	0.000774012	0.184627	1	0
TMEM132A	54972	broad.mit.edu	37	11	60699188	60699188	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:60699188G>T	ENST00000005286.4	+	6	1200	c.1047G>T	c.(1045-1047)tgG>tgT	p.W349C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.W348C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	348						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.W349C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGTTCCTATGGGTGGACTTTG	0.592000													7	67					0.00448238	0.00526083	0.307466	1	0
XYLT1	64131	broad.mit.edu	37	16	17202811	17202811	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:17202811C>G	ENST00000261381.6	-	12	2705	c.2621G>C	c.(2620-2622)aGc>aCc	p.S874T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	874					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.S874T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGGTTTAGGCTCTGGAAGCT	0.607000													11	54					0	0	0.435327	0	0
GRID2	2895	broad.mit.edu	37	4	94031995	94031995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:94031995C>A	ENST00000282020.4	+	4	884	c.626C>A	c.(625-627)aCc>aAc	p.T209N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T114N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	209			T -> N (in a colorectal cancer sample; somatic mutation).		glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T209N(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAAATGATTACCACTCTCTTT	0.428000													9	74					1.12685e-05	1.67429e-05	0.307466	1	0
OR14C36	127066	broad.mit.edu	37	1	248512312	248512312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:248512312C>G	ENST00000317861.1	+	1	236	c.236C>G	c.(235-237)tCa>tGa	p.S79*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S79*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTCCCTACCTCATGTGTCAAT	0.473000													8	53					0	0	0.278610	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173679007	173679007	+	Splice_Site	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:173679007G>T	ENST00000264111.6	+	4	485	c.297_splice	c.e4-1	p.D100_splice	RAPGEF4_ENST00000409036.1_Splice_Site_p.D100_splice|RAPGEF4_ENST00000397081.3_Splice_Site_p.D100_splice			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	100					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	p.D100Y(1)		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)			GGATCCTCAGGATGCTGTGAC	0.448000													9	49					0.00621372	0.00721204	0.335167	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652109	121652109	+	Silent	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:121652109T>C	ENST00000393386.2	+	12	3420	c.3009T>C	c.(3007-3009)agT>agC	p.S1003S	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1003					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S1003S(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCTGATAGTGAATTTCTTT	0.433000													11	82					0	0	0.387290	0	0
USP7	7874	broad.mit.edu	37	16	8999107	8999107	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:8999107C>A	ENST00000344836.4	-	14	1708	c.1510G>T	c.(1510-1512)Gac>Tac	p.D504Y	USP7_ENST00000535863.1_Missense_Mutation_p.D405Y|USP7_ENST00000381886.4_Missense_Mutation_p.D488Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	504					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D504N(1)|p.D504Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACAGACAGGTCGTCATCGTGA	0.423000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	63					3.59834e-05	5.09359e-05	0.217242	1	0
PCDHA13	56136	broad.mit.edu	37	5	140263288	140263288	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140263288G>A	ENST00000289272.2	+	1	1435	c.1435G>A	c.(1435-1437)Gct>Act	p.A479T	PCDHA13_ENST00000409494.1_Missense_Mutation_p.A479T|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.A479T(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTCTGCTCAGGACGC	0.667000													11	65					0	0	0.361761	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36277799	36277799	+	Splice_Site	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:36277799A>G	ENST00000314737.5	+	20	2028	c.1942_splice	c.e20-1	p.E648_splice	ARHGAP33_ENST00000378944.5_Silent_p.E673E|ARHGAP33_ENST00000007510.4_Silent_p.E809E	NM_052948.3	NP_443180.2	O14559	RHG33_HUMAN	Rho GTPase activating protein 33	648					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.E648E(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGTCCTAGAACTGCTGGGGG	0.706000													4	13					0	0	0.150653	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397198	5397198	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:5397198C>A	ENST00000341928.2	-	18	3040	c.2700G>T	c.(2698-2700)ggG>ggT	p.G900G	EPB41L3_ENST00000544123.1_Silent_p.G731G|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.G205G|EPB41L3_ENST00000427684.2_Silent_p.G197G|EPB41L3_ENST00000342933.3_Silent_p.G900G|EPB41L3_ENST00000540638.2_Silent_p.G678G|EPB41L3_ENST00000400111.3_Silent_p.G678G	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	900	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G900G(1)		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						CCTCTTTAGCCCCCTCCGTCA	0.602000													14	91					1.65356e-20	3.72496e-20	0.479597	1	0
PASK	23178	broad.mit.edu	37	2	242066664	242066664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:242066664C>A	ENST00000403638.3	-	10	1757	c.1666G>T	c.(1666-1668)Gag>Tag	p.E556*	PASK_ENST00000234040.4_Nonsense_Mutation_p.E556*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E370*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E340*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E556*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E556*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	556					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.E556*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCCATCCTCAGCTGGGACT	0.582000													7	106					0.00307968	0.00365548	0.278610	1	0
FAT1	2195	broad.mit.edu	37	4	187540319	187540319	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:187540319C>G	ENST00000441802.2	-	10	7630	c.7421G>C	c.(7420-7422)aGt>aCt	p.S2474T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2474	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S2474T(1)|p.S2477T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGGGTGGAACTTCTAAAAAC	0.468000										HNSCC(5;0.00058)			8	160					0	0	0.278610	0	0
GLYAT	10249	broad.mit.edu	37	11	58482797	58482797	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:58482797G>T	ENST00000344743.3	-	3	322	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	GLYAT_ENST00000278400.3_Missense_Mutation_p.Q61K|GLYAT_ENST00000529732.1_Missense_Mutation_p.Q61K	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	61					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.Q61K(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ACCTGCTCCTGAGGGCAGACA	0.408000													8	26					0.000157383	0.000212037	0.278610	1	0
PTX4	390667	broad.mit.edu	37	16	1537612	1537612	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:1537612C>A	ENST00000447419.2	-	2	526	c.501G>T	c.(499-501)agG>agT	p.R167S	PTX4_ENST00000293922.1_Missense_Mutation_p.R162S|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	167						extracellular region	metal ion binding	p.R162S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GAGCAGCCAGCCTGGCGCCCT	0.736000													5	19					0.014758	0.0161031	0.184627	1	0
NPSR1	387129	broad.mit.edu	37	7	34889212	34889212	+	Missense_Mutation	SNP	G	G	T	rs77260034	byFrequency	TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:34889212G>T	ENST00000360581.1	+	9	1189	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.R288L|NPSR1_ENST00000381539.3_Silent_p.P387P	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	354						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R354L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATGACGTTCCGGGAGAGAACT	0.478000													7	88					1.12685e-05	1.67429e-05	0.307466	1	0
AGRN	375790	broad.mit.edu	37	1	979211	979211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:979211G>T	ENST00000379370.2	+	10	1857	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	603					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.G603R(1)|p.G603L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGAGACCTGTGGAGATGCCGT	0.711000													6	31					3.59834e-05	5.09359e-05	0.217242	1	0
ZFP91	80829	broad.mit.edu	37	11	58384671	58384671	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:58384671G>A	ENST00000316059.6	+	11	1376	c.1205G>A	c.(1204-1206)tGt>tAt	p.C402Y	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.C402Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	402					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.C402Y(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTCCTTAGATGTGAGATCTGT	0.383000													8	56					0	0	0.307466	0	0
BCL11B	64919	broad.mit.edu	37	14	99640499	99640499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:99640499C>A	ENST00000345514.2	-	3	2727	c.2461G>T	c.(2461-2463)Gag>Tag	p.E821*	BCL11B_ENST00000443726.2_Nonsense_Mutation_p.E698*|BCL11B_ENST00000357195.3_Nonsense_Mutation_p.E892*	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	892						nucleus	zinc ion binding	p.E892K(1)|p.E892*(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TAGCTCCTCTCGGCCTGCTCG	0.607000			T	TLX3	T-ALL								12	22					1.49906e-05	2.19617e-05	0.457914	1	0
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:19184711G>T	ENST00000275461.3	-	1	333	c.275C>A	c.(274-276)cCc>cAc	p.P92H	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P92H(3)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCCTCTTGGGGCGGCCTAA	0.617000													5	32					0.184627	0.18868	0.184627	1	0
MUC2	4583	broad.mit.edu	37	11	1103270	1103270	+	Missense_Mutation	SNP	G	G	T	rs72655355		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:1103270G>T	ENST00000441003.2	+	46	8047	c.8020G>T	c.(8020-8022)Gtc>Ttc	p.V2674F		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5036						inner mucus layer|outer mucus layer	protein binding	p.V2674F(1)		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)	CATCTCGTCCGTCTCCAACAT	0.597000													6	47					0.00198382	0.00240237	0.248553	1	0
ZNF317	57693	broad.mit.edu	37	19	9271087	9271087	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:9271087G>T	ENST00000247956.6	+	7	1071	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	ZNF317_ENST00000360385.3_Missense_Mutation_p.G224W	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G256W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAGCGACTGCGGGAAAGCCTT	0.557000													12	40					7.93312e-07	1.30865e-06	0.457914	1	0
SERPINB2	5055	broad.mit.edu	37	18	61569034	61569034	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:61569034T>A	ENST00000457692.1	+	7	929	c.596T>A	c.(595-597)gTg>gAg	p.V199E	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.V199E	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	199					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.V199E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGGTCCTGGTGAATGCTGTC	0.378000													7	74					0	0	0.278610	0	0
DACT1	51339	broad.mit.edu	37	14	59112813	59112813	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:59112813G>T	ENST00000395153.3	+	4	1508	c.1361G>T	c.(1360-1362)aGc>aTc	p.S454I	DACT1_ENST00000541264.2_Missense_Mutation_p.S210I|DACT1_ENST00000335867.4_Missense_Mutation_p.S491I|DACT1_ENST00000395151.3_Missense_Mutation_p.S210I|DACT1_ENST00000556859.1_Missense_Mutation_p.S210I	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	491					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.S491I(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GAGAGTCCTAGCAGAGGCCCT	0.607000													7	70					0.00448238	0.00526083	0.307466	1	0
SPOCK1	6695	broad.mit.edu	37	5	136314510	136314510	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:136314510C>A	ENST00000394945.1	-	11	1322	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.D385Y	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	385					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.D385Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGCCAAAATCCCCTGAGGTT	0.512000													6	40					0.00116845	0.00146143	0.217242	1	0
TMEM26	219623	broad.mit.edu	37	10	63170408	63170408	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:63170408C>T	ENST00000399298.3	-	6	1147	c.779G>A	c.(778-780)aGc>aAc	p.S260N	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	260						integral to membrane		p.S260N(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TATGAAGACGCTGATTCCGAT	0.498000													3	16					0	0	0.115264	0	0
COMMD8	54951	broad.mit.edu	37	4	47455119	47455119	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:47455119T>A	ENST00000381571.4	-	4	555	c.488A>T	c.(487-489)gAg>gTg	p.E163V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	163	COMM.						protein binding	p.E163V(1)		large_intestine(2)|lung(5)|prostate(1)	8						CTGCAGCTCCTCTCTACTCAT	0.343000													5	68					0	0	0.184627	0	0
TSHR	7253	broad.mit.edu	37	14	81609541	81609541	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:81609541C>A	ENST00000541158.2	+	11	1461	c.1139C>A	c.(1138-1140)gCt>gAt	p.A380D	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.A380D			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	380					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.A380D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACTCTACAAGCTTTTGACAGC	0.458000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						15	39					1.52009e-12	3.15306e-12	0.479597	1	0
EPHA3	2042	broad.mit.edu	37	3	89462341	89462341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:89462341C>T	ENST00000336596.2	+	10	2038	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	EPHA3_ENST00000494014.1_Missense_Mutation_p.P605S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	605						extracellular region|integral to plasma membrane	ATP binding	p.P605S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATATGAAGACCCTACCCAAGC	0.423000										TSP Lung(6;0.00050)			5	93					0	0	0.248553	0	0
SYT9	143425	broad.mit.edu	37	11	7334985	7334985	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:7334985A>G	ENST00000318881.6	+	3	1094	c.857A>G	c.(856-858)gAt>gGt	p.D286G	SYT9_ENST00000396716.2_Missense_Mutation_p.D254G	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	286	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.D286G(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCTGTGTTTGATGAAGTGTTT	0.423000													22	162					0	0	0.639603	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598255	81598255	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:81598255C>A	ENST00000356860.3	-	29	2681	c.2343G>T	c.(2341-2343)atG>atT	p.M781I	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.M793I	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	793						voltage-gated calcium channel complex	metal ion binding	p.M781N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTTGCTTACCATAATGCCCG	0.274000													10	97					3.86212e-05	5.37617e-05	0.361761	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76495885	76495885	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:76495885G>T	ENST00000307431.8	+	10	1748	c.1363G>T	c.(1363-1365)Gtc>Ttc	p.V455F	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V383F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V407F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V459F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V431F(1)|p.V383F(1)|p.V455F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGGCATTCTGTCTCTTTATC	0.473000													14	52					3.41278e-10	6.58966e-10	0.520397	1	0
INHBA	3624	broad.mit.edu	37	7	41729415	41729415	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:41729415C>A	ENST00000242208.4	-	3	1360	c.1114G>T	c.(1114-1116)Gtc>Ttc	p.V372F	INHBA_ENST00000442711.1_Missense_Mutation_p.V372F|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	372					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V372F(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGTTGATGACTGTTGAGTGG	0.557000										TSP Lung(11;0.080)			12	50					2.27111e-07	3.93221e-07	0.411799	1	0
ZNF98	148198	broad.mit.edu	37	19	22605024	22605024	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:22605024C>A	ENST00000357774.5	-	1	124	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF98_ENST00000601553.1_Start_Codon_SNP_p.M1I	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M1I(2)		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)				GGGGTCCTGGCATCTTAGCTG	0.592000													12	65					1.41608e-15	3.09029e-15	0.435327	1	0
DDX60L	91351	broad.mit.edu	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:169374381C>A	ENST00000511577.1	-	8	1137	c.890G>T	c.(889-891)cGt>cTt	p.R297L	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297L|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding|ATP-dependent helicase activity|RNA binding	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458000													4	34					0.00909568	0.0101901	0.150653	1	0
MNX1	3110	broad.mit.edu	37	7	156802971	156802971	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:156802971C>T	ENST00000252971.6	-	1	374	c.74G>A	c.(73-75)aGc>aAc	p.S25N		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	25				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S25N(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCGGCGCGCTCTGCGCAGA	0.726000													3	5					0	0	0.115264	0	0
TENM1	10178	broad.mit.edu	37	X	123805544	123805544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:123805544G>T	ENST00000422452.2	-	6	1220	c.1157C>A	c.(1156-1158)tCa>tAa	p.S386*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.S386*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.S388*(1)									TTTTTTCTCTGATTTATCAGA	0.388000													8	57					0.000157383	0.000212037	0.278610	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606237	84606237	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:84606237G>T	ENST00000344803.2	+	4	899	c.852G>T	c.(850-852)caG>caT	p.Q284H		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.Q284H(2)									ATATTTCGCAGGCCATGAATC	0.478000													22	275					2.89027e-11	5.82222e-11	0.624587	1	0
FAM213A	84293	broad.mit.edu	37	10	82187222	82187222	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:82187222G>A	ENST00000372181.1	+	4	1016	c.546G>A	c.(544-546)ggG>ggA	p.G182G	FAM213A_ENST00000372188.1_Silent_p.G182G|FAM213A_ENST00000372185.1_Silent_p.G171G|FAM213A_ENST00000372187.5_Silent_p.G182G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	182						extracellular region		p.G182G(1)									TCATCCTTGGGGGAGTTTTCG	0.507000													3	52					0	0	0.115264	0	0
TRPC5	7224	broad.mit.edu	37	X	111195540	111195540	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:111195540G>C	ENST00000262839.2	-	2	1027	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	37					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L37V(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACAGCATTGAGGAAGGCCTTC	0.517000													8	57					0	0	0.278610	0	0
CD244	51744	broad.mit.edu	37	1	160811258	160811258	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:160811258G>T	ENST00000368034.4	-	3	574	c.397C>A	c.(397-399)Cgc>Agc	p.R133S	CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Missense_Mutation_p.R133S|CD244_ENST00000368033.3_Missense_Mutation_p.R138S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	138	Ig-like 2.			ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.R138S(1)|p.R133S(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCTGTAGGCGGGGTTTCTCA	0.498000													5	48					0.014758	0.0161031	0.184627	1	0
PITPNM2	57605	broad.mit.edu	37	12	123489893	123489893	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:123489893C>T	ENST00000280562.5	-	6	1051	c.846G>A	c.(844-846)ggG>ggA	p.G282G	PITPNM2_ENST00000320201.4_Silent_p.G282G|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.G282G|PITPNM2_ENST00000542749.1_Silent_p.G282G|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	282					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.G282G(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGGGGGCTCCCCAGAGGTCT	0.622000													9	61					0	0	0.361761	0	0
KCNK12	56660	broad.mit.edu	37	2	47748864	47748864	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:47748864G>A	ENST00000327876.3	-	2	1082	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	159						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.0?(2)|p.?(2)|p.L159L(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGAAGAACAGGATGGTCCCA	0.682000													5	14					0	0	0.217242	0	0
OR2G2	81470	broad.mit.edu	37	1	247751824	247751824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:247751824G>T	ENST00000320065.1	+	1	163	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E55*(1)		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)			TTCTCGTCTGGAACCCAAGCT	0.423000													32	128					2.20474e-14	4.71319e-14	0.788014	1	0
DST	667	broad.mit.edu	37	6	56417869	56417869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:56417869C>A	ENST00000370754.5	-	61	15627	c.15628G>T	c.(15628-15630)Gaa>Taa	p.E5210*	DST_ENST00000370788.2_Nonsense_Mutation_p.E2944*|DST_ENST00000446842.2_Nonsense_Mutation_p.E4706*|DST_ENST00000370769.4_Nonsense_Mutation_p.E5032*|DST_ENST00000361203.3_Nonsense_Mutation_p.E5030*|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.E2618*|DST_ENST00000421834.2_Nonsense_Mutation_p.E2944*			Q03001	DYST_HUMAN	dystonin	5030					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E2618*(1)|p.E5032*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTAACAACTTCTTTATCTATC	0.403000													16	106					1.52009e-12	3.15306e-12	0.479597	1	0
PRR4	11272	broad.mit.edu	37	12	10999703	10999703	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:10999703C>A	ENST00000228811.4	-	3	401	c.364G>T	c.(364-366)Gac>Tac	p.D122Y	PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Silent_p.G44G|PRR4_ENST00000540107.1_Missense_Mutation_p.G64V	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	122					visual perception	extracellular space		p.D122Y(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GCTGGTCTGTCCCTCTGGAAG	0.498000													14	87					4.36969e-10	8.28462e-10	0.435327	1	0
TPI1	7167	broad.mit.edu	37	12	6979504	6979504	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:6979504C>A	ENST00000229270.4	+	7	1155	c.818C>A	c.(817-819)tCc>tAc	p.S273Y	TPI1_ENST00000535434.1_Missense_Mutation_p.S154Y|TPI1_ENST00000488464.2_Missense_Mutation_p.S154Y|TPI1_ENST00000396705.5_Missense_Mutation_p.S236Y	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	236					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	p.S236N(1)|p.S273N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGTGGTGCTTCCCTCAAGCCC	0.582000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					1.76689e-08	3.20488e-08	0.335167	1	0
NF1	4763	broad.mit.edu	37	17	29665721	29665721	+	Splice_Site	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:29665721G>C	ENST00000358273.4	+	46	7202		c.e46-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000444181.2_Splice_Site|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTCCTAAAAGGCACTTGAGA	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	72					0	0	0.539581	0	0
TRIM72	493829	broad.mit.edu	37	16	31230609	31230609	+	Splice_Site	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:31230609G>T	ENST00000322122.3	+	4	770		c.e4-1			NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72						exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	p.?(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CATCCCTGCAGGAGACAGTGC	0.647000													4	45					0.000602214	0.000774012	0.184627	1	0
ZNF419	79744	broad.mit.edu	37	19	58002838	58002838	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:58002838G>T	ENST00000424930.2	+	3	304	c.75G>T	c.(73-75)caG>caT	p.Q25H	ZNF419_ENST00000221735.7_Splice_Site|ZNF419_ENST00000347466.6_Missense_Mutation_p.Q25H|ZNF419_ENST00000520540.1_Missense_Mutation_p.Q12H|ZNF419_ENST00000426954.2_Missense_Mutation_p.Q12H|ZNF419_ENST00000442920.2_Splice_Site|AC003005.4_ENST00000601674.1_Splice_Site|ZNF419_ENST00000354197.4_Missense_Mutation_p.Q12H|ZNF419_ENST00000518999.1_Missense_Mutation_p.Q25H|ZNF419_ENST00000415379.2_Splice_Site	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q25H(1)|p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CATCTTAGCAGGGCTATGTGA	0.507000													13	55					2.27111e-07	3.93221e-07	0.411799	1	0
SPACA1	81833	broad.mit.edu	37	6	88773893	88773893	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:88773893C>T	ENST00000237201.1	+	6	804	c.687C>T	c.(685-687)atC>atT	p.I229I	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	229						integral to membrane		p.I229I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		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;0.11)		GAGTCATTATCTGTGTATTTA	0.383000													13	85					0	0	0.500413	0	0
RNF144B	255488	broad.mit.edu	37	6	18457534	18457534	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:18457534G>T	ENST00000259939.3	+	5	797	c.480G>T	c.(478-480)tgG>tgT	p.W160C	RNF144B_ENST00000429054.2_Missense_Mutation_p.W71C	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	160					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.W160C(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGATGCTTGGCATGCAGAGG	0.507000													18	235					6.49762e-13	1.36125e-12	0.539581	1	0
CRYGC	1420	broad.mit.edu	37	2	208994227	208994227	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:208994227G>T	ENST00000282141.3	-	2	227	c.190C>A	c.(190-192)Ccc>Acc	p.P64T		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	64	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	p.P64T(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGTAGTCGGGGTACTCCCCT	0.582000													14	62					3.52763e-06	5.49471e-06	0.520397	1	0
OR5R1	219479	broad.mit.edu	37	11	56185351	56185351	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:56185351A>T	ENST00000312253.1	-	1	357	c.358T>A	c.(358-360)Tac>Aac	p.Y120N		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y120N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGCAATCGTAGGCCATGGAG	0.458000													6	43					0	0	0.307466	0	0
CCNT2	905	broad.mit.edu	37	2	135711220	135711220	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:135711220A>G	ENST00000264157.5	+	9	1225	c.1195A>G	c.(1195-1197)Aaa>Gaa	p.K399E	CCNT2_ENST00000295238.6_Missense_Mutation_p.K399E|CCNT2_ENST00000537343.1_Missense_Mutation_p.K224E	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	399					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	p.K399E(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CAGACCTGACAAAATTTCAGA	0.413000													13	48					0	0	0.411799	0	0
KLHL6	89857	broad.mit.edu	37	3	183226293	183226293	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:183226293G>T	ENST00000341319.3	-	3	498	c.463C>A	c.(463-465)Ctg>Atg	p.L155M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	155								p.L155M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACCATCCGCAGGAACTGATGA	0.483000													5	29					0.0215528	0.0232149	0.217242	1	0
FZD7	8324	broad.mit.edu	37	2	202901043	202901043	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:202901043G>T	ENST00000286201.1	+	1	1734	c.1673G>T	c.(1672-1674)cGc>cTc	p.R558L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	558					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R558L(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CAGTCGTGGCGCCGCTTCTAC	0.607000													13	38					4.3838e-07	7.43649e-07	0.435327	1	0
OC90	729330	broad.mit.edu	37	8	133036951	133036951	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:133036951G>T	ENST00000262283.5	-	18	1946	c.1847C>A	c.(1846-1848)gCc>gAc	p.A616D	OC90_ENST00000603859.1_Missense_Mutation_p.A404D|OC90_ENST00000443356.2_Missense_Mutation_p.A420D|OC90_ENST00000254627.3_Missense_Mutation_p.A404D			Q02509	OC90_HUMAN	otoconin 90	420					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.A378D(1)|p.A616D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTTAAAGGAGGCAGAGGTCAT	0.607000													4	19					0.000602214	0.000774012	0.184627	1	0
OR4K1	79544	broad.mit.edu	37	14	20404246	20404246	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:20404246T>G	ENST00000285600.4	+	1	480	c.421T>G	c.(421-423)Tgt>Ggt	p.C141G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCGGAGGCTCTGTGTAATTTT	0.458000													13	127					0	0	0.411799	0	0
CHERP	10523	broad.mit.edu	37	19	16641682	16641682	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:16641682C>A	ENST00000546361.2	-	6	835	c.684G>T	c.(682-684)aaG>aaT	p.K228N	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.K239N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	228	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.K228N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCCGGGCCTGCTTGCGCTGGC	0.692000													5	22					0.00307968	0.00365548	0.278610	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518674	113518674	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:113518674T>C	ENST00000284601.3	-	4	2541	c.2473A>G	c.(2473-2475)Atg>Gtg	p.M825V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	825					glycogen metabolic process	integral to membrane		p.M825V(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGATTGTACATAGACATGGTT	0.368000													15	89					0	0	0.457914	0	0
ZIC4	84107	broad.mit.edu	37	3	147108804	147108804	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:147108804G>T	ENST00000383075.3	-	4	1430	c.918C>A	c.(916-918)ctC>ctA	p.L306L	ZIC4_ENST00000484399.1_Silent_p.L306L|ZIC4_ENST00000473123.1_Silent_p.L306L|ZIC4_ENST00000425731.3_Silent_p.L344L|ZIC4_ENST00000525172.2_Silent_p.L356L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Silent_p.L100L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	306						nucleus	DNA binding|zinc ion binding	p.L306L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGGGCGACACGAGGGCAGACG	0.682000													9	35					2.17888e-05	3.16996e-05	0.335167	1	0
GALNT2	2590	broad.mit.edu	37	1	230379104	230379104	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:230379104G>T	ENST00000366672.4	+	7	732	c.660G>T	c.(658-660)ctG>ctT	p.L220L	GALNT2_ENST00000543760.1_Silent_p.L182L|GALNT2_ENST00000541865.1_Silent_p.L130L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	220	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L220L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCAAGGTCCTGACCTTCCTGG	0.642000													9	53					0.00829132	0.00954413	0.361761	1	0
ROBO2	6092	broad.mit.edu	37	3	77147386	77147386	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:77147386A>T	ENST00000461745.1	+	2	1183	c.283A>T	c.(283-285)Atc>Ttc	p.I95F	ROBO2_ENST00000332191.8_Missense_Mutation_p.I95F|ROBO2_ENST00000487694.3_Missense_Mutation_p.I111F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	95	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.I111F(1)|p.I95F(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTTCTTGCGCATCGTGCACGG	0.532000													7	36					0	0	0.248553	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178097	44178097	+	Silent	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr22:44178097T>A	ENST00000262726.7	-	3	355	c.102A>T	c.(100-102)tcA>tcT	p.S34S	EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.S34S(1)		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)				AACCATTCCTTGAATATACTC	0.363000													19	73					0	0	0.557998	0	0
TPI1	7167	broad.mit.edu	37	12	6979503	6979503	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:6979503T>A	ENST00000229270.4	+	7	1154	c.817T>A	c.(817-819)Tcc>Acc	p.S273T	TPI1_ENST00000535434.1_Missense_Mutation_p.S154T|TPI1_ENST00000488464.2_Missense_Mutation_p.S154T|TPI1_ENST00000396705.5_Missense_Mutation_p.S236T	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	236					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	p.S236N(1)|p.S273N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGTGGTGCTTCCCTCAAGCC	0.577000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	23					0	0	0.335167	0	0
LPPR4	9890	broad.mit.edu	37	1	99771695	99771695	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:99771695C>A	ENST00000370185.3	+	7	1918	c.1421C>A	c.(1420-1422)cCc>cAc	p.P474H	LPPR4_ENST00000457765.1_Missense_Mutation_p.P416H|LPPR4_ENST00000370184.1_Missense_Mutation_p.P316H	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		474							phosphatidate phosphatase activity	p.P474H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAGTCACCACCCAGATCCATA	0.517000													9	97					0.0477658	0.0507966	0.307466	1	0
AHNAK	79026	broad.mit.edu	37	11	62301093	62301093	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:62301093C>G	ENST00000378024.4	-	5	1070	c.796G>C	c.(796-798)Gac>Cac	p.D266H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	266					nervous system development	nucleus	protein binding	p.D266H(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACCCAAGTCCAAGCCCTTT	0.572000													6	67					0	0	0.217242	0	0
SYNJ2	8871	broad.mit.edu	37	6	158492670	158492670	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:158492670G>A	ENST00000355585.4	+	15	2052	c.1977G>A	c.(1975-1977)ggG>ggA	p.G659G	SYNJ2_ENST00000367121.3_Silent_p.G659G|SYNJ2_ENST00000367122.2_Silent_p.G659G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	659							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.G659G(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCATGGGGGGCAAGGCGG	0.617000													4	40					0	0	0.150653	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591732	125591732	+	Silent	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:125591732C>G	ENST00000504087.1	-	4	3737	c.2700G>C	c.(2698-2700)ctG>ctC	p.L900L	ANKRD50_ENST00000515641.1_Silent_p.L721L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	900								p.L900L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTTGTTTTCCAGTAATATTT	0.378000													5	76					0	0	0.184627	0	0
ROBO2	6092	broad.mit.edu	37	3	77607136	77607136	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:77607136G>T	ENST00000461745.1	+	9	2173	c.1273G>T	c.(1273-1275)Gcc>Tcc	p.A425S	ROBO2_ENST00000332191.8_Missense_Mutation_p.A425S|ROBO2_ENST00000487694.3_Missense_Mutation_p.A441S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	425	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.A425S(1)|p.A441S(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAAGGCCCAGCCAACCAAAC	0.408000													9	53					0.307466	0.311933	0.307466	1	0
PLCB1	23236	broad.mit.edu	37	20	8717677	8717677	+	Silent	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:8717677T>A	ENST00000378641.3	+	20	2521	c.2046T>A	c.(2044-2046)atT>atA	p.I682I	PLCB1_ENST00000378637.2_Silent_p.I682I|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.I682I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	682	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.I682I(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTTCTAGATTATTTCAGGTC	0.343000													16	58					0	0	0.575678	0	0
CES5A	221223	broad.mit.edu	37	16	55897269	55897269	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:55897269C>A	ENST00000521992.1	-	7	1033	c.888G>T	c.(886-888)aaG>aaT	p.K296N	CES5A_ENST00000290567.9_Missense_Mutation_p.K267N|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.K161N|CES5A_ENST00000319165.9_Missense_Mutation_p.K267N|CES5A_ENST00000520435.1_Missense_Mutation_p.K237N	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	267						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.K267N(1)|p.K296N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGTCCTCACTCTTCTCATAAT	0.502000													10	53					5.16669e-11	1.02599e-10	0.387290	1	0
ZNF711	7552	broad.mit.edu	37	X	84520224	84520224	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:84520224G>T	ENST00000360700.4	+	6	1765	c.879G>T	c.(877-879)atG>atT	p.M293I	ZNF711_ENST00000542798.1_Missense_Mutation_p.M89I|ZNF711_ENST00000395402.1_Missense_Mutation_p.M271I|ZNF711_ENST00000373165.3_Missense_Mutation_p.M293I|ZNF711_ENST00000276123.3_Missense_Mutation_p.M293I			Q9Y462	ZN711_HUMAN	zinc finger protein 711	293					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.M273I(1)|p.M293I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGTTTACATGGCAGTTAAAG	0.408000													4	48					0.00909568	0.0101901	0.150653	1	0
MUSK	4593	broad.mit.edu	37	9	113562896	113562896	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:113562896C>T	ENST00000416899.2	+	13	2340	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	MUSK_ENST00000189978.5_Silent_p.L746L|MUSK_ENST00000374448.4_Silent_p.L746L			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	746	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L746L(1)		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						ACTTTGGCCTCTCCAGGAACA	0.478000													16	152					0	0	0.520397	0	0
PRUNE	58497	broad.mit.edu	37	1	151006549	151006549	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:151006549G>T	ENST00000271620.3	+	8	1357	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	PRUNE_ENST00000271619.8_Missense_Mutation_p.D189Y|PRUNE_ENST00000368934.1_Missense_Mutation_p.D166Y|PRUNE_ENST00000368936.1_Missense_Mutation_p.D219Y|PRUNE_ENST00000368935.1_Missense_Mutation_p.D116Y|PRUNE_ENST00000368937.1_Missense_Mutation_p.D166Y	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	401	Essential for homodimerization.					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	p.D401Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGAGTCAAGATGAGGAGGA	0.572000													8	75					0.00448238	0.00526083	0.307466	1	0
TTN	7273	broad.mit.edu	37	2	179438859	179438859	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:179438859G>C	ENST00000589042.1	-	326	72224	c.72000C>G	c.(71998-72000)atC>atG	p.I24000M	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I14935M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I21432M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I22359M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15127M|TTN_ENST00000359218.5_Missense_Mutation_p.I15060M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22359	Fibronectin type-III 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I15060M(1)|p.I15127M(1)|p.I21432M(1)|p.I21430M(1)|p.I14935M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTTGGCGATCACACGGA	0.463000													7	46					0	0	0.248553	0	0
COL4A2	1284	broad.mit.edu	37	13	111138029	111138029	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:111138029G>T	ENST00000360467.5	+	34	3359	c.3053G>T	c.(3052-3054)gGg>gTg	p.G1018V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1018	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1018V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCATCCCAGGGCTGTCAGGA	0.602000													11	70					1.05317e-09	1.98774e-09	0.457914	1	0
PABPC5	140886	broad.mit.edu	37	X	90690776	90690776	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:90690776G>T	ENST00000312600.3	+	2	414	c.200G>T	c.(199-201)cGc>cTc	p.R67L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	67	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.R67L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GTTAACTTCCGCTTTCCCGCG	0.527000													5	31					0.0215528	0.0232149	0.217242	1	0
MC5R	4161	broad.mit.edu	37	18	13825905	13825905	+	Silent	SNP	T	T	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:13825905T>G	ENST00000324750.3	+	1	363	c.141T>G	c.(139-141)ggT>ggG	p.G47G		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	47					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.G47G(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCACTCTGGGTGTCATCAGCC	0.502000													4	50					0	0	0.150653	0	0
ZNF728	388523	broad.mit.edu	37	19	23159763	23159763	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:23159763G>C	ENST00000594710.1	-	4	521	c.376C>G	c.(376-378)Cac>Gac	p.H126D		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CCTTTTTTGTGCACCTTACAC	0.308000													4	51					0	0	0.150653	0	0
ITGA4	3676	broad.mit.edu	37	2	182363443	182363443	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:182363443C>A	ENST00000397033.2	+	15	2064	c.1634C>A	c.(1633-1635)aCa>aAa	p.T545K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	545					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.T545K(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GACGTGATTACAGGAAGCATA	0.363000													14	40					6.31663e-08	1.11204e-07	0.479597	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488795	84488795	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:84488795G>T	ENST00000286744.5	+	6	820	c.596G>T	c.(595-597)tGt>tTt	p.C199F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.C199F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	199						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C199F(1)		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)			AGTGGCATCTGTCAGGTAAGC	0.488000													3	30					2.56e-06	4.0477e-06	0.150653	1	0
ZNF695	57116	broad.mit.edu	37	1	247162722	247162722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:247162722C>A	ENST00000339986.7	-	3	334	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	ZNF695_ENST00000487338.2_Nonsense_Mutation_p.E63*|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	63	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E63*(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-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)			ATGATCAGTTCTGGCTTAGAC	0.438000													4	37					0.000602214	0.000774012	0.184627	1	0
NAV3	89795	broad.mit.edu	37	12	78513538	78513538	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:78513538C>A	ENST00000397909.2	+	15	3735	c.3562C>A	c.(3562-3564)Cgc>Agc	p.R1188S	NAV3_ENST00000536525.2_Missense_Mutation_p.R1188S|NAV3_ENST00000228327.6_Missense_Mutation_p.R1188S|NAV3_ENST00000266692.7_Missense_Mutation_p.R1188S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1188	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1188S(1)		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						TGGGTCAGGGCGCTCGAGTCC	0.493000										HNSCC(70;0.22)			15	50					0.000422831	0.000557127	0.500413	1	0
C6orf120	387263	broad.mit.edu	37	6	170102858	170102858	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:170102858G>A	ENST00000332290.2	+	1	602	c.303G>A	c.(301-303)ccG>ccA	p.P101P	C6orf120_ENST00000439249.1_Silent_p.P120P	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	101						extracellular region		p.P101P(1)		endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCTGCGGCCCGGACGCCGTGT	0.657000													8	31					0	0	0.278610	0	0
MACF1	23499	broad.mit.edu	37	1	39549929	39549929	+	Silent	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:39549929A>T	ENST00000567887.1	+	1	196	c.39A>T	c.(37-39)tcA>tcT	p.S13S	MACF1_ENST00000539005.1_Silent_p.S13S|MACF1_ENST00000317713.7_Silent_p.S13S|MACF1_ENST00000484793.1_Silent_p.S13S|MACF1_ENST00000372915.3_Silent_p.S13S|MACF1_ENST00000545844.1_Silent_p.S13S|MACF1_ENST00000602421.1_Silent_p.S13S|MACF1_ENST00000361689.2_Silent_p.S13S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	13	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S13S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGAGCGGTCATGTCGGAGTG	0.637000													4	30					0	0	0.150653	0	0
ENPP2	5168	broad.mit.edu	37	8	120596284	120596284	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:120596284G>A	ENST00000427067.2	-	16	1541	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L	ENPP2_ENST00000075322.6_Missense_Mutation_p.P458L|ENPP2_ENST00000522167.1_Missense_Mutation_p.P97L|ENPP2_ENST00000259486.6_Missense_Mutation_p.P510L|ENPP2_ENST00000522826.1_Missense_Mutation_p.P458L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	458					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.P458L(1)|p.P510L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACATCCAAAGGTTTCCTAAA	0.348000													9	88					0	0	0.335167	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195935336	195935336	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:195935336C>A	ENST00000296326.3	-	4	583	c.504G>T	c.(502-504)tcG>tcT	p.S168S	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	168						integral to membrane	acyltransferase activity|zinc ion binding	p.S168S(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GCATGGCGCCCGAGTAGAGGC	0.597000													4	36					0.00909568	0.0101901	0.150653	1	0
SLIT2	9353	broad.mit.edu	37	4	20487873	20487873	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:20487873A>T	ENST00000504154.1	+	7	842	c.590A>T	c.(589-591)cAt>cTt	p.H197L	SLIT2_ENST00000503823.1_Missense_Mutation_p.H197L|SLIT2_ENST00000503837.1_Missense_Mutation_p.H197L|SLIT2_ENST00000273739.5_Missense_Mutation_p.H197L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	197					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.H197L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTTTCAACCATATGCCTAAA	0.299000													3	36					0	0	0.184627	0	0
IL21	59067	broad.mit.edu	37	4	123542067	123542067	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:123542067G>T	ENST00000264497.3	-	1	157	c.100C>A	c.(100-102)Cgc>Agc	p.R34S	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	p.R34C(1)|p.R34S(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATCATGTGGCGATCTTGACCT	0.398000													7	82					2.0095e-06	3.22598e-06	0.248553	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48917698	48917698	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:48917698C>A	ENST00000311378.4	+	2	1577	c.1049C>A	c.(1048-1050)gCc>gAc	p.A350D	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.A257D	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	350	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.A350D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GATGCCCAGGCCAACAACTGC	0.637000													3	48					0.150653	0.154715	0.150653	1	0
SMARCA2	6595	broad.mit.edu	37	9	2104102	2104102	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:2104102G>C	ENST00000382203.1	+	23	3434	c.3225G>C	c.(3223-3225)atG>atC	p.M1075I	SMARCA2_ENST00000357248.2_Missense_Mutation_p.M1075I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M1075I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M1075I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1075	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.M1071I(1)|p.M1075I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTGCCAGATGACATCTCTCA	0.473000													15	75					0	0	0.520397	0	0
ABCC4	10257	broad.mit.edu	37	13	95840797	95840797	+	Splice_Site	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:95840797C>A	ENST00000376887.4	-	10	1378		c.e10-1		ABCC4_ENST00000412704.1_Splice_Site|ABCC4_ENST00000431522.1_Splice_Site|ABCC4_ENST00000536256.1_Splice_Site|ABCC4_ENST00000538287.1_Splice_Site	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.?(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCTCTGATGCCTACAAATTAA	0.413000													17	36					4.14922e-12	8.52217e-12	0.500413	1	0
PKHD1	5314	broad.mit.edu	37	6	51889434	51889434	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:51889434C>A	ENST00000371117.3	-	32	5449	c.5174G>T	c.(5173-5175)tGg>tTg	p.W1725L	PKHD1_ENST00000340994.4_Missense_Mutation_p.W1725L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1725	IPT/TIG 12; atypical.				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	p.W1725L(2)		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)					AGATGAGGCCCACCCTCTGAT	0.517000													9	50					7.48243e-07	1.2441e-06	0.335167	1	0
PKP2	5318	broad.mit.edu	37	12	32975519	32975519	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:32975519A>C	ENST00000340811.4	-	8	1829	c.1721T>G	c.(1720-1722)cTg>cGg	p.L574R	PKP2_ENST00000070846.6_Missense_Mutation_p.L618R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	618					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.L618R(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCTGCCTCCAGCTGGTAGGA	0.413000													10	38					0	0	0.387290	0	0
GJA9	81025	broad.mit.edu	37	1	39341324	39341324	+	Silent	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:39341324G>C	ENST00000454994.2	-	2	723	c.447C>G	c.(445-447)ctC>ctG	p.L149L	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Silent_p.L149L|GJA9_ENST00000357771.3_Silent_p.L149L			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	149					cell communication	connexon complex|integral to membrane		p.L149L(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGTTCCTCTGAGTGGAGCTT	0.423000													12	100					0	0	0.411799	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488815	20488815	+	RNA	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:20488815C>A	ENST00000555186.1	+	0	298					NR_038836.1																						ATGTGGAACCCCCACCTGCTT	0.428000													4	91					0.000602214	0.000774012	0.184627	1	0
OSR2	116039	broad.mit.edu	37	8	99961618	99961618	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:99961618C>T	ENST00000297565.4	+	2	934	c.438C>T	c.(436-438)ccC>ccT	p.P146P	OSR2_ENST00000523368.1_Silent_p.P146P|OSR2_ENST00000522510.1_Silent_p.P146P|OSR2_ENST00000457907.2_Silent_p.P267P|OSR2_ENST00000435298.2_Silent_p.P146P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	146					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.P146P(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TGGGTAGCCCCATCTCGGGCC	0.552000													21	100					0	0	0.608945	0	0
RFX6	222546	broad.mit.edu	37	6	117248319	117248319	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:117248319T>A	ENST00000332958.2	+	17	2031	c.2015T>A	c.(2014-2016)cTg>cAg	p.L672Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	672					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.L672Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGCCCAGTACTGTCAGCTCCA	0.527000													15	85					0	0	0.539581	0	0
DES	1674	broad.mit.edu	37	2	220284872	220284872	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:220284872C>A	ENST00000373960.3	+	2	720	c.634C>A	c.(634-636)Cga>Aga	p.R212R		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	212	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.R212R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGCTGCCTTCCGAGCGGTGAG	0.577000													7	52					0.00198382	0.00240237	0.248553	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281393	49281393	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:49281393T>A	ENST00000282018.3	+	1	443	c.440T>A	c.(439-441)cTg>cAg	p.L147Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	147					immune response	integral to membrane|plasma membrane		p.L147Q(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTTCGGCTTCTGCATGTCACC	0.483000													15	102					0	0	0.457914	0	0
OR2T8	343172	broad.mit.edu	37	1	248084472	248084472	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:248084472C>A	ENST00000319968.4	+	1	153	c.153C>A	c.(151-153)caC>caA	p.H51Q		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H51Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTGGGACCACCGGCTCCACA	0.527000													4	61					0.00829132	0.00954413	0.361761	1	0
CTAG2	30848	broad.mit.edu	37	X	153880825	153880825	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:153880825G>A	ENST00000247306.4	-	2	413	c.350C>T	c.(349-351)cCc>cTc	p.P117L	CTAG2_ENST00000369585.3_Missense_Mutation_p.P117L	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	117						centrosome		p.P117L(3)|p.P117H(2)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTGGTCGGGGGAGAGGTGC	0.632000													4	68					0	0	0.150653	0	0
OR5D14	219436	broad.mit.edu	37	11	55563167	55563167	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:55563167G>A	ENST00000335605.1	+	1	136	c.136G>A	c.(136-138)Ggg>Agg	p.G46R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G46R(1)|p.G46W(1)		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)				AGGAAACCTTGGGATGATCAT	0.378000													4	88					0	0	0.150653	0	0
FYB	2533	broad.mit.edu	37	5	39153583	39153583	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:39153583G>A	ENST00000351578.6	-	3	1449	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	FYB_ENST00000515010.1_Missense_Mutation_p.P420L|FYB_ENST00000512982.1_Missense_Mutation_p.P420L|FYB_ENST00000540520.1_Missense_Mutation_p.P430L|FYB_ENST00000505428.1_Missense_Mutation_p.P420L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	420	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P420L(3)|p.P430L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTTTCTGGGAGGTAGGCTTGG	0.488000													9	177					0	0	0.387290	0	0
GLI3	2737	broad.mit.edu	37	7	42006218	42006218	+	Missense_Mutation	SNP	C	C	A	rs77498774		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:42006218C>A	ENST00000395925.3	-	15	2537	c.2453G>T	c.(2452-2454)tGc>tTc	p.C818F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	818					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C818F(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACCCAAGCTGCAGGTGTTGTT	0.572000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				13	72					9.16793e-09	1.67745e-08	0.520397	1	0
THSD7A	221981	broad.mit.edu	37	7	11581224	11581224	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:11581224C>A	ENST00000423059.3	-	6	1895	c.1644G>T	c.(1642-1644)gaG>gaT	p.E548D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	548	TSP type-1 5.					integral to membrane		p.E548D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCCAGTGGGCTCATTGGTAA	0.468000										HNSCC(18;0.044)			6	30					0.00198382	0.00240237	0.248553	1	0
NOS2	4843	broad.mit.edu	37	17	26109133	26109133	+	Splice_Site	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:26109133C>A	ENST00000313735.6	-	7	864		c.e7-1			NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible						arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CATCGAAGACCTGCAACAGCC	0.532000													4	13					0.150653	0.154715	0.150653	1	0
LAMB4	22798	broad.mit.edu	37	7	107708479	107708479	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:107708479C>A	ENST00000388781.3	-	19	2511	c.2428G>T	c.(2428-2430)Ggg>Tgg	p.G810W	LAMB4_ENST00000388780.3_Missense_Mutation_p.G810W|LAMB4_ENST00000205386.4_Missense_Mutation_p.G810W	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	810	Laminin EGF-like 6.				cell adhesion	basement membrane		p.G810W(1)		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						CCGTGATGCCCCAAATCATAG	0.542000													9	152					5.4927e-09	1.01834e-08	0.307466	1	0
ZDHHC11	79844	broad.mit.edu	37	5	840585	840585	+	Missense_Mutation	SNP	C	C	T	rs138234809	by1000genomes	TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:840585C>T	ENST00000511539.1	-	2	274	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000503758.2_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TTGGGGGGATCGGGGGCTTAG	0.597000													12	70					0	0	0.575678	0	0
KMT2A	4297	broad.mit.edu	37	11	118374343	118374343	+	Missense_Mutation	SNP	A	A	G	rs147223140		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:118374343A>G	ENST00000534358.1	+	27	7759	c.7736A>G	c.(7735-7737)aAt>aGt	p.N2579S	KMT2A_ENST00000389506.5_Missense_Mutation_p.N2576S|KMT2A_ENST00000354520.4_Missense_Mutation_p.N2538S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.N2576S(1)|p.N2579S(1)									CCAAGCCCCAATAATACCTCA	0.473000													5	41					0	0	0.217242	0	0
TESK2	10420	broad.mit.edu	37	1	45810546	45810546	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:45810546A>C	ENST00000372086.3	-	11	2082	c.1682T>G	c.(1681-1683)aTa>aGa	p.I561R	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.I532R|TESK2_ENST00000341771.6_Missense_Mutation_p.I532R|TESK2_ENST00000538496.1_Missense_Mutation_p.I478R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	561					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I545R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TTGCAGGCCTATGCCTGAGGT	0.602000													5	50					0	0	0.248553	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291699	141291699	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:141291699C>A	ENST00000247452.3	-	3	422	c.75G>T	c.(73-75)tgG>tgT	p.W25C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	25						cytoplasm|nucleus		p.W25C(2)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCATCTACCCAGTCTTCTA	0.527000										HNSCC(46;0.14)			14	97					4.36969e-10	8.28462e-10	0.435327	1	0
WBSCR17	64409	broad.mit.edu	37	7	70800554	70800554	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:70800554G>T	ENST00000333538.5	+	2	891	c.257G>T	c.(256-258)gGg>gTg	p.G86V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	86						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G86V(1)		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)				AAATCCCTTGGGCTCATTGAA	0.478000													7	42					5.18039e-06	7.95086e-06	0.278610	1	0
MYT1	4661	broad.mit.edu	37	20	62850201	62850201	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:62850201C>A	ENST00000536311.1	+	12	2229	c.1865C>A	c.(1864-1866)gCc>gAc	p.A622D	MYT1_ENST00000328439.1_Intron|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	616					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCCCAAAGGCCTCTTCCCCC	0.542000													8	104					3.86212e-05	5.37617e-05	0.361761	1	0
CYP11B1	1584	broad.mit.edu	37	8	143955805	143955805	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:143955805A>T	ENST00000292427.4	-	9	1528	c.1496T>A	c.(1495-1497)tTc>tAc	p.F499Y	CYP11B1_ENST00000377675.3_Missense_Mutation_p.F570Y|CYP11B1_ENST00000517471.1_Missense_Mutation_p.F433Y	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	499					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.F499Y(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GATGGCTCTGAAGGTGAGGAG	0.562000									Familial Hyperaldosteronism type I				8	41					0	0	0.278610	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751822	26751822	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:26751822A>G	ENST00000396641.2	+	2	1251	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	LRRC3B_ENST00000417744.1_Missense_Mutation_p.Y220C|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Y220C	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	220						integral to membrane		p.Y220C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTGATCTCATATGTGGTATAT	0.463000													6	32					0	0	0.217242	0	0
VANGL2	57216	broad.mit.edu	37	1	160385911	160385911	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:160385911T>G	ENST00000368061.2	+	3	605	c.131T>G	c.(130-132)gTg>gGg	p.V44G		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	44					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.V44G(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACAAGTCGGTGACAATCCAG	0.637000													6	46					0	0	0.335167	0	0
GAB4	128954	broad.mit.edu	37	22	17472786	17472786	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr22:17472786C>A	ENST00000400588.1	-	2	562	c.455G>T	c.(454-456)gGc>gTc	p.G152V	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	152	PH.							p.G152V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CTGCCTGAAGCCACAGATCTG	0.547000													35	173					1.60099e-16	3.51211e-16	0.804634	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188799	140188799	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140188799C>A	ENST00000530339.1	+	1	2027	c.2027C>A	c.(2026-2028)cCa>cAa	p.P676Q	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P676Q|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P676Q|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1												p.P676Q(2)		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)			GGACAGGCGCCAAAGGCCTCC	0.657000													5	56					3.59834e-05	5.09359e-05	0.217242	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117424408	117424408	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:117424408G>A	ENST00000160373.3	-	5	2260	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	723								p.V723V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATAATAAAGTGACATTTCCCT	0.502000													18	110					0	0	0.539581	0	0
FAF1	11124	broad.mit.edu	37	1	50957420	50957420	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:50957420G>A	ENST00000396153.2	-	16	1999	c.1548C>T	c.(1546-1548)cgC>cgT	p.R516R	FAF1_ENST00000545823.1_Silent_p.R274R|FAF1_ENST00000371778.4_Silent_p.R516R	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	516					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.R516R(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CAAGTGAAAGGCGATAGGCCT	0.358000													9	60					0	0	0.307466	0	0
TMTC1	83857	broad.mit.edu	37	12	29659837	29659837	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:29659837G>T	ENST00000256062.5	-	18	2740	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	TMTC1_ENST00000539277.1_Missense_Mutation_p.A864D|TMTC1_ENST00000552618.1_Missense_Mutation_p.A888D|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.A926D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	864						integral to membrane	binding	p.A756D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATCCAATTTGGCAAGATTTTC	0.458000													5	138					0.014758	0.0161031	0.184627	1	0
CASR	846	broad.mit.edu	37	3	121980614	121980614	+	Silent	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:121980614C>G	ENST00000498619.1	+	4	1170	c.732C>G	c.(730-732)tcC>tcG	p.S244S	CASR_ENST00000490131.1_Silent_p.S244S|CASR_ENST00000296154.5_Silent_p.S244S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	244					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.S244S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AACTCATCTCCCAGTACTCTG	0.502000													17	122					0	0	0.575678	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741221	242741221	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:242741221C>A	ENST00000192314.6	+	3	276	c.145C>A	c.(145-147)Ccg>Acg	p.P49T	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	49					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.P49T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCTGAGGGGCCGCCGGTCAC	0.652000													5	30					0.014758	0.0161031	0.184627	1	0
ITGBL1	9358	broad.mit.edu	37	13	102250508	102250508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:102250508G>T	ENST00000376180.3	+	7	1093	c.874G>T	c.(874-876)Gga>Tga	p.G292*	ITGBL1_ENST00000545560.2_Nonsense_Mutation_p.G151*|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.G199*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	292	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G292*(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAGGTCATGGACAGTGTAA	0.428000													5	55					0.0215528	0.0232149	0.217242	1	0
RPL10L	140801	broad.mit.edu	37	14	47120666	47120666	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:47120666G>T	ENST00000298283.3	-	1	362	c.274C>A	c.(274-276)Cat>Aat	p.H92N		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	92					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.H92N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGGAAGGGATGGAGCCGCACT	0.547000													8	53					1.12685e-05	1.67429e-05	0.307466	1	0
CST8	10047	broad.mit.edu	37	20	23472256	23472256	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:23472256C>A	ENST00000246012.1	+	0	309					NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)							extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAGCTCCAGCCCTGAGACGAC	0.632000													12	42					3.07112e-06	4.80149e-06	0.387290	1	0
EVX1	2128	broad.mit.edu	37	7	27283045	27283045	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:27283045C>A	ENST00000496902.4	+	1	882	c.396C>A	c.(394-396)gcC>gcA	p.A132A	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	132						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A132A(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGACTGCGCCACCGGGAACG	0.662000													7	20					1.26484e-09	2.37655e-09	0.278610	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454067	84454067	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:84454067G>T	ENST00000377084.2	-	1	2461	c.1576C>A	c.(1576-1578)Ctc>Atc	p.L526I		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	526						integral to membrane		p.L526I(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTTCCGTGGAGGTCTATCTGG	0.547000													4	33					0.00198382	0.00240237	0.248553	1	0
PRKG1	5592	broad.mit.edu	37	10	53564427	53564427	+	Silent	SNP	C	C	A	rs142166726	byFrequency	TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:53564427C>A	ENST00000373980.4	+	4	1092	c.675C>A	c.(673-675)acC>acA	p.T225T	PRKG1_ENST00000401604.2_Silent_p.T210T|PRKG1_ENST00000373985.1_Silent_p.T198T	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	210					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.T225T(1)|p.T210T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCAAGCATACCGAGTATATGG	0.358000													6	29					2.7689e-08	4.93688e-08	0.248553	1	0
LCLAT1	253558	broad.mit.edu	37	2	30682489	30682489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:30682489G>T	ENST00000309052.4	+	2	220	c.11G>T	c.(10-12)aGg>aTg	p.R4M	LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R4M|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R4M|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000379509.3_Intron	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	4					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R4M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGCATTCCAGGGGAAGGGAA	0.443000													13	147					1.15088e-07	2.01765e-07	0.500413	1	0
SLC9A2	6549	broad.mit.edu	37	2	103324831	103324831	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:103324831C>A	ENST00000233969.2	+	12	2464	c.2322C>A	c.(2320-2322)ggC>ggA	p.G774G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	774						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.G774G(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACCAGTCTGGCTCAGAGAGGG	0.597000													29	69					8.58068e-18	1.90228e-17	0.717897	1	0
FAM47B	170062	broad.mit.edu	37	X	34962203	34962203	+	Missense_Mutation	SNP	C	C	T	rs112769272		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:34962203C>T	ENST00000329357.5	+	1	1291	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	419								p.R419W(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGACTCGTCGGGTGTCCAG	0.562000													4	41					0	0	0.150653	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553886	84553886	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:84553886C>G	ENST00000286744.5	+	10	1218	c.994C>G	c.(994-996)Cag>Gag	p.Q332E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q332E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	332						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.Q332E(1)		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)			CAGCGTGGTTCAGTTCTTCTT	0.493000													3	29					0	0	0.115264	0	0
AGAP2	116986	broad.mit.edu	37	12	58125159	58125159	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:58125159G>T	ENST00000257897.3	-	10	1212	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	AGAP2_ENST00000547588.1_Missense_Mutation_p.P712H	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	712	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.P712H(1)|p.P376H(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTTAATACTGGGGTGGTAGAG	0.453000													7	76					8.12818e-05	0.000110935	0.248553	1	0
FAM227B	196951	broad.mit.edu	37	15	49800533	49800533	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:49800533T>C	ENST00000299338.6	-	11	1190	c.887A>G	c.(886-888)cAa>cGa	p.Q296R	FAM227B_ENST00000561064.1_Missense_Mutation_p.Q262R	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B									p.Q296R(1)									AAAGCCTTTTTGAGGTTTTAA	0.299000													8	60					0	0	0.335167	0	0
KMT2C	58508	broad.mit.edu	37	7	151945325	151945325	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:151945325G>A	ENST00000355193.2	-	14	2412	c.2194C>T	c.(2194-2196)Ctt>Ttt	p.L732F	KMT2C_ENST00000262189.6_Missense_Mutation_p.L732F					lysine (K)-specific methyltransferase 2C									p.L732F(2)									CCAGTAGAAAGTTCAGAATTT	0.378000													5	94					0	0	0.248553	0	0
FBLN2	2199	broad.mit.edu	37	3	13669357	13669357	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:13669357G>T	ENST00000404922.3	+	11	2576	c.2457G>T	c.(2455-2457)acG>acT	p.T819T	FBLN2_ENST00000295760.7_Silent_p.T772T|FBLN2_ENST00000535798.1_Silent_p.T798T|FBLN2_ENST00000492059.1_Silent_p.T819T	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	818	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T238T(1)|p.T819T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGATGGGCACGCACACCTGCC	0.632000													3	24					0.00909568	0.0101901	0.150653	1	0
CTNNA2	1496	broad.mit.edu	37	2	80782895	80782895	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:80782895G>T	ENST00000466387.1	+	16	2342	c.1618G>T	c.(1618-1620)Gca>Tca	p.A540S	CTNNA2_ENST00000343114.3_Missense_Mutation_p.A219S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A540S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A574S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A540S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A540S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A540S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	540					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.A540S(1)|p.G541W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGACCGGACTGCAGGGGCCAT	0.512000													7	83					0.00198382	0.00240237	0.248553	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144857684	144857684	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:144857684G>C	ENST00000369359.4	-	42	6816	c.6778C>G	c.(6778-6780)Cca>Gca	p.P2260A	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P2018A|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P2209A|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P2124A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P2124A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2124					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P2124A(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACCAGAGCTGGGGAATTCATA	0.522000			T	PDGFRB	MPD								11	140					0	0	0.361761	0	0
CENPF	1063	broad.mit.edu	37	1	214816078	214816078	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:214816078T>C	ENST00000366955.3	+	12	4565	c.4397T>C	c.(4396-4398)cTg>cCg	p.L1466P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1562	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L1466P(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGATGCAGCTGGGCTTGGAG	0.488000													10	54					0	0	0.435327	0	0
CD101	9398	broad.mit.edu	37	1	117552674	117552674	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:117552674C>T	ENST00000256652.4	+	2	304	c.246C>T	c.(244-246)taC>taT	p.Y82Y	CD101_ENST00000369470.1_Silent_p.Y82Y	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	82	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.Y82Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTTCTCTTACGCAGTATATA	0.532000													6	45					0	0	0.217242	0	0
STAB1	23166	broad.mit.edu	37	3	52553399	52553399	+	Silent	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:52553399T>C	ENST00000321725.6	+	49	5230	c.5154T>C	c.(5152-5154)ccT>ccC	p.P1718P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1718					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	p.P1718P(1)		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)		ACTGGGAGCCTGATGATGCTC	0.662000													10	66					0	0	0.361761	0	0
PBX3	5090	broad.mit.edu	37	9	128697757	128697757	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:128697757A>T	ENST00000373487.4	+	5	794	c.714A>T	c.(712-714)aaA>aaT	p.K238N	PBX3_ENST00000342287.5_Missense_Mutation_p.K238N|PBX3_ENST00000373483.2_Missense_Mutation_p.K57N|PBX3_ENST00000373489.5_Missense_Mutation_p.K238N|PBX3_ENST00000447726.2_Missense_Mutation_p.K163N|PBX3_ENST00000538998.1_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	238					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	p.K238N(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ATAGACGGAAAAGGCGTAACT	0.398000													6	41					0	0	0.248553	0	0
FCRL3	115352	broad.mit.edu	37	1	157665181	157665181	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:157665181G>T	ENST00000368184.3	-	8	1640	c.1349C>A	c.(1348-1350)tCc>tAc	p.S450Y	FCRL3_ENST00000368186.5_Missense_Mutation_p.S450Y|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	450	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.S450Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGCATCACAGGAGTAGTTTCC	0.527000													6	121					0.00448238	0.00526083	0.307466	1	0
CLSPN	63967	broad.mit.edu	37	1	36226071	36226071	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:36226071C>A	ENST00000251195.5	-	8	1547	c.1451G>T	c.(1450-1452)gGg>gTg	p.G484V	CLSPN_ENST00000520551.1_Missense_Mutation_p.G484V|CLSPN_ENST00000373220.3_Missense_Mutation_p.G484V|CLSPN_ENST00000318121.3_Missense_Mutation_p.G484V			Q9HAW4	CLSPN_HUMAN	claspin	484					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	p.G484V(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCAGGTGGCCCAACTGCTGA	0.458000													22	102					8.04996e-18	1.79411e-17	0.608945	1	0
NPY1R	4886	broad.mit.edu	37	4	164247685	164247685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:164247685G>A	ENST00000296533.2	-	2	553	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	8					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.Q8*(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTCAACCTGGGAAAATAAT	0.358000													5	36					0	0	0.184627	0	0
LPO	4025	broad.mit.edu	37	17	56324947	56324947	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:56324947G>T	ENST00000262290.4	+	4	589	c.273G>T	c.(271-273)tgG>tgT	p.W91C	LPO_ENST00000421678.2_Intron|LPO_ENST00000543544.1_Missense_Mutation_p.W32C|LPO_ENST00000582328.1_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	91					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.W91C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GACAGGTGTGGGAGGAGTCTT	0.577000													5	58					0.000602214	0.000774012	0.184627	1	0
MLLT10	8028	broad.mit.edu	37	10	21962366	21962366	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:21962366C>T	ENST00000377072.3	+	11	1487	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	MLLT10_ENST00000446906.2_Missense_Mutation_p.S380L|MLLT10_ENST00000307729.7_Missense_Mutation_p.S380L|MLLT10_ENST00000377059.3_Missense_Mutation_p.S380L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	380	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S380L(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTACAGACTCAGATCTGCGT	0.453000			T	"""MLL, PICALM, CDK6"""	AL								12	122					0	0	0.435327	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65242117	65242117	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:65242117C>A	ENST00000380230.3	+	14	1436	c.1407C>A	c.(1405-1407)ggC>ggA	p.G469G	ANKDD1A_ENST00000395720.1_Silent_p.G469G|ANKDD1A_ENST00000395723.1_Silent_p.G346G|ANKDD1A_ENST00000357698.3_Silent_p.G437G	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	469	Death.				signal transduction			p.G469G(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GGCTGCATGGCGTGGCCACGG	0.617000													4	72					0.000602214	0.000774012	0.184627	1	0
SORCS1	114815	broad.mit.edu	37	10	108427547	108427547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:108427547C>A	ENST00000263054.6	-	17	2210	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E735*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E270*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	735						integral to membrane	neuropeptide receptor activity|protein binding	p.E735*(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTGTCGCTCATAACCATAG	0.463000													4	12					0.00116845	0.00146143	0.217242	1	0
SLC39A6	25800	broad.mit.edu	37	18	33702072	33702072	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:33702072C>T	ENST00000269187.5	-	5	1515	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	SLC39A6_ENST00000440549.2_Missense_Mutation_p.M159I|SLC39A6_ENST00000590986.1_Missense_Mutation_p.M434I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	434						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.M434I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CAACAAGAAACATGAAATACA	0.358000													10	115					0	0	0.335167	0	0
FZD7	8324	broad.mit.edu	37	2	202901037	202901037	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:202901037C>T	ENST00000286201.1	+	1	1728	c.1667C>T	c.(1666-1668)tCg>tTg	p.S556L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	556					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S556L(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACCCTGCAGTCGTGGCGCCGC	0.607000													13	37					0	0	0.457914	0	0
SPATA21	374955	broad.mit.edu	37	1	16736440	16736440	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:16736440G>T	ENST00000335496.1	-	6	725	c.243C>A	c.(241-243)ttC>ttA	p.F81L	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.F58L	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	81							calcium ion binding	p.F81L(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGCCCTGCCGGAAGTTCCCGA	0.647000													6	44					0.00198382	0.00240237	0.248553	1	0
C10orf90	118611	broad.mit.edu	37	10	128147664	128147664	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:128147664G>T	ENST00000284694.7	-	6	1962	c.1842C>A	c.(1840-1842)agC>agA	p.S614R	C10orf90_ENST00000356858.3_Missense_Mutation_p.S567R|C10orf90_ENST00000544758.1_Missense_Mutation_p.S711R|C10orf90_ENST00000454341.1_Missense_Mutation_p.S517R|C10orf90_ENST00000480379.1_Missense_Mutation_p.S18R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	614								p.S614R(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGGAAGGAGGCTCTGCTTCT	0.552000													6	42					5.9392e-07	9.99408e-07	0.217242	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31127290	31127290	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:31127290C>A	ENST00000304166.4	+	12	1223	c.934C>A	c.(934-936)Cct>Act	p.P312T	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P312T|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P312T|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P291T	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	312					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.P312N(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GATCAAAGGCCCTGTGGTTGG	0.517000													8	44					0.000157383	0.000212037	0.278610	1	0
PCDH15	65217	broad.mit.edu	37	10	55568998	55568998	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:55568998G>C	ENST00000395445.1	-	36	5206	c.4812C>G	c.(4810-4812)agC>agG	p.S1604R	PCDH15_ENST00000395442.1_Missense_Mutation_p.S469R|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.S800R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.S538R	NM_001142769.1	NP_001136241.1	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)				CAGTATAGTCGCTGGAGGATT	0.453000										HNSCC(58;0.16)			4	40					0	0	0.150653	0	0
TAF1C	9013	broad.mit.edu	37	16	84217022	84217022	+	Silent	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:84217022A>T	ENST00000567759.1	-	4	494	c.312T>A	c.(310-312)acT>acA	p.T104T	TAF1C_ENST00000541676.1_Silent_p.T37T|TAF1C_ENST00000378541.4_Silent_p.T104T|TAF1C_ENST00000341690.6_Silent_p.T37T|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000566732.1_Silent_p.T104T	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	104					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.T104T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCACCTGCTCAGTCACATCCA	0.647000													4	20					0	0	0.150653	0	0
OR2H2	7932	broad.mit.edu	37	6	29556131	29556131	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:29556131G>T	ENST00000383640.2	+	1	449	c.410G>T	c.(409-411)cGc>cTc	p.R137L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	137					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R137L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCCACCCCCGCCTGTGCTGG	0.612000													13	85					4.3838e-07	7.43649e-07	0.435327	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573085	140573085	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140573085G>T	ENST00000239446.4	+	1	1144	c.960G>T	c.(958-960)caG>caT	p.Q320H		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		320	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.Q320H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATATACAGGCAATGGACG	0.373000													9	60					6.40141e-05	8.85212e-05	0.387290	1	0
GRID2	2895	broad.mit.edu	37	4	94006168	94006168	+	Silent	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:94006168C>G	ENST00000282020.4	+	3	525	c.267C>G	c.(265-267)ggC>ggG	p.G89G	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	89					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G89G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGAATCAAGGCATCTTGGCCC	0.483000													7	44					0	0	0.248553	0	0
POLQ	10721	broad.mit.edu	37	3	121206379	121206379	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:121206379C>A	ENST00000264233.5	-	16	5527	c.5399G>T	c.(5398-5400)aGt>aTt	p.S1800I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1800					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.S1935I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTTGTGTCACTAATAGGGCT	0.393000								DNA polymerases (catalytic subunits)					10	90					1.58986e-06	2.58199e-06	0.361761	1	0
CHTOP	26097	broad.mit.edu	37	1	153609129	153609129	+	Splice_Site	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:153609129G>T	ENST00000368694.3	+	2	377	c.65_splice	c.e2+1	p.R22_splice	CHTOP_ENST00000368690.3_Splice_Site_p.R22_splice|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000403433.1_Splice_Site_p.R22_splice	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	p.R22L(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CTAAATGAGCGGTGAGGCAGC	0.443000													12	20					0.000978159	0.00125336	0.387290	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589702	140589702	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140589702C>A	ENST00000239450.2	+	1	1412	c.1223C>A	c.(1222-1224)cCg>cAg	p.P408Q	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P71Q	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		408	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P408Q(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGAGACCGCTGGACAGA	0.502000													6	31					3.59834e-05	5.09359e-05	0.217242	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298594	125298594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:125298594C>T	ENST00000538699.1	-	2	1394	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	DCAF12L2_ENST00000360028.2_Nonsense_Mutation_p.W438*	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	438								p.W438*(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCATCTCCGGCCAGTTGTAGC	0.577000													23	85					0	0	0.639603	0	0
PREP	5550	broad.mit.edu	37	6	105726117	105726117	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:105726117C>A	ENST00000369110.3	-	15	2227	c.2035G>T	c.(2035-2037)Ggc>Tgc	p.G679C		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	679					proteolysis		serine-type endopeptidase activity	p.G679C(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GCCCCGTGGCCCGCCTTGGTG	0.582000													11	52					3.86212e-05	5.37617e-05	0.361761	1	0
NFASC	23114	broad.mit.edu	37	1	204985582	204985582	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:204985582C>A	ENST00000367172.4	+	32	4287	c.3959C>A	c.(3958-3960)aCg>aAg	p.T1320K	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Missense_Mutation_p.T1147K|NFASC_ENST00000401399.1_Missense_Mutation_p.T1213K|NFASC_ENST00000513543.1_Missense_Mutation_p.T1142K|NFASC_ENST00000360049.4_Missense_Mutation_p.T1142K|NFASC_ENST00000338515.6_Missense_Mutation_p.T1230K|NFASC_ENST00000338586.6_Missense_Mutation_p.T1197K|NFASC_ENST00000367171.4_Missense_Mutation_p.T1305K|NFASC_ENST00000539706.1_Missense_Mutation_p.T1147K|NFASC_ENST00000339876.6_Missense_Mutation_p.T1213K|NFASC_ENST00000367170.4_Missense_Mutation_p.T1241K|NFASC_ENST00000404076.1_Missense_Mutation_p.T1130K|NFASC_ENST00000367169.4_Missense_Mutation_p.T1044K			O94856	NFASC_HUMAN	neurofascin	1320					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.T1142K(1)|p.T1213K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCCAGTACACGGTCAAAAAG	0.572000													10	56					2.27111e-07	3.93221e-07	0.411799	1	0
BAIAP3	8938	broad.mit.edu	37	16	1392054	1392054	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:1392054G>T	ENST00000324385.5	+	10	1107	c.949G>T	c.(949-951)Ggc>Tgc	p.G317C	BAIAP3_ENST00000397488.2_Missense_Mutation_p.G299C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G282C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G282C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G259C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G299C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G254C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	317	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.G317C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGGCCTGAAGGGCATGGGCAG	0.617000													6	23					0.0215528	0.0232149	0.217242	1	0
CSAG1	158511	broad.mit.edu	37	X	151908824	151908824	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:151908824G>C	ENST00000370291.2	+	4	343	c.63G>C	c.(61-63)caG>caC	p.Q21H	CSAG1_ENST00000452779.2_Missense_Mutation_p.Q21H|CSAG1_ENST00000370287.3_Missense_Mutation_p.Q21H			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	21								p.Q21H(1)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGACCAGGTGGACTGGA	0.512000													29	137					0	0	0.729181	0	0
ZNF644	84146	broad.mit.edu	37	1	91405405	91405405	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:91405405C>A	ENST00000370440.1	-	3	1723	c.1506G>T	c.(1504-1506)gtG>gtT	p.V502V	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.V502V|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V502V(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGGTACCAAACACACACTGAG	0.408000													11	110					5.50884e-06	8.39346e-06	0.411799	1	0
FLG	2312	broad.mit.edu	37	1	152277601	152277601	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:152277601G>T	ENST00000368799.1	-	3	9796	c.9761C>A	c.(9760-9762)cCc>cAc	p.P3254H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3254	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3254H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGACCTGGGGTGTCTGGA	0.582000									Ichthyosis				18	288					1.67942e-08	3.05946e-08	0.539581	1	0
GRM8	2918	broad.mit.edu	37	7	126173676	126173676	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:126173676G>C	ENST00000339582.2	-	9	2568	c.1760C>G	c.(1759-1761)cCt>cGt	p.P587R	GRM8_ENST00000358373.3_Missense_Mutation_p.P587R|GRM8_ENST00000444921.2_Missense_Mutation_p.P587R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	587					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.P587R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACAAACACAGGCACCACAGC	0.517000										HNSCC(24;0.065)			3	24					0	0	0.115264	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696433	10696433	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:10696433G>A	ENST00000302079.6	-	42	6592	c.6593C>T	c.(6592-6594)aCt>aTt	p.T2198I	PIEZO2_ENST00000285141.4_Missense_Mutation_p.T53I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T155I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2223I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2198I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2198						integral to membrane	ion channel activity	p.T2198I(1)|p.T53I(1)									GAAGTCCACAGTGTCAGCCAG	0.542000													8	61					0	0	0.307466	0	0
CD163L1	283316	broad.mit.edu	37	12	7522072	7522072	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:7522072G>T	ENST00000313599.3	-	15	3977	c.3920C>A	c.(3919-3921)aCc>aAc	p.T1307N	CD163L1_ENST00000396630.1_Missense_Mutation_p.T1307N|CD163L1_ENST00000416109.2_Missense_Mutation_p.T1317N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1307	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.T1307N(1)		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						CAACCAGATGGTTCCAGTTCC	0.577000													30	83					9.78306e-22	2.21573e-21	0.740014	1	0
OR2Y1	134083	broad.mit.edu	37	5	180166828	180166828	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:180166828G>T	ENST00000307832.2	-	1	271	c.231C>A	c.(229-231)acC>acA	p.T77T		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T77T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGGGCACGGTGCTGGTGG	0.587000													3	37					0.115264	0.120438	0.115264	1	0
POTEC	388468	broad.mit.edu	37	18	14542797	14542797	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:14542797C>G	ENST00000358970.5	-	1	348	c.349G>C	c.(349-351)Gtg>Ctg	p.V117L	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	117								p.V117L(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAAGCGCCCACGTTGCTCTTG	0.602000													5	163					0	0	0.217242	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045568	142045568	+	RNA	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:142045568G>T	ENST00000390392.3	+	0	207																											ACCTGGTCATGGGAATGACAA	0.493000													13	149					2.61681e-11	5.29684e-11	0.457914	1	0
MAML3	55534	broad.mit.edu	37	4	140640518	140640518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:140640518C>A	ENST00000509479.2	-	5	4232	c.3376G>T	c.(3376-3378)Gag>Tag	p.E1126*	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1122					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.E1126*(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGCATCCACTCGTCCCCTGGC	0.522000													5	14					1.23904e-05	1.82802e-05	0.184627	1	0
UMOD	7369	broad.mit.edu	37	16	20347987	20347987	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:20347987C>A	ENST00000396134.2	-	10	2025	c.1902G>T	c.(1900-1902)ttG>ttT	p.L634F	UMOD_ENST00000570689.1_Missense_Mutation_p.L601F|UMOD_ENST00000302509.4_Missense_Mutation_p.L601F|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.L634F|UMOD_ENST00000396138.4_Missense_Mutation_p.L650F|UMOD_ENST00000396142.2_Missense_Mutation_p.L601F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	601					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	p.L601F(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGATGGGACCCAAGTTCAGGA	0.522000													3	35					0.004672	0.00545284	0.115264	1	0
AIM1	202	broad.mit.edu	37	6	106968952	106968952	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:106968952G>T	ENST00000369066.3	+	2	3132	c.2645G>T	c.(2644-2646)gGt>gTt	p.G882V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	882							sugar binding	p.G882V(1)		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)		ACGACTGAGGGTGCCCCGCCC	0.483000													5	62					0.014758	0.0161031	0.184627	1	0
OR4M1	441670	broad.mit.edu	37	14	20249073	20249073	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:20249073G>T	ENST00000315957.4	+	1	673	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAGGAGTTAGTGATGATCTG	0.478000													39	252					8.16904e-11	1.60696e-10	0.834066	1	0
GALT	2592	broad.mit.edu	37	9	34647906	34647906	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:34647906A>T	ENST00000378842.3	+	5	497	c.455A>T	c.(454-456)gAt>gTt	p.D152V	GALT_ENST00000450095.2_Missense_Mutation_p.D43V|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	152					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	p.D152V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCTGTTGTTGATGCATGGGCC	0.602000									Galactosemia				5	48					0	0	0.248553	0	0
GPR137	56834	broad.mit.edu	37	11	64055924	64055924	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:64055924G>T	ENST00000539851.1	+	6	1363	c.896G>T	c.(895-897)cGg>cTg	p.R299L	GPR137_ENST00000313074.3_Missense_Mutation_p.R299L|GPR137_ENST00000411458.1_Missense_Mutation_p.R357L|GPR137_ENST00000377702.4_Missense_Mutation_p.R249L|GPR137_ENST00000438980.2_Missense_Mutation_p.R299L	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	299						integral to membrane		p.R299L(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGGGTGCACCGGCCCCCACAG	0.622000													24	104					9.04412e-07	1.48607e-06	0.681144	1	0
LYAR	55646	broad.mit.edu	37	4	4285410	4285410	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:4285410C>T	ENST00000343470.4	-	3	300	c.60G>A	c.(58-60)aaG>aaA	p.K20K	LYAR_ENST00000452476.1_Silent_p.K20K	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	20						nucleolus	metal ion binding|protein binding	p.K20K(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGACACATGCTTTTCCACTT	0.358000													10	30					0	0	0.361761	0	0
SPTA1	6708	broad.mit.edu	37	1	158589026	158589026	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:158589026C>A	ENST00000368148.3	-	45	6696	c.6516G>T	c.(6514-6516)tgG>tgT	p.W2172C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W2169C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2172					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	p.W2172C(1)		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)					TTTCCAGGATCCATTGAAGGA	0.488000													5	61					0.014758	0.0161031	0.184627	1	0
OR8D2	283160	broad.mit.edu	37	11	124189170	124189170	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:124189170C>G	ENST00000357438.2	-	1	1014	c.924G>C	c.(922-924)agG>agC	p.R308S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R308S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGGATGACTGCCTTCCCCTAG	0.403000													8	73					0	0	0.278610	0	0
STAC	6769	broad.mit.edu	37	3	36527655	36527655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:36527655G>T	ENST00000273183.3	+	5	901	c.601G>T	c.(601-603)Gag>Tag	p.E201*	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Nonsense_Mutation_p.E140*	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	201					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.E201*(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCCTGTCTACGAGACCCTCCG	0.552000													12	121					9.31168e-06	1.41362e-05	0.435327	1	0
MUC16	94025	broad.mit.edu	37	19	9077715	9077715	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:9077715G>T	ENST00000397910.4	-	3	9934	c.9731C>A	c.(9730-9732)cCa>cAa	p.P3244Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3245	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3244Q(2)		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						AAGGGTGACTGGTTCCACTGT	0.522000													12	72					3.07112e-06	4.80149e-06	0.387290	1	0
SLC26A10	65012	broad.mit.edu	37	12	58018712	58018712	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:58018712G>T	ENST00000320442.4	+	10	1602	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	431	STAS.					integral to membrane	antiporter activity	p.G431W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGGGACCCGTGGGCAGTTTCG	0.567000													30	72					8.4185e-14	1.79053e-13	0.760397	1	0
DMP1	1758	broad.mit.edu	37	4	88584415	88584415	+	Silent	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:88584415C>G	ENST00000339673.6	+	6	1584	c.1485C>G	c.(1483-1485)gcC>gcG	p.A495A	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.A479A|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	495					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.A495A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGTTGATGCCTATCACAACA	0.443000													7	94					0	0	0.248553	0	0
NUPL2	11097	broad.mit.edu	37	7	23239964	23239964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:23239964G>T	ENST00000258742.5	+	7	1131	c.872G>T	c.(871-873)gGg>gTg	p.G291V		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	291	Ser-rich.				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	p.G291V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTGGATTTGGGAAGCCTGAA	0.498000													6	11					3.59834e-05	5.09359e-05	0.217242	1	0
NOL4	8715	broad.mit.edu	37	18	31709869	31709869	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:31709869C>A	ENST00000261592.5	-	2	677	c.380G>T	c.(379-381)cGg>cTg	p.R127L	NOL4_ENST00000538587.1_Missense_Mutation_p.R53L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_Missense_Mutation_p.R13L|NOL4_ENST00000589544.1_Missense_Mutation_p.R127L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	127						nucleolus	RNA binding	p.R127L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGCGTGTTTCCGAATTTGTTC	0.363000													5	61					0.248553	0.253391	0.248553	1	0
OGDHL	55753	broad.mit.edu	37	10	50959886	50959886	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:50959886C>G	ENST00000374103.4	-	6	821	c.736G>C	c.(736-738)Gtg>Ctg	p.V246L	OGDHL_ENST00000419399.1_Missense_Mutation_p.V189L|OGDHL_ENST00000432695.1_Missense_Mutation_p.V37L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	246					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V246L(1)		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						ATGGAGCGCACTAGCCGGGCC	0.622000													5	72					0	0	0.217242	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31127291	31127291	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:31127291C>A	ENST00000304166.4	+	12	1224	c.935C>A	c.(934-936)cCt>cAt	p.P312H	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P312H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P312H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P291H	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	312					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.P312N(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ATCAAAGGCCCTGTGGTTGGC	0.517000													8	45					0.000157383	0.000212037	0.278610	1	0
OR2A25	392138	broad.mit.edu	37	7	143771412	143771412	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:143771412T>A	ENST00000408898.2	+	1	138	c.100T>A	c.(100-102)Tac>Aac	p.Y34N		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F33_Y34>LN(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTCCCTGTTCTACATCTTCAT	0.527000													13	53					0	0	0.411799	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131510	130131510	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:130131510C>G	ENST00000525842.1	-	2	626	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q	ZBTB44_ENST00000357899.4_Missense_Mutation_p.E87Q|ZBTB44_ENST00000530205.1_Missense_Mutation_p.E87Q|ZBTB44_ENST00000397753.1_Missense_Mutation_p.E87Q	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	87	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E87Q(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TAAGCATATTCTAAAAGAGGT	0.408000													3	37					0	0	0.150653	0	0
HERC2	8924	broad.mit.edu	37	15	28467330	28467330	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:28467330C>A	ENST00000261609.7	-	36	5604	c.5496G>T	c.(5494-5496)atG>atT	p.M1832I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1832					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.M1832I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGAAGCATTCATATCTTCCT	0.488000													5	31					2.0095e-06	3.22598e-06	0.248553	1	0
OR5R1	219479	broad.mit.edu	37	11	56184894	56184894	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:56184894T>A	ENST00000312253.1	-	1	814	c.815A>T	c.(814-816)aAg>aTg	p.K272M		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGAAGCCATCTTGTCTGTGTC	0.428000													19	80					0	0	0.592651	0	0
ACTN2	88	broad.mit.edu	37	1	236912455	236912455	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:236912455A>T	ENST00000366578.4	+	14	1713	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	ACTN2_ENST00000546208.1_Missense_Mutation_p.Q10L|ACTN2_ENST00000542672.1_Missense_Mutation_p.Q516L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	516					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.Q516L(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACCATTGATCAGCTTCACCTG	0.408000													16	67					0	0	0.500413	0	0
MAST1	22983	broad.mit.edu	37	19	12979561	12979561	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:12979561C>A	ENST00000251472.4	+	21	2710	c.2671C>A	c.(2671-2673)Cag>Aag	p.Q891K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	891					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.Q891K(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCGGCACCAGCAGATGTCAGG	0.597000													15	67					9.16793e-09	1.67745e-08	0.520397	1	0
NCAPD3	23310	broad.mit.edu	37	11	134080260	134080260	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:134080260C>A	ENST00000534548.2	-	4	535	c.471G>T	c.(469-471)ttG>ttT	p.L157F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	157					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.L157F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTTCCGATTCAAGTTAGATT	0.458000													5	56					1.23904e-05	1.82802e-05	0.184627	1	0
ORC2	4999	broad.mit.edu	37	2	201785791	201785791	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:201785791G>C	ENST00000234296.2	-	14	1468	c.1219C>G	c.(1219-1221)Caa>Gaa	p.Q407E		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	407					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.Q407E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CCAATGATTTGCTGGCTCTTC	0.353000													9	31					0	0	0.361761	0	0
FBLN1	2192	broad.mit.edu	37	22	45972975	45972975	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr22:45972975C>A	ENST00000348697.2	+	19	2106	c.1959C>A	c.(1957-1959)gaC>gaA	p.D653E	FBLN1_ENST00000327858.6_Missense_Mutation_p.D653E			P23142	FBLN1_HUMAN	fibulin 1	653					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D653E(1)|p.D653D(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTACATGGACGGCATGACCG	0.587000													6	20					0.00116845	0.00146143	0.217242	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	36					0	0	0.150653	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212382	26212382	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:26212382A>C	ENST00000379034.1	+	2	568	c.419A>C	c.(418-420)cAt>cCt	p.H140P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	140	Ser-rich.							p.H140P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCACTTCCCATGATGTCTCC	0.537000													4	46					0	0	0.150653	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976378	89976378	+	RNA	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:89976378C>A	ENST00000474213.1	+	0	284																											ACTCTGGGGTCCCAGACAGAT	0.488000													11	110					0.00185496	0.00231318	0.435327	1	0
ENAM	10117	broad.mit.edu	37	4	71508725	71508725	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:71508725C>A	ENST00000396073.3	+	9	1863	c.1582C>A	c.(1582-1584)Cca>Aca	p.P528T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	528					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.P528T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAGGATGCCATATGAATC	0.418000													12	85					6.81908e-15	1.47278e-14	0.457914	1	0
SH3BGR	6450	broad.mit.edu	37	21	40871811	40871811	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr21:40871811G>T	ENST00000333634.4	+	4	642	c.564G>T	c.(562-564)gtG>gtT	p.V188V	SH3BGR_ENST00000380637.3_Silent_p.V77V|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380631.1_Silent_p.V77V|SH3BGR_ENST00000380634.1_Silent_p.V77V	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	188	Glu-rich (acidic).		V -> A (in dbSNP:rs9974333).		protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	p.V188V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GTGAAGATGTGGGCAACCTCC	0.473000													4	38					5.9392e-07	9.99408e-07	0.217242	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177210	89177210	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:89177210A>T	ENST00000561129.2	+	1	256	c.126A>T	c.(124-126)agA>agT	p.R42S	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R42S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R42S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATACAGGCAGAGTTCTTGCCT	0.527000													5	48					0	0	0.248553	0	0
GAB4	128954	broad.mit.edu	37	22	17446080	17446080	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr22:17446080C>A	ENST00000400588.1	-	7	1474	c.1367G>T	c.(1366-1368)tGg>tTg	p.W456L		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	456								p.W456L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGTCCCAGACCAGGGCTCTGT	0.562000													6	15					8.12818e-05	0.000110935	0.248553	1	0
LAMP5	24141	broad.mit.edu	37	20	9510422	9510422	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:9510422G>C	ENST00000246070.2	+	6	1290	c.798G>C	c.(796-798)caG>caC	p.Q266H	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q222H	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	266						integral to membrane		p.Q266H(1)									CTGCCAACCAGGTGCAGATCC	0.547000													11	47					0	0	0.361761	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525751	176525751	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:176525751A>T	ENST00000367662.3	+	2	1457	c.293A>T	c.(292-294)gAc>gTc	p.D98V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D98V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	98					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D98V(2)		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						AGCAAACCAGACACTGAAGGA	0.572000													18	130					0	0	0.539581	0	0
FLI1	2313	broad.mit.edu	37	11	128642774	128642774	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:128642774C>A	ENST00000344954.6	+	4	772	c.384C>A	c.(382-384)aaC>aaA	p.N128K	FLI1_ENST00000281428.8_Missense_Mutation_p.N95K|FLI1_ENST00000429175.2_Missense_Mutation_p.N161K|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000534087.1_Missense_Mutation_p.N128K			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	161	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N161K(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TTTTCCAGAACATGGATGGCA	0.517000			T	EWSR1	Ewing sarcoma								7	118					0.0293803	0.0313241	0.248553	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215087	140215087	+	Missense_Mutation	SNP	C	C	A	rs139807581		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140215087C>A	ENST00000525929.1	+	1	1119	c.1119C>A	c.(1117-1119)agC>agA	p.S373R	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S373R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1												p.S373R(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGATTAGCGTGTTTGACC	0.493000													13	84					4.93089e-13	1.04346e-12	0.457914	1	0
OR2A12	346525	broad.mit.edu	37	7	143793022	143793022	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:143793022C>A	ENST00000408949.2	+	1	882	c.822C>A	c.(820-822)tcC>tcA	p.S274S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S274S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGATCCTTTCCCTGTTTTACA	0.517000													46	195					2.56175e-15	5.56151e-15	0.870114	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28733781	28733781	+	RNA	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:28733781G>T	ENST00000550043.1	+	0	186																											CGGAGCGCCCGGGATGCAGGA	0.617000													7	27					0.0293803	0.0313241	0.248553	1	0
MAN2A2	4122	broad.mit.edu	37	15	91450651	91450651	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:91450651C>T	ENST00000360468.3	+	7	1140	c.1122C>T	c.(1120-1122)cgC>cgT	p.R374R	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Silent_p.R374R	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	374					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.R374R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATTTCAAACGCCTGCCTGGTG	0.562000													14	61					0	0	0.479597	0	0
BAI3	577	broad.mit.edu	37	6	70092727	70092727	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:70092727T>G	ENST00000370598.1	+	31	5101	c.4280T>G	c.(4279-4281)gTc>gGc	p.V1427G	BAI3_ENST00000238918.8_Missense_Mutation_p.V633G|BAI3_ENST00000546190.1_Missense_Mutation_p.V391G	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1427					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1427G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTGCAGAAGGTCATGCATACA	0.328000													3	16					0	0	0.115264	0	0
WARS2	10352	broad.mit.edu	37	1	119575563	119575563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:119575563C>A	ENST00000235521.4	-	6	1080	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Nonsense_Mutation_p.E258*	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	352					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.E352*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTCTTCACCTCCTGGCACACA	0.423000													6	53					3.59834e-05	5.09359e-05	0.217242	1	0
ZNF490	57474	broad.mit.edu	37	19	12692409	12692409	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:12692409C>A	ENST00000311437.6	-	5	602	c.480G>T	c.(478-480)gtG>gtT	p.V160V		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V160V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCCCACACACACTGCAGT	0.433000													5	104					2.7689e-08	4.93688e-08	0.248553	1	0
MARCH11	441061	broad.mit.edu	37	5	16067903	16067903	+	Splice_Site	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:16067903C>G	ENST00000332432.8	-	4	1086		c.e4-1			NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11							cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACAATGAGACCTAAAATTTGA	0.368000													9	19					0	0	0.307466	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988094	92988094	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:92988094C>A	ENST00000268164.3	+	5	1014	c.777C>A	c.(775-777)atC>atA	p.I259I	ST8SIA2_ENST00000539113.1_Silent_p.I238I	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	259					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.I259I(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ACGAGCTTATCCTGAAGCACC	0.642000													4	65					0.00909568	0.0101901	0.150653	1	0
MUC16	94025	broad.mit.edu	37	19	9077714	9077714	+	Silent	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:9077714T>C	ENST00000397910.4	-	3	9935	c.9732A>G	c.(9730-9732)ccA>ccG	p.P3244P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3245	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3244Q(2)		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						GAAGGGTGACTGGTTCCACTG	0.522000													12	71					0	0	0.387290	0	0
NETO1	81832	broad.mit.edu	37	18	70451114	70451114	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:70451114T>A	ENST00000327305.6	-	7	1324	c.667A>T	c.(667-669)Atg>Ttg	p.M223L	NETO1_ENST00000583169.1_Missense_Mutation_p.M223L|NETO1_ENST00000299430.2_Missense_Mutation_p.M222L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	223	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.M223L(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAATTCTGCATCTCATAGTCC	0.348000													10	82					0	0	0.361761	0	0
SNORD115-44	100033818	broad.mit.edu	37	15	25496006	25496006	+	RNA	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:25496006G>T	ENST00000365391.1	+	0	1					NR_003359.1																						GCCCTTGGTTGGGTCAATGAT	0.522000													17	178					6.49762e-13	1.36125e-12	0.539581	1	0
CHN2	1124	broad.mit.edu	37	7	29535591	29535591	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:29535591C>A	ENST00000222792.6	+	8	1208	c.678C>A	c.(676-678)caC>caA	p.H226Q	CHN2_ENST00000409041.4_Missense_Mutation_p.H90Q|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000421775.2_Missense_Mutation_p.H90Q|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.H211Q|CHN2_ENST00000439711.2_Missense_Mutation_p.H90Q|CHN2_ENST00000539389.1_Missense_Mutation_p.H82Q|CHN2_ENST00000539406.1_Missense_Mutation_p.H301Q|CHN2_ENST00000424025.2_Missense_Mutation_p.H45Q|CHN2_ENST00000495789.2_Missense_Mutation_p.H239Q	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	226					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.H90Q(1)|p.H226Q(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCCCACACTGGTGTGAAT	0.453000													14	33					3.27435e-08	5.81336e-08	0.457914	1	0
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:70924812C>T	ENST00000603540.1	+	2	854	c.596C>T	c.(595-597)tCt>tTt	p.S199F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	199					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448000													5	60					0	0	0.248553	0	0
PTPRC	5788	broad.mit.edu	37	1	198677355	198677355	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:198677355G>C	ENST00000367376.2	+	10	1163	c.992G>C	c.(991-993)tGt>tCt	p.C331S	PTPRC_ENST00000348564.6_Missense_Mutation_p.C172S|PTPRC_ENST00000442510.2_Missense_Mutation_p.C333S|PTPRC_ENST00000594404.1_Missense_Mutation_p.C170S|PTPRC_ENST00000352140.3_Missense_Mutation_p.C283S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	331					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	p.C331S(1)		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						ACCTTTACTTGTGATACACAG	0.294000													10	46					0	0	0.335167	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423557	33423557	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:33423557G>T	ENST00000395064.2	+	2	948	c.680G>T	c.(679-681)gGg>gTg	p.G227V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G227V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						gaggaCCAGGGGTCAGCCACA	0.572000													10	42					7.48243e-07	1.2441e-06	0.335167	1	0
ZNF248	57209	broad.mit.edu	37	10	38145231	38145231	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:38145231T>A	ENST00000395867.3	-	3	558	c.8A>T	c.(7-9)aAa>aTa	p.K3I	ZNF248_ENST00000374648.3_Missense_Mutation_p.K3I|ZNF248_ENST00000357328.4_Missense_Mutation_p.K3I	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K3I(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CACCTGGGATTTGTTCATTTT	0.388000													10	73					0	0	0.411799	0	0
NPY1R	4886	broad.mit.edu	37	4	164246588	164246588	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:164246588C>G	ENST00000296533.2	-	3	1553	c.1022G>C	c.(1021-1023)cGg>cCg	p.R341P	NPY1R_ENST00000509586.1_Missense_Mutation_p.R98P	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	341					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R341P(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCCCGAGACCGGAAATCACA	0.403000													6	115					0	0	0.248553	0	0
DOCK8	81704	broad.mit.edu	37	9	334314	334314	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:334314C>T	ENST00000432829.2	+	11	1327	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	DOCK8_ENST00000469391.1_Silent_p.P337P|DOCK8_ENST00000453981.1_Silent_p.P405P	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	405	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.P405P(1)|p.P337P(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTGGGCACCCATAAGCTTAT	0.463000													6	82					0	0	0.248553	0	0
AP5Z1	9907	broad.mit.edu	37	7	4825961	4825961	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:4825961A>T	ENST00000348624.4	+	10	1307	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L	AP5Z1_ENST00000401897.1_Missense_Mutation_p.M405L	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	405					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	p.M1116L(1)|p.M249L(1)									CCACAGCCCCATGCTGGCCTT	0.602000													20	85					0	0	0.575678	0	0
IL36G	56300	broad.mit.edu	37	2	113742497	113742497	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:113742497C>A	ENST00000259205.4	+	5	450	c.381C>A	c.(379-381)acC>acA	p.T127T	IL36G_ENST00000376489.2_Silent_p.T92T	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	127					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.T127T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTGGTAGGACCTCCACCCTTG	0.512000													18	43					2.35188e-11	4.80702e-11	0.539581	1	0
ENPP3	5169	broad.mit.edu	37	6	132067981	132067981	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:132067981G>T	ENST00000414305.1	+	26	2841	c.2513G>T	c.(2512-2514)cGg>cTg	p.R838L	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R838L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	838	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R838L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CACATTGCCCGGGTCCGTGAT	0.393000													6	65					0.0293803	0.0313241	0.248553	1	0
HERC2P2	400322	broad.mit.edu	37	15	23299984	23299984	+	RNA	SNP	G	G	A	rs429570		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:23299984G>A	ENST00000560464.1	-	0	4303																											TTCCTTCTGGGAAATCCCATC	0.582000													3	22					0	0	0.150653	0	0
NPSR1	387129	broad.mit.edu	37	7	34889213	34889213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:34889213G>T	ENST00000381539.3	+	10	1166	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	NPSR1_ENST00000360581.1_Silent_p.R354R|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000381542.1_Silent_p.R288R			Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R354L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACGTTCCGGGAGAGAACTG	0.483000													8	87					7.48243e-07	1.2441e-06	0.335167	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249106302	249106302	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:249106302C>A	ENST00000366472.5	-	7	2208	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.A295S|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	327								p.A327S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTGTCGGGGGCGGGGCCGGGC	0.706000													3	12					0.00909568	0.0101901	0.150653	1	0
SLC13A1	6561	broad.mit.edu	37	7	122821070	122821070	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:122821070G>T	ENST00000194130.2	-	2	224	c.185C>A	c.(184-186)cCt>cAt	p.P62H	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	62						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.P62H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATTAAACTAGGTAGCAAAGC	0.418000													4	34					0.150653	0.154715	0.150653	1	0
AGRN	375790	broad.mit.edu	37	1	979212	979212	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:979212G>T	ENST00000379370.2	+	10	1858	c.1808G>T	c.(1807-1809)gGa>gTa	p.G603V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	603					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.G603L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGACCTGTGGAGATGCCGTG	0.711000													6	31					3.59834e-05	5.09359e-05	0.217242	1	0
USP33	23032	broad.mit.edu	37	1	78167087	78167087	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:78167087C>T	ENST00000370793.1	-	23	2915	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	USP33_ENST00000357428.1_Missense_Mutation_p.E857K|USP33_ENST00000370794.3_Missense_Mutation_p.E826K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	857	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.E857K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CTTTCCCATTCTCTAAACCAC	0.338000													9	92					0	0	0.361761	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031830	10031830	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:10031830C>T	ENST00000396573.2	-	4	1302	c.993G>A	c.(991-993)atG>atA	p.M331I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.M174I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M331I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M331I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M331I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M331I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	331					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	p.M331I(1)		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)	GCAAGGTGTGCATCGGGACCT	0.517000													5	18					0	0	0.184627	0	0
EFCAB13	124989	broad.mit.edu	37	17	45471442	45471442	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:45471442C>T	ENST00000331493.2	+	16	2189	c.1778C>T	c.(1777-1779)aCg>aTg	p.T593M	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T497M	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13									p.T593M(1)									ATGAGCAACACGGAATGCTTC	0.299000													10	80					0	0	0.361761	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569035	61569035	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:61569035G>A	ENST00000457692.1	+	7	930	c.597G>A	c.(595-597)gtG>gtA	p.V199V	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.V199V	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	199					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.V199E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTCCTGGTGAATGCTGTCT	0.378000													7	72					0	0	0.278610	0	0
LAMA2	3908	broad.mit.edu	37	6	129475688	129475688	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:129475688G>T	ENST00000421865.2	+	8	1115	c.1066G>T	c.(1066-1068)Gat>Tat	p.D356Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	356	Laminin EGF-like 2.				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	p.D356Y(1)		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)		ATGCTATTATGATGAAAATGT	0.318000													4	51					0.150653	0.154715	0.150653	1	0
SRPX2	27286	broad.mit.edu	37	X	99924327	99924327	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:99924327G>A	ENST00000373004.3	+	10	1606	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	393					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.R393Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGCGCATCCGGGAGCAACAG	0.632000													3	23					0	0	0.115264	0	0
DDX60	55601	broad.mit.edu	37	4	169158468	169158468	+	Silent	SNP	G	G	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:169158468G>C	ENST00000393743.3	-	32	4671	c.4380C>G	c.(4378-4380)ctC>ctG	p.L1460L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1460							ATP binding|ATP-dependent helicase activity|RNA binding	p.L1460L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GATCATGGAAGAGTCCATTTA	0.353000													4	12					0	0	0.184627	0	0
PPFIA1	8500	broad.mit.edu	37	11	70172854	70172854	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:70172854T>A	ENST00000253925.7	+	7	1075	c.860T>A	c.(859-861)cTg>cAg	p.L287Q	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.L287Q	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	287					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.L287Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAGAGGATCTGGACACGGCT	0.428000													17	109					0	0	0.557998	0	0
OR2H1	26716	broad.mit.edu	37	6	29429977	29429977	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:29429977C>A	ENST00000377136.1	+	4	896	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	OR2H1_ENST00000396792.2_Missense_Mutation_p.S144Y|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.S144Y|OR2H1_ENST00000442615.1_Missense_Mutation_p.S144Y|OR2H1_ENST00000377132.1_Missense_Mutation_p.S144Y			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S144Y(1)		large_intestine(5)|lung(12)	17						CAGCTGGCATCTGTGGCCTGG	0.557000													10	151					3.86212e-05	5.37617e-05	0.361761	1	0
ACTRT2	140625	broad.mit.edu	37	1	2938505	2938505	+	Missense_Mutation	SNP	C	C	A	rs140563911	by1000genomes	TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:2938505C>A	ENST00000378404.2	+	1	460	c.255C>A	c.(253-255)gaC>gaA	p.D85E		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	85						cytoplasm|cytoskeleton		p.D85E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGTGGGATGACGTGGAGAGAC	0.612000													10	69					1.58986e-06	2.58199e-06	0.361761	1	0
PZP	5858	broad.mit.edu	37	12	9322124	9322124	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:9322124C>T	ENST00000261336.2	-	16	1931	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	PZP_ENST00000381997.2_Missense_Mutation_p.E504K	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.E504K(1)|p.E635K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTTGTTCTTCCTCCTGCTGG	0.433000													9	37					0	0	0.335167	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485160	97485160	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:97485160C>A	ENST00000376705.2	+	2	1148	c.1124C>A	c.(1123-1125)cCc>cAc	p.P375H		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	375						integral to membrane	sulfotransferase activity	p.P375H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TTCATCTCCCCCTTCACACAG	0.488000													12	69					1.49906e-05	2.19617e-05	0.457914	1	0
MASP1	5648	broad.mit.edu	37	3	186978605	186978605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:186978605G>T	ENST00000337774.5	-	4	860	c.471C>A	c.(469-471)tgC>tgA	p.C157*	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Nonsense_Mutation_p.C44*|MASP1_ENST00000392470.2_Nonsense_Mutation_p.C131*|MASP1_ENST00000169293.6_Nonsense_Mutation_p.C157*|MASP1_ENST00000296280.6_Nonsense_Mutation_p.C157*	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	157	EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.C157*(3)|p.C157C(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGTAGTTGTGGCAGTAGTGGT	0.537000													4	42					2.56e-06	4.0477e-06	0.150653	1	0
STK35	140901	broad.mit.edu	37	20	2097421	2097421	+	Silent	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:2097421A>T	ENST00000381482.3	+	3	1273	c.1002A>T	c.(1000-1002)ccA>ccT	p.P334P	STK35_ENST00000246032.3_Silent_p.P201P|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	334	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	p.P334P(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GGCCAGACCCAGCCACCAACA	0.522000													20	97					0	0	0.575678	0	0
OR2T8	343172	broad.mit.edu	37	1	248084469	248084469	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:248084469C>A	ENST00000319968.4	+	1	150	c.150C>A	c.(148-150)gaC>gaA	p.D50E		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D50E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCACTGGGACCACCGGCTCC	0.532000													4	59					0.00829132	0.00954413	0.361761	1	0
SLC11A2	4891	broad.mit.edu	37	12	51399200	51399200	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:51399200C>T	ENST00000394904.3	-	4	339	c.290G>A	c.(289-291)cGt>cAt	p.R97H	SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H|SLC11A2_ENST00000262051.7_Missense_Mutation_p.R68H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	68					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.R68H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCAGAGTTTACGAAAGCTAAA	0.413000													7	32					0	0	0.307466	0	0
PKP2	5318	broad.mit.edu	37	12	32975478	32975478	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:32975478T>A	ENST00000340811.4	-	8	1870	c.1762A>T	c.(1762-1764)Att>Ttt	p.I588F	PKP2_ENST00000070846.6_Missense_Mutation_p.I632F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	632					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I632F(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CGGTTTTGAATATAGATATTC	0.418000													10	53					0	0	0.335167	0	0
PLD5	200150	broad.mit.edu	37	1	242253259	242253259	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:242253259T>A	ENST00000442594.2	-	11	1741	c.1232A>T	c.(1231-1233)cAg>cTg	p.Q411L	PLD5_ENST00000427495.1_Missense_Mutation_p.Q441L|PLD5_ENST00000536534.1_Missense_Mutation_p.Q503L	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	503						integral to membrane	catalytic activity	p.Q411L(1)|p.Q503L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTTGGTTGGCTGTAAGGTTTT	0.473000													23	190					0	0	0.654019	0	0
PGK2	5232	broad.mit.edu	37	6	49754648	49754648	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:49754648G>T	ENST00000304801.3	-	1	405	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	85					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L85I(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGGATTTGAGCTCAACAGCA	0.512000													7	78					0.00307968	0.00365548	0.278610	1	0
ZFP3	124961	broad.mit.edu	37	17	4995008	4995008	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:4995008C>T	ENST00000318833.3	+	2	545	c.209C>T	c.(208-210)cCa>cTa	p.P70L		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P70L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AGAGACTTTCCATCAGGGTTG	0.473000													3	31					0	0	0.150653	0	0
WDR47	22911	broad.mit.edu	37	1	109525251	109525251	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:109525251T>C	ENST00000357672.3	-	11	2537	c.2162A>G	c.(2161-2163)cAt>cGt	p.H721R	WDR47_ENST00000400794.3_Missense_Mutation_p.H757R|WDR47_ENST00000361054.3_Missense_Mutation_p.H721R|WDR47_ENST00000369962.3_Missense_Mutation_p.H749R|WDR47_ENST00000369965.4_Missense_Mutation_p.H750R			O94967	WDR47_HUMAN	WD repeat domain 47	749								p.H750R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ACTCAAAGCATGGAGGCCCTG	0.393000													16	95					0	0	0.557998	0	0
COL6A6	131873	broad.mit.edu	37	3	130284251	130284251	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:130284251G>T	ENST00000358511.6	+	3	1106	c.1075G>T	c.(1075-1077)Ggt>Tgt	p.G359C	COL6A6_ENST00000453409.2_Missense_Mutation_p.G359C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	359	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.G359C(1)		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						CCGACGGGAGGGTGTGACCAT	0.562000													15	112					2.61681e-11	5.29684e-11	0.457914	1	0
CACNA2D1	781	broad.mit.edu	37	7	81598256	81598256	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:81598256A>T	ENST00000356860.3	-	29	2680	c.2342T>A	c.(2341-2343)aTg>aAg	p.M781K	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.M793K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	793						voltage-gated calcium channel complex	metal ion binding	p.M781N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTGCTTACCATAATGCCCGA	0.274000													10	98					0	0	0.361761	0	0
FRMD6	122786	broad.mit.edu	37	14	52188670	52188670	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:52188670T>A	ENST00000395718.2	+	12	1625	c.1340T>A	c.(1339-1341)aTa>aAa	p.I447K	FRMD6_ENST00000344768.5_Missense_Mutation_p.I455K|FRMD6_ENST00000554167.1_Missense_Mutation_p.I378K|FRMD6_ENST00000356218.4_Missense_Mutation_p.I447K|FRMD6_ENST00000553556.1_Missense_Mutation_p.I97K	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	455						cytoskeleton|mitochondrion|plasma membrane	binding	p.I447K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTGTCAGAAATAGAGATGTTG	0.418000													4	51					0	0	0.150653	0	0
CDH20	28316	broad.mit.edu	37	18	59212266	59212266	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:59212266C>A	ENST00000262717.4	+	10	1935	c.1537C>A	c.(1537-1539)Cag>Aag	p.Q513K	CDH20_ENST00000536675.2_Missense_Mutation_p.Q513K|CDH20_ENST00000538374.1_Missense_Mutation_p.Q513K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q513K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAGCTGATCCAGACAGTGAG	0.522000													4	39					0.150653	0.154715	0.150653	1	0
RDH8	50700	broad.mit.edu	37	19	10124143	10124143	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:10124143C>A	ENST00000591589.1	+	1	219	c.30C>A	c.(28-30)ggC>ggA	p.G10G	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGCTGCCCGGCGGAGGTCACG	0.627000													8	22					0.27861	0.283344	0.278610	1	0
NAT1	9	broad.mit.edu	37	8	18079764	18079764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:18079764C>T	ENST00000539092.1	+	5	899	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	NAT1_ENST00000541942.1_Nonsense_Mutation_p.Q70*|NAT1_ENST00000518029.1_Nonsense_Mutation_p.Q70*|NAT1_ENST00000545197.1_Nonsense_Mutation_p.Q132*|NAT1_ENST00000517492.1_Nonsense_Mutation_p.Q70*|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Nonsense_Mutation_p.Q70*|NAT1_ENST00000520546.1_Nonsense_Mutation_p.Q70*|NAT1_ENST00000535084.1_Nonsense_Mutation_p.Q70*	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	70					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.Q70*(1)|p.Q132*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATGGTGTCTCCAGGTCAATCA	0.463000													7	82					0	0	0.248553	0	0
ZNF317	57693	broad.mit.edu	37	19	9271256	9271256	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr19:9271256G>T	ENST00000247956.6	+	7	1240	c.935G>T	c.(934-936)gGg>gTg	p.G312V	ZNF317_ENST00000360385.3_Missense_Mutation_p.G280V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G312V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GATCAGTGCGGGAAGGCTTAC	0.577000													9	52					1.12685e-05	1.67429e-05	0.307466	1	0
CPS1	1373	broad.mit.edu	37	2	211532908	211532908	+	Splice_Site	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:211532908A>G	ENST00000233072.5	+	34	4198		c.e34-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.?(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		atttCTAAACAGGTGGCTTGC	0.373000													7	36					0	0	0.278610	0	0
MRE11A	4361	broad.mit.edu	37	11	94219247	94219247	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:94219247C>A	ENST00000323929.3	-	4	379	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000323977.3_Missense_Mutation_p.D53Y|MRE11A_ENST00000540013.1_Missense_Mutation_p.D53Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.D53Y|MRE11A_ENST00000407439.3_Missense_Mutation_p.D56Y	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	53					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	p.D53Y(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AAAATAAAATCCACCTGATCA	0.299000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				4	41					2.56e-06	4.0477e-06	0.150653	1	0
VWA3A	146177	broad.mit.edu	37	16	22155616	22155616	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:22155616T>A	ENST00000389398.5	+	26	2737	c.2641T>A	c.(2641-2643)Tgc>Agc	p.C881S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	881						extracellular region		p.C881S(1)|p.C77S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GATTTCCAGATGCATGGGTCC	0.438000													3	14					0	0	0.115264	0	0
XIRP2	129446	broad.mit.edu	37	2	168107435	168107435	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:168107435G>T	ENST00000409195.1	+	9	9622	c.9533G>T	c.(9532-9534)cGc>cTc	p.R3178L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2956L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3178L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3003					actin cytoskeleton organization	cell junction	actin binding	p.R3178L(1)		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						CCCAGGAGTCGCTCTGAACAA	0.493000													15	49					7.93312e-07	1.30865e-06	0.457914	1	0
CNGA2	1260	broad.mit.edu	37	X	150907049	150907049	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:150907049C>A	ENST00000329903.4	+	1	127	c.94C>A	c.(94-96)Cac>Aac	p.H32N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	32					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.H32N(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGATGACCACAGGACAAG	0.498000													9	61					0.0581538	0.0616872	0.335167	1	0
MYOC	4653	broad.mit.edu	37	1	171607754	171607754	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:171607754C>T	ENST00000037502.5	-	2	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	238					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.S238N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCCTCTCCACTCCTGAGATA	0.473000													10	94					0	0	0.361761	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6426509	6426509	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:6426509G>A	ENST00000449001.2	+	7	1195	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R266Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R266Q|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R266Q	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	266	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R266Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TACTGCCTCCGAGTGAAGCAG	0.597000													9	56					0	0	0.361761	0	0
TTC12	54970	broad.mit.edu	37	11	113234572	113234572	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:113234572G>T	ENST00000393020.1	+	20	2144	c.1739G>T	c.(1738-1740)cGt>cTt	p.R580L	TTC12_ENST00000314756.3_Missense_Mutation_p.R580L|TTC12_ENST00000483239.2_Missense_Mutation_p.R586L|TTC12_ENST00000529221.1_Missense_Mutation_p.R580L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	580							binding	p.R580L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACTGCATCACGTTATGCTATA	0.368000													5	34					0.0215528	0.0232149	0.217242	1	0
OR5T3	390154	broad.mit.edu	37	11	56019785	56019785	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:56019785C>A	ENST00000303059.3	+	1	110	c.110C>A	c.(109-111)aCt>aAt	p.T37N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T37N(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGAACAAGACTGAAGTCACC	0.348000													3	64					0.00909568	0.0101901	0.150653	1	0
CCKAR	886	broad.mit.edu	37	4	26483502	26483502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:26483502C>A	ENST00000295589.3	-	5	1239	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.G349*(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATGGGGGTTCCTGAGAGGCGG	0.597000													16	64					4.7546e-09	8.85413e-09	0.500413	1	0
ANO10	55129	broad.mit.edu	37	3	43474216	43474216	+	Missense_Mutation	SNP	C	C	A	rs144728237		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:43474216C>A	ENST00000292246.3	-	12	1971	c.1801G>T	c.(1801-1803)Gca>Tca	p.A601S	ANO10_ENST00000451430.2_Missense_Mutation_p.A490S|ANO10_ENST00000350459.4_Missense_Mutation_p.A411S|ANO10_ENST00000396091.3_Missense_Mutation_p.A535S|ANO10_ENST00000414522.2_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	601					cell death	chloride channel complex	chloride channel activity	p.A601S(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GCCAGGAGTGCGTGCTGAAAA	0.368000													6	23					2.0095e-06	3.22598e-06	0.248553	1	0
ZNF716	441234	broad.mit.edu	37	7	57528508	57528508	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:57528508G>A	ENST00000420713.1	+	4	453	c.341G>A	c.(340-342)aGa>aAa	p.R114K		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.R114K(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATACTGAGAAGATATGGAAAA	0.363000													10	33					0	0	0.335167	0	0
DAB1	1600	broad.mit.edu	37	1	57476938	57476938	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:57476938G>T	ENST00000371236.2	-	13	1715	c.1452C>A	c.(1450-1452)acC>acA	p.T484T	DAB1_ENST00000439789.2_Silent_p.T398T|DAB1_ENST00000371231.1_Silent_p.T517T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.T484T|DAB1_ENST00000414851.2_Silent_p.T466T|DAB1_ENST00000420954.2_Silent_p.T482T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	517					cell differentiation|nervous system development			p.T484T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TAGGGGCTGGGGTTGGAGCTA	0.473000													5	51					0.0293803	0.0313241	0.248553	1	0
ZNF518B	85460	broad.mit.edu	37	4	10447452	10447452	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:10447452G>A	ENST00000326756.3	-	3	939	c.501C>T	c.(499-501)tgC>tgT	p.C167C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C167C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAATGTAGCTGCAGTGAGAAC	0.393000													14	90					0	0	0.457914	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984232	41984232	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:41984232C>A	ENST00000333141.5	+	1	520	c.423C>A	c.(421-423)caC>caA	p.H141Q		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	141								p.H141Q(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGGACTCTCACGTTCTGCTGT	0.557000													10	84					4.68919e-08	8.29017e-08	0.361761	1	0
FAM83G	644815	broad.mit.edu	37	17	18881050	18881050	+	Silent	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:18881050T>A	ENST00000388995.6	-	5	2152	c.1929A>T	c.(1927-1929)ccA>ccT	p.P643P	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.P643P|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.P643P			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	643								p.P643P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCGCGGTGGTGGGGTTGGCC	0.637000													6	28					0	0	0.248553	0	0
CACNA1F	778	broad.mit.edu	37	X	49070669	49070669	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:49070669C>A	ENST00000376265.2	-	30	3752	c.3691G>T	c.(3691-3693)Ggc>Tgc	p.G1231C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1166C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1220C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1231					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G1231C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGAAGAGGCCAGTGAAGACC	0.527000													10	58					3.86212e-05	5.37617e-05	0.361761	1	0
PTPRD	5789	broad.mit.edu	37	9	8521456	8521456	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:8521456C>A	ENST00000381196.4	-	17	1325	c.782G>T	c.(781-783)gGg>gTg	p.G261V	PTPRD_ENST00000356435.5_Missense_Mutation_p.G261V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G248V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G261V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G251V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G258V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G251V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G261V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G248V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G258V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G261V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	261	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G261V(4)		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)		CATTGGTGACCCCACGGCCAC	0.468000										TSP Lung(15;0.13)			12	44					1.61879e-10	3.15476e-10	0.411799	1	0
SATB2	23314	broad.mit.edu	37	2	200298174	200298174	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:200298174C>G	ENST00000417098.1	-	3	1049	c.233G>C	c.(232-234)aGa>aCa	p.R78T	SATB2_ENST00000428695.1_Missense_Mutation_p.R78T|SATB2_ENST00000457245.1_Missense_Mutation_p.R78T|SATB2_ENST00000260926.5_Missense_Mutation_p.R78T|SATB2_ENST00000443023.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	78						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.R78T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGTTCTTCTCTGTTGTCATA	0.493000													8	56					0	0	0.307466	0	0
KDM4C	23081	broad.mit.edu	37	9	7046895	7046895	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:7046895C>T	ENST00000381309.3	+	16	2858	c.2293C>T	c.(2293-2295)Ctt>Ttt	p.L765F	KDM4C_ENST00000442236.2_Missense_Mutation_p.L510F|KDM4C_ENST00000381306.3_Missense_Mutation_p.L765F|KDM4C_ENST00000543771.1_Missense_Mutation_p.L765F|KDM4C_ENST00000536108.1_Missense_Mutation_p.L584F|KDM4C_ENST00000428870.2_Missense_Mutation_p.L452F|KDM4C_ENST00000535193.1_Missense_Mutation_p.L787F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	765					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.L765F(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGGAGGTGCTCTTAAGCAAAC	0.363000													8	53					0	0	0.335167	0	0
SCN5A	6331	broad.mit.edu	37	3	38651363	38651363	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:38651363G>A	ENST00000413689.1	-	7	989	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F	SCN5A_ENST00000455624.2_Missense_Mutation_p.L266F|SCN5A_ENST00000425664.1_Missense_Mutation_p.L266F|SCN5A_ENST00000443581.1_Missense_Mutation_p.L266F|SCN5A_ENST00000450102.2_Missense_Mutation_p.L266F|SCN5A_ENST00000333535.4_Missense_Mutation_p.L266F|SCN5A_ENST00000449557.2_Missense_Mutation_p.L266F|SCN5A_ENST00000423572.2_Missense_Mutation_p.L266F|SCN5A_ENST00000414099.2_Missense_Mutation_p.L266F|SCN5A_ENST00000451551.2_Missense_Mutation_p.L266F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	266					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	p.L266F(2)		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)	AGGCCGATGAGGGCAAAGACG	0.602000													13	47					0	0	0.435327	0	0
FSCB	84075	broad.mit.edu	37	14	44975848	44975848	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:44975848C>T	ENST00000340446.4	-	1	634	c.343G>A	c.(343-345)Gta>Ata	p.V115I		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	115						cilium		p.V115I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAATTTCTACATCCTGAACA	0.433000													21	204					0	0	0.624587	0	0
OLFM3	118427	broad.mit.edu	37	1	102290750	102290750	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:102290750G>T	ENST00000370103.4	-	4	637	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	OLFM3_ENST00000359814.3_Missense_Mutation_p.Q162K|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.Q67K|OLFM3_ENST00000338858.5_Missense_Mutation_p.Q162K	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	162						extracellular region		p.Q162K(1)|p.Q142K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTTTTGTACTGTTCCAGCACG	0.438000													7	32					0.00198382	0.00240237	0.248553	1	0
FASTKD1	79675	broad.mit.edu	37	2	170401296	170401296	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:170401296T>A	ENST00000453153.2	-	9	2097	c.1751A>T	c.(1750-1752)aAc>aTc	p.N584I	FASTKD1_ENST00000453929.2_Missense_Mutation_p.N584I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	584					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.N584I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGGATCATAGTTCAATACGCT	0.318000													6	15					0	0	0.278610	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121676698	121676698	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:121676698G>T	ENST00000393386.2	+	18	5740	c.5329G>T	c.(5329-5331)Ggc>Tgc	p.G1777C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G910C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1777	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G1777C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAAAAGGATGGCAAACTGAC	0.303000													3	53					0.00024832	0.000331357	0.150653	1	0
GPC5	2262	broad.mit.edu	37	13	92560248	92560248	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr13:92560248C>T	ENST00000377067.3	+	6	1710	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	446						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.V446V(1)		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)				ATCCTGAAGTCAAAGTCAAAG	0.373000													11	46					0	0	0.387290	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167645	27167645	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:27167645G>T	ENST00000288699.6	+	12	1720	c.1562G>T	c.(1561-1563)cGg>cTg	p.R521L	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R521L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	521					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R521L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGTCACCCGGCATGGGGGC	0.632000													11	55					4.3838e-07	7.43649e-07	0.435327	1	0
FIG4	9896	broad.mit.edu	37	6	110059538	110059538	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:110059538G>T	ENST00000230124.3	+	7	781	c.657G>T	c.(655-657)ggG>ggT	p.G219G	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	219	SAC.				cell death	endosome membrane	protein binding	p.G219G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GGGTATTTGGGATCTGTAGTG	0.303000													13	94					0.000219431	0.000294685	0.457914	1	0
KCNH8	131096	broad.mit.edu	37	3	19498290	19498290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:19498290C>A	ENST00000328405.2	+	11	2122	c.1856C>A	c.(1855-1857)tCa>tAa	p.S619*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	619						integral to membrane	two-component sensor activity	p.S619*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAATCTATCAATTAAGGAC	0.378000													6	52					2.7689e-08	4.93688e-08	0.248553	1	0
ARID5B	84159	broad.mit.edu	37	10	63850816	63850816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:63850816G>T	ENST00000279873.7	+	10	2004	c.1594G>T	c.(1594-1596)Gag>Tag	p.E532*	ARID5B_ENST00000309334.5_Nonsense_Mutation_p.E289*	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	532					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.E532*(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGTGGCAGAGGAGGCGGGAGA	0.572000													6	46					0.00307968	0.00365548	0.278610	1	0
KRT71	112802	broad.mit.edu	37	12	52943961	52943961	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:52943961G>T	ENST00000267119.5	-	2	577	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	170	Linker 1.|Rod.						structural molecule activity	p.L170M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CAGTTGTTCAGGTCCAGCTGC	0.592000													7	135					0.00307968	0.00365548	0.278610	1	0
PTPN5	84867	broad.mit.edu	37	11	18751016	18751016	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:18751016G>T	ENST00000396170.1	-	14	2756	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	PTPN5_ENST00000396168.1_Missense_Mutation_p.Q506K|PTPN5_ENST00000477854.1_Missense_Mutation_p.Q334K|PTPN5_ENST00000358540.2_Missense_Mutation_p.Q530K|PTPN5_ENST00000396166.3_Missense_Mutation_p.Q136K|PTPN5_ENST00000396167.2_Missense_Mutation_p.Q498K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.Q530K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	530	Substrate binding.|Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.Q530K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGACGGAGCTGGCACGTGGTC	0.652000													5	15					0.014758	0.0161031	0.184627	1	0
RP1	6101	broad.mit.edu	37	8	55542602	55542602	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr8:55542602C>A	ENST00000220676.1	+	4	6308	c.6160C>A	c.(6160-6162)Ctc>Atc	p.L2054I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2054					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.L2054I(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)			TACACAAGACCTCAGCGGTCA	0.343000													6	47					0.00116845	0.00146143	0.217242	1	0
MYH2	4620	broad.mit.edu	37	17	10432387	10432387	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:10432387C>G	ENST00000245503.5	-	27	3748	c.3364G>C	c.(3364-3366)Gag>Cag	p.E1122Q	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1122Q|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1122					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1122Q(1)		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						TCCAGCTCCTCAATGCGGGCC	0.547000													14	38					0	0	0.457914	0	0
CCDC150	284992	broad.mit.edu	37	2	197583345	197583345	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:197583345A>G	ENST00000389175.4	+	18	2120	c.1985A>G	c.(1984-1986)gAa>gGa	p.E662G	CCDC150_ENST00000409270.1_Missense_Mutation_p.E149G|CCDC150_ENST00000272831.7_Missense_Mutation_p.E309G	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	662								p.E662G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGGACAGGGAAAACAAGAAG	0.473000													8	23					0	0	0.307466	0	0
ACE2	59272	broad.mit.edu	37	X	15591573	15591573	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:15591573C>A	ENST00000427411.1	-	12	1674	c.1458G>T	c.(1456-1458)ggG>ggT	p.G486G	ACE2_ENST00000252519.3_Silent_p.G486G	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	486					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.G486G(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GTTCCACCACCCCAACTATCT	0.438000													6	59					3.59834e-05	5.09359e-05	0.217242	1	0
GPR61	83873	broad.mit.edu	37	1	110086058	110086058	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:110086058G>T	ENST00000527748.1	+	2	1097	c.414G>T	c.(412-414)gtG>gtT	p.V138V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	138						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V138V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCATCAATGTGGAGCGCTACT	0.607000													7	76					0.000274275	0.000362528	0.307466	1	0
TRIM24	8805	broad.mit.edu	37	7	138200011	138200011	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:138200011G>T	ENST00000343526.4	+	3	753	c.538G>T	c.(538-540)Gtt>Ttt	p.V180F	TRIM24_ENST00000415680.2_Missense_Mutation_p.V180F|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	180					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.V180F(2)|p.V138F(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGTAGAGTGTGTTGAATGGCT	0.423000													12	57					0.105934	0.112087	0.435327	1	0
ACO1	48	broad.mit.edu	37	9	32407428	32407428	+	Splice_Site	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:32407428G>T	ENST00000379923.1	+	4	472		c.e4+1		ACO1_ENST00000541043.1_Splice_Site|ACO1_ENST00000309951.5_Splice_Site	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	p.?(3)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGGACTTTACGTGAGCCTAAT	0.388000													5	48					0.00116845	0.00146143	0.217242	1	0
CTRC	11330	broad.mit.edu	37	1	15771101	15771101	+	Splice_Site	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:15771101C>G	ENST00000375949.4	+	6	520	c.493_splice	c.e6-1	p.T165_splice	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	165	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.T165S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCCCCAGCCAACGGCCCC	0.652000													7	26					0	0	0.248553	0	0
DIRC2	84925	broad.mit.edu	37	3	122545760	122545760	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:122545760C>A	ENST00000261038.5	+	3	949	c.551C>A	c.(550-552)gCt>gAt	p.A184D		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	184					transport	integral to membrane		p.A184D(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ACAGCCACAGCTATTGCATCA	0.473000													8	86					5.18039e-06	7.95086e-06	0.278610	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899961	156899961	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:156899961A>G	ENST00000311946.7	+	6	1510	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.H446R	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	465						integral to membrane	receptor activity	p.H403R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TTTATAATCCATTCCTGAAGC	0.438000													3	30					0	0	0.184627	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653456	121653456	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:121653456G>A	ENST00000393386.2	+	12	4767	c.4356G>A	c.(4354-4356)caG>caA	p.Q1452Q	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1452					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.Q1452Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAGAATCACAGGAAAAGGTAA	0.373000													4	45					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7578224	7578224	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:7578224T>A	ENST00000420246.2	-	6	757	c.625A>T	c.(625-627)Aga>Tga	p.R209*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R209*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R209*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R209*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R209*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R209*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(27)|p.R209*(18)|p.0?(8)|p.?(5)|p.R77*(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R116*(2)|p.D208fs*1(1)|p.D208fs*38(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.R209R(1)|p.D207_V216del10(1)|p.R116fs*6(1)|p.R209fs*5(1)|p.R209fs*36(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*7(1)|p.R77fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAAGTGTTTCTGTCATCCAAA	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	29					0	0	0.307466	0	0
CADPS	8618	broad.mit.edu	37	3	62388860	62388860	+	Splice_Site	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:62388860G>T	ENST00000383710.4	-	29	4127	c.3777_splice	c.e29-1	p.Q1260_splice	CADPS_ENST00000283269.9_Splice_Site_p.Q1221_splice|CADPS_ENST00000357948.3_Splice_Site_p.Q1181_splice	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1260	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.Q1260K(1)|p.Q1221K(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGTACCATTGCTGAAAAAAG	0.448000													3	27					0.115264	0.120438	0.115264	1	0
CLEC4F	165530	broad.mit.edu	37	2	71046533	71046533	+	Silent	SNP	T	T	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:71046533T>G	ENST00000272367.2	-	3	298	c.222A>C	c.(220-222)gtA>gtC	p.V74V	CLEC4F_ENST00000426626.1_Silent_p.V74V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	74					endocytosis	integral to membrane	receptor activity|sugar binding	p.V74V(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTCCCAGAATTACGGCTTGCA	0.527000													8	26					0	0	0.335167	0	0
MUSK	4593	broad.mit.edu	37	9	113459690	113459690	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr9:113459690T>C	ENST00000416899.2	+	5	698	c.572T>C	c.(571-573)gTg>gCg	p.V191A	MUSK_ENST00000374440.3_Missense_Mutation_p.V73A|MUSK_ENST00000189978.5_Missense_Mutation_p.V191A|MUSK_ENST00000374439.1_Missense_Mutation_p.V73A|MUSK_ENST00000374448.4_Missense_Mutation_p.V191A			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	191	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V191A(1)		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						TATCGATGTGTGGCAAAAAAC	0.488000													6	74					0	0	0.278610	0	0
SPINT1	6692	broad.mit.edu	37	15	41149044	41149044	+	Silent	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr15:41149044C>T	ENST00000344051.4	+	11	1695	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SPINT1_ENST00000431806.1_Silent_p.F471F|SPINT1_ENST00000562057.1_Silent_p.F471F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	487						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	p.F487F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GTTACTGCTTCTTCAAGAACC	0.572000													19	101					0	0	0.575678	0	0
FH	2271	broad.mit.edu	37	1	241665847	241665847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:241665847C>A	ENST00000366560.3	-	8	1170	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	378					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	p.E378*(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTCATTGCTTCACACTGAGTA	0.408000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				7	55					2.7689e-08	4.93688e-08	0.248553	1	0
REG1B	5968	broad.mit.edu	37	2	79312396	79312396	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:79312396C>A	ENST00000305089.3	-	6	527	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	149	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.W149C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ATTCATCCTTCCATTTCTTGA	0.403000													3	21					6.4e-05	8.85212e-05	0.115264	1	0
HTR1B	3351	broad.mit.edu	37	6	78172323	78172323	+	Silent	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr6:78172323C>A	ENST00000369947.2	-	1	1167	c.798G>T	c.(796-798)tcG>tcT	p.S266S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	266					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.S266S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TAGAGGTGACCGAGGACGTGG	0.607000													12	86					5.50884e-06	8.39346e-06	0.411799	1	0
CD1B	910	broad.mit.edu	37	1	158299789	158299789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:158299789C>A	ENST00000368168.3	-	3	567	c.460G>T	c.(460-462)Gaa>Taa	p.E154*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	154					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.E154*(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTGCCACCTTCTGGGGAAGGC	0.473000													19	148					5.03518e-11	1.00464e-10	0.557998	1	0
CCDC93	54520	broad.mit.edu	37	2	118716003	118716003	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr2:118716003G>A	ENST00000376300.2	-	12	1080	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.H314Y	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	315			H -> R (in a colorectal cancer sample; somatic mutation).					p.H315Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCCGGCGATGTAGCTGGGAG	0.403000													9	40					0	0	0.307466	0	0
LSAMP	4045	broad.mit.edu	37	3	115805271	115805271	+	Silent	SNP	G	G	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr3:115805271G>A	ENST00000490035.1	-	2	787	c.288C>T	c.(286-288)ctC>ctT	p.L96L	LSAMP_ENST00000539563.1_Silent_p.L93L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	96	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L96L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCTGGATTCGGAGGCTGTATT	0.502000													3	35					0	0	0.150653	0	0
TTYH2	94015	broad.mit.edu	37	17	72233552	72233552	+	Silent	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:72233552G>T	ENST00000269346.4	+	4	608	c.534G>T	c.(532-534)gcG>gcT	p.A178A	TTYH2_ENST00000529107.1_Silent_p.A157A	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	178						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.A178A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						AGCAGATGGCGGGCAGCGTTG	0.582000													9	47					3.09899e-07	5.32162e-07	0.307466	1	0
CDH10	1008	broad.mit.edu	37	5	24535845	24535845	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:24535845C>A	ENST00000264463.4	-	4	1120	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G205W(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGGGCTGCCCTTGAAGTATG	0.438000										HNSCC(23;0.051)			8	53					5.18039e-06	7.95086e-06	0.278610	1	0
SMCHD1	23347	broad.mit.edu	37	18	2775813	2775813	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr18:2775813G>T	ENST00000320876.6	+	42	5595	c.5257G>T	c.(5257-5259)Gtc>Ttc	p.V1753F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1753F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1753					chromosome organization		ATP binding	p.V1753F(2)|p.V1201F(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGACTGTGTAGTCACCCTAAC	0.438000													6	25					8.12818e-05	0.000110935	0.248553	1	0
RSPRY1	89970	broad.mit.edu	37	16	57255297	57255297	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:57255297G>T	ENST00000537866.1	+	10	2004	c.1131G>T	c.(1129-1131)tgG>tgT	p.W377C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.W377C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	377	B30.2/SPRY.					extracellular region	zinc ion binding	p.W377C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGATTGGCTGGGCCACTCGAG	0.502000													12	97					2.68362e-12	5.5391e-12	0.411799	1	0
CDH10	1008	broad.mit.edu	37	5	24488134	24488134	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:24488134C>A	ENST00000264463.4	-	12	2512	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A669S(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATATCAAAGGCCTGGGTGTCC	0.463000										HNSCC(23;0.051)			5	111					0.014758	0.0161031	0.184627	1	0
EPYC	1833	broad.mit.edu	37	12	91371881	91371881	+	Silent	SNP	C	C	G			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:91371881C>G	ENST00000261172.3	-	3	416	c.324G>C	c.(322-324)ggG>ggC	p.G108G		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	108	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.G108G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TTGTGTGTGGCCCCAGAACCC	0.507000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	216144087	216144087	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:216144087A>T	ENST00000366943.2	-	36	7223	c.6837T>A	c.(6835-6837)gaT>gaA	p.D2279E	USH2A_ENST00000307340.3_Missense_Mutation_p.D2279E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2279	Fibronectin type-III 9.				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.D2279E(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)		TTAATATACCATCTAGATATA	0.398000										HNSCC(13;0.011)			12	74					0	0	0.411799	0	0
OR5D18	219438	broad.mit.edu	37	11	55587405	55587405	+	Silent	SNP	A	A	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:55587405A>T	ENST00000333976.4	+	1	320	c.300A>T	c.(298-300)gtA>gtT	p.V100V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V100V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GATGCGTAGTACAATTCTTTT	0.423000													9	184					0	0	0.307466	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719979	140719979	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140719979A>C	ENST00000394576.2	+	1	1441	c.1441A>C	c.(1441-1443)Agc>Cgc	p.S481R	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.S481R(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCCGACAGCAACGACAA	0.542000													7	56					0	0	0.248553	0	0
MACROD2	140733	broad.mit.edu	37	20	15967720	15967720	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr20:15967720C>T	ENST00000217246.4	+	15	1465	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	MACROD2_ENST00000310348.4_Missense_Mutation_p.S357L|MACROD2_ENST00000402914.1_Missense_Mutation_p.S122L|MACROD2_ENST00000407045.3_Missense_Mutation_p.S8L|MACROD2_ENST00000378058.3_Missense_Mutation_p.S122L	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	357	Glu-rich.							p.S122L(1)|p.S357L(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAACTTTCATCAAACCAAGAA	0.383000													9	64					0	0	0.307466	0	0
SPTA1	6708	broad.mit.edu	37	1	158615143	158615143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr1:158615143delG	ENST00000368148.3	-	29	4209	c.4029delC	c.(4027-4029)ccfs	p.P1343fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.P1343fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1343					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)					CCTGGAAGGTGGGAGCCTCTG	0.478													13	59	---	---	---	---					
CCKAR	886	broad.mit.edu	37	4	26483494	26483494	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:26483494delG	ENST00000295589.3	-	5	1247	c.1053delC	c.(1051-1053)ccfs	p.P351fs		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	351					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGAAGGAAATGGGGGTTCCTG	0.607													15	76	---	---	---	---					
PRSS12	8492	broad.mit.edu	37	4	119203272	119203273	+	Frame_Shift_Ins	INS	-	-	TGTG			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr4:119203272_119203273insTGTG	ENST00000296498.3	-	13	2728_2729	c.2446_2447insCACA	c.(2446-2448)acgfs	p.T816fs		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	816	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						GTCCACGCGTTTGTGTTCATGG	0.540													9	94	---	---	---	---					
PCDHB16	57717	broad.mit.edu	37	5	140564381	140564381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr5:140564381delC	ENST00000361016.2	+	1	3402	c.2247delC	c.(2245-2247)tafs	p.Y749fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		749					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGCTACCAATACGAGG	0.592													13	107	---	---	---	---					
GUSB	2990	broad.mit.edu	37	7	65435274	65435275	+	Frame_Shift_Del	DEL	TG	TG	-	rs143084006		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr7:65435274_65435275delTG	ENST00000304895.4	-	9	1600_1601	c.1470_1471delCA	c.(1468-1473)gaagfs	p.DK490fs	GUSB_ENST00000345660.6_Frame_Shift_Del_p.DK439fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.DK344fs	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	490					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCACCCCCTTGTCTGCTGCAT	0.579													9	61	---	---	---	---					
PRPF18	8559	broad.mit.edu	37	10	13652108	13652108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr10:13652108delG	ENST00000378572.3	+	5	593	c.433delG	c.(433-435)gtfs	p.G145fs		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	145					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AATCGTCGGCGGTCAGGAGCC	0.438													9	83	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407165	89407165	+	RNA	DEL	T	T	-	rs112016970		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							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						CATCAATGACTTTTTTTTTTT	0.303													7	18	---	---	---	---					
RP11-443N24.2	0	broad.mit.edu	37	12	25956649	25956650	+	RNA	INS	-	-	C			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:25956649_25956650insC	ENST00000536949.1	-	0	91																											ATTGGCATAAACCCGGGTCTAA	0.441													8	236	---	---	---	---					
APAF1	317	broad.mit.edu	37	12	99061359	99061359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr12:99061359delG	ENST00000357310.1	+	10	2008	c.1431delG	c.(1429-1431)cafs	p.Q477fs	APAF1_ENST00000551964.1_Frame_Shift_Del_p.Q477fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.Q477fs|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Frame_Shift_Del_p.Q477fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.Q466fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.Q477fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Frame_Shift_Del_p.Q466fs	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	477					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.Q477H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACCAGATCAGGAAGACTGTA	0.408													23	94	---	---	---	---					
LINC00639	283547	broad.mit.edu	37	14	39387541	39387544	+	RNA	DEL	AGGA	AGGA	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr14:39387541_39387544delAGGA	ENST00000553932.1	-	0	96																											gaggaaaaggaggaaggaaggaag	0.358													3	6	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													2	4	---	---	---	---					
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166		TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgfs	p.CPGP367fs		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657													3	4	---	---	---	---					
HDX	139324	broad.mit.edu	37	X	83723895	83723895	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:83723895delC	ENST00000297977.5	-	3	947	c.836delG	c.(835-837)gafs	p.G280fs	HDX_ENST00000373177.2_Frame_Shift_Del_p.G280fs|HDX_ENST00000506585.2_Frame_Shift_Del_p.G222fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	280						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGCATTTCCTCCCAGAATTCT	0.453													10	126	---	---	---	---					
SLITRK4	139065	broad.mit.edu	37	X	142718256	142718256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5045-01A-01D-1625-08	TCGA-50-5045-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0d734ad-1222-4bc0-b02b-1d2262b8ac35	f2944e7d-f761-45af-b625-1100fdc393d1	g.chrX:142718256delG	ENST00000381779.4	-	2	894	c.669delC	c.(667-669)ccfs	p.P223fs	SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.P223fs|SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.P223fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	223	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTTTTAAGGGCAATAAAT	0.423													15	97	---	---	---	---					
